Science.gov

Sample records for adenomatoid malformation ccam

  1. Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review

    PubMed Central

    Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

    2012-01-01

    Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities. PMID:22905308

  2. Pyopneumothorax with Stocker type III congenital cystic adenomatoid malformation in a 5-month-old infant

    PubMed Central

    Chilkar, Sujeet M; Leelakumar, Venkat; Ranjani, Chakravarthy P; Musthyala, Bharati; Narayana, Kotte VS

    2016-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare, developmental, hamartomatous abnormality of the lung characterized by a cessation of normal bronchiolar maturation, resulting in cystic overgrowth of the terminal bronchioles. We report one such case of CCAM in a 5-month-old female infant who was in perfect health until she suffered from spontaneous pyopneumothorax with type III CCAM of the lung and recovered after lobectomy. PMID:27051113

  3. FGF10 Signaling differences between type I pleuropulmonary blastoma and congenital cystic adenomatoid malformation

    PubMed Central

    2013-01-01

    Background Type I pleuropulmonary blastoma (PPB) and congenital cystic adenomatoid malformation of the lung (CCAM) are cystic lung diseases of childhood. Their clinical and radiological presentations are often similar, and pathologic discrimination remains difficult in many cases. As a consequence, type I PPB and CCAM are frequently confused, leading to delayed adequate management for type I PPB. Recent studies have suggested a role for fibroblast growth factor (FGF) 10 signal pathway in CCAM pathogenesis. The objective of our study was to determine whether FGF10 signaling differs between CCAM and type I PPB. Methods Immunohistochemical studies were performed for expression of FGF10, its receptor FGFR2b, and its inhibitor sonic hedgehog (SHH) in focal type I PPB (n=6), CCAM type I (n=7), CCAM type II (n=7), and control lungs (n=5). Results FGF10, FGFR2b, and SHH expressions differed markedly between type I PPB and both types of CCAM. Type I and type II CCAM cystic walls expressed FGF10, FGFR2b, and SHH, whereas staining was absent or poor in type I PBB cystic walls. Expression of FGF10, FGFR2b, and SHH did not differ between CCAM cystic walls and control airway walls. Conclusions These findings show that immunohistochemistry with FGF10, FGFR2b, or SHH could be useful in differentiating CCAM from type I PPB, when a child presents with a focal cystic lung lesion. The absence of strong expression of FGF10, FGFR2b, and/or SHH makes the diagnosis of CCAM very doubtful. PMID:24004862

  4. Congenital cystic adenomatoid malformation in the fetus: natural history and predictors of outcome.

    PubMed

    Miller, J A; Corteville, J E; Langer, J C

    1996-06-01

    Cystic adenomatoid malformation (CCAM) is a rare lesion that often is diagnosed by prenatal ultrasonography. Outcome varies from hydrops and fetal death to resolution before birth. The authors reviewed their 7-year experience with 17 fetuses diagnosed with CCAM by prenatal ultrasonography to determine the natural history of the lesion and to identify factors that might predict outcome. Of the 17 fetuses, five died during intrauterine life (3 terminations, 2 fetal deaths); four of them had hydrops. Twelve fetuses were carried to term. Only one had prenatal intervention: a thoracoamniotic shunt at 24 weeks. All 12 infants survived and underwent resection. Only four required neonatal support (1 extracorporeal membrane oxygenation, 2 ventilator, 1 oxygen). The initial CCAM:chest ratio, degree of mediastinal shift at time of diagnosis, location of CCAM, and age at time of diagnosis did not correlate with outcome. Sonographically predicted pathological type did not correlate with pathological diagnosis after surgery, or with outcome. The only accurate predictors of outcome were presence of hydrops (all died) and decrease in size of CCAM during gestation (all survived). The outcome for fetuses with CCAM may be better than previously recognized. Many of the lesions decrease in size, despite significant mediastinal shift and lung compression at the time of diagnosis. Fetal intervention should be considered only for fetuses with hydrops. Others should be monitored with serial ultrasonography. Parental counseling, especially regarding pregnancy termination, should reflect the positive outcome noted in most cases. PMID:8783108

  5. Fetal bronchoscopy as a useful procedure in a case with prenatal diagnosis of congenital microcystic adenomatoid malformation.

    PubMed

    Cruz-Martinez, Rogelio; Méndez, Antonio; Perez-Garcilita, Oscar; Monroy, Araceli; Aguilar-Vidales, Karla; Cruz-Martinez, Miriam Alejandra; Martinez-Morales, Cecilia

    2015-01-01

    Massive microcystic congenital cystic adenomatoid malformation (CCAM) and bronchial atresia are associated with a high perinatal mortality secondary to lung hypoplasia and cardiac dysfunction, and fetal intervention should be considered to improve prognosis. Therapeutic options include open fetal surgery with pulmonary resection, fetal sclerotherapy and fetoscopy. We present a case with a severely enlarged left lung without ultrasound signs of dilated airways compatible with the diagnosis of microcystic CCAM, hydrops and severe contralateral lung hypoplasia that was treated successfully at 30 weeks of gestation by fetal bronchoscopy, through which bronchial atresia was identified at the end of the left mainstem bronchi and permeabilized by laser ablation. After fetal surgery, weekly follow-up showed a progressive decrease in the affected lung size and an increase in the contralateral hypoplastic lung size, demonstrating normal dimensions of both lungs at 34 weeks of gestation, reversal of the mediastinal shift, and complete disappearance of hydrops. A healthy neonate was delivered uneventfully at term with no need for respiratory support, and the boy is now doing well at 15 months of age. This report demonstrates that in cases with prenatal diagnosis of large microcystic CCAM, fetal bronchoscopy can be used to refine the diagnosis of bronchial atresia and as a therapeutic tool with good outcome. PMID:25138479

  6. Fetal MRI as Complementary Study of Congenital Cystic Adenomatoid Malformation During Pregnancy: A Single Case Report

    PubMed Central

    Miranda-Paanakker, Alberto; Gomez-Leal, Paloma; Navarro-Sanchez, Patricia; Bueno-Crespo, Andres; Martinez-Cendan, Juan Pedro; Remezal-Solano, Manuel

    2016-01-01

    Fetal lung masses are rare findings in prenatal ultrasound scanning in general population, of which congenital cystic adenomatoid malformation is the most commonly diagnosed type. This paper reports a single case of congenital cystic adenomatoid malformation detected at our hospital and the subsequent clinical follow-up using ultrasound scanning and fetal magnetic resonance imaging. PMID:27186452

  7. Congenital Cystic Lesions of the Lung: Congenital Cystic Adenomatoid Malformation and Bronchopulmonary Sequestration

    PubMed Central

    Sfakianaki, Anna K; Copel, Joshua A

    2012-01-01

    Congenital cystic lesions of the lung in fetuses are rare. The most common malformations of the lower respiratory tract are congenital cystic adenomatoid malformation and bronchopulmonary sequestration. With the increased use of obstetric ultrasound, cystic lung lesions are detected more often antenatally, which allows for proper planning of peripartum and neonatal management. This article discusses a range of diagnostic and management options. PMID:22866187

  8. Life-Threatening Congenital Cystic Adenomatoid Malformation in the Premature Neonate

    PubMed Central

    Chong, Yooyoung; Rhee, Youn Ju; Han, Sung Joon; Cho, Hyun Jin; Kang, Shin Kwang; Kang, Min-Woong

    2016-01-01

    Congenital cystic adenomatoid malformation is a rare, but well-known disease. It can be managed conservatively in patients without symptoms or require surgical removal when symptomatic. The surgical option of choice is en bloc resection of the affected lesion. We report an experience of life-threatening congenital cystic adenoid malformation in a low-birth-weight (1,590 g) premature neonate who was successfully treated with a lobectomy of the lung. PMID:27298802

  9. Life-Threatening Congenital Cystic Adenomatoid Malformation in the Premature Neonate.

    PubMed

    Chong, Yooyoung; Rhee, Youn Ju; Han, Sung Joon; Cho, Hyun Jin; Kang, Shin Kwang; Kang, Min-Woong

    2016-06-01

    Congenital cystic adenomatoid malformation is a rare, but well-known disease. It can be managed conservatively in patients without symptoms or require surgical removal when symptomatic. The surgical option of choice is en bloc resection of the affected lesion. We report an experience of life-threatening congenital cystic adenoid malformation in a low-birth-weight (1,590 g) premature neonate who was successfully treated with a lobectomy of the lung. PMID:27298802

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

    PubMed Central

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha

    2016-01-01

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

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

    PubMed

    David, Jane Jackie; Mohanlal, Smilu; Sankhe, Punam; Ghildiyal, Radha

    2016-01-01

    We report a 2.5-year-old girl who presented with hoarseness of voice since 3 months of age and failure to thrive. Chest X-ray showed cardiomegaly with a deviation of the trachea and mediastinum to the right side. Two-dimensional echocardiography showed decreased flow across the right pulmonary artery, a small atrial septal defect (ASD) with a right-to-left shunt, and a dilated right atrium and right ventricle with severe tricuspid regurgitation suggestive of severe pulmonary hypertension. A silent large patent ductus arteriosus was also seen. Multiple detector computerized tomography aortogram confirmed the findings of absent right pulmonary artery and hypoplastic right lung with small cystic lesions suggestive of congenital cystic adenomatoid malformation in the right lower lobe. Hoarseness of voice was due to the left vocal cord palsy probably secondary to severe pulmonary hypertension (Ortner's syndrome). PMID:27625455

  12. Pulmonary vascular malformations.

    PubMed

    Liechty, Kenneth W; Flake, Alan W

    2008-02-01

    Pulmonary vascular malformations have historically been diagnosed in a wide range of age groups, but the extensive use of prenatal imaging studies has resulted in the majority of lesions being diagnosed in utero. Among this group of lesions, bronchopulmonary sequestrations (BPS), hybrid lesions with both congenital cystic adenomatoid malformation (CCAM) and BPS, aberrant systemic vascular anastomoses, and pulmonary arteriovenous malformations (PAVM), are the most common. The biologic behavior of these lesions and the subsequent therapy is, in large part, determined by the age of the patient at diagnosis. In the fetus, large BPS or hybrid lesions can result in fetal hydrops and in utero fetal demise. In the perinatal period, pulmonary hypoplasia from the mass effect or air trapping within the cystic component of hybrid lesions can result in life-threatening respiratory distress. In the postnatal period, communication of the lesion with the aero-digestive system can result in recurrent pneumonia. Alternatively, increased pulmonary blood flow from the systemic arterial supply can result in hemorrhage, hemoptysis, or high output cardiac failure. In addition, there have been several reports of malignant degeneration. Finally, the broad spectrum encompassed by these lesions makes classification and subsequent communication of the lesions confusing and difficult. This paper will review the components of these lesions, their associated anomalies, the diagnosis and natural history, and finally, current concepts in the management of pulmonary vascular malformations. PMID:18158137

  13. Unusual Adenomatoid Odontogenic Tumor.

    PubMed

    Oliveira, Marina Reis; Gabrielli, Marisa Aparecida Cabrini; Gabrielli, Mario Francisco Real; Andrade, Cleverton Roberto de; Silva, Breno Nogueira; Pereira-Filho, Valfrido Antonio

    2016-03-01

    The adenomatoid odontogenic tumor is a rare benign neoplasm. It can, however, have locally aggressive behavior. This is a case of an adenomatoid odontogenic tumor of unusual location and behavior in a 15-year-old female patient. A panoramic radiograph revealed a large radiolucent lesion involving the retained tooth 33. Teeth involved in this lesion were displaced and with apparent root resorption. A prototype of the mandible showed a marked expansion of cortical bone, fenestration points in the lingual cortex, and fragility of the base of the mandible. Therefore, because of the risk of postoperative pathologic fracture the placement of a 2.4-mm reconstruction plate was indicated. Total enucleation of the lesion, as well as placement of a reconstruction plate were performed. Despite the large bone destruction, with the correct surgical procedure and the use of the reconstruction plate the patient recovered without incidents and a 24-month postoperative radiography showed satisfactory bone formation. PMID:26963303

  14. Cystic Adenomatoid Odontogenic Tumor

    PubMed Central

    Grover, Sonal; Rahim, Ahmed Mujib Bangalore; Parakkat, Nithin Kavassery; Kapoor, Shekhar; Mittal, Kumud; Sharma, Bhushan; Shivappa, Anil Bangalore

    2015-01-01

    Adenomatoid Odontogenic Tumor (AOT) is a well-established benign epithelial lesion of odontogenic origin. Rightfully called “the master of disguise,” this lesion has been known for its varied clinical and histoarchitectural patterns. Not only does AOT predominantly present radiologically as a unilocular cystic lesion enclosing the unerupted tooth (which is commonly mistaken as a dentigerous cyst) but the lesion also presents rarely with a cystic component histopathologically. We present one such unusual case of cystic AOT associated with an impacted canine, mimicking a dentigerous cyst. The present case aims to highlight the difference between cystic AOT and dentigerous cyst radiographically. The exact histogenesis of AOT and its variants still remains obscure. An attempt has been made to hypothesize the new school of thought regarding the origin of AOT. PMID:26579317

  15. Adenomatoid hyperplasia of lower lip.

    PubMed

    Sharma, Gaganjot Kaur; Sharma, Manish; Vanaki, Srinivas S

    2011-10-01

    Adenomatoid hyperplasia (AH) is an uncommon, non-neoplastic swelling on the palate caused due to hyperplasia of the mucinous acini. The lesion clinically presents as a sessile tumor-like nodule resembling pleomorphic adenoma. Histopathologic findings include lobules of enlarged mucinous acini which are filled with secretory granules. The nuclei are squeezed to the basal portions, associated with focal inflammation and ductal dilatation, and a history of trauma is often elicited. Here, we report a rare case of AH of the lower lip in a 20-year-old male patient, which mimics a mucous retention cyst or mucocele. PMID:22135695

  16. Imaging of congenital pulmonary malformations.

    PubMed

    Praticò, Francesco Emanuele; Corrado, Michele; Della Casa, Giovanni; Parziale, Raffaele; Russo, Giuseppe; Gazzani, Silvia Eleonora; Rossi, Enrica; Borgia, Daniele; Mostardi, Maurizio; Bacchini, Emanuele; Cella, Simone; De Filippo, Massimo

    2016-01-01

    Congenital pulmonary malformations represent a broad spectrum of anomalies that may result in varied clinical and pathologic pictures, ranging from recurrent pulmonary infections and acute respiratory distress syndrome, which require timely drug therapy, up to large space-occupying lesions needing surgical treatment. This classification includes three distinct anatomical and pathological entities, represented by Congenital Cystic Adenomatoid Malformation, Bronchopulmonary Sequestration and Congenital Lobar Emphysema. The final result in terms of embryological and fetal development of these alterations is a Congenital Lung Hypoplasia. Since even Bronchial Atresia, Pulmonary Bronchogenic Cysts and Congenital Diaphragmatic Hernias are due to Pulmonary Hypoplasia, these diseases will be discussed in this review (1, 2). PMID:27467867

  17. Adenomatoid odontogenic tumor, an uncommon tumor

    PubMed Central

    Vasudevan, K.; Kumar, Senthil; Vijayasamundeeswari; Vigneswari, Srivel

    2012-01-01

    Here we report a case of adenomatoid odontogenic tumor (AOT) in the maxilla in a young girl aged 14 years and its surgical management. We also review the literature and variations in the nomenclature and classifications of this interesting tumor. The review of literature gives an interesting picture regarding terminologies in the past and dilemma in classifying this tumor. The introduction of the name adenomatoid odontogenic tumour has resulted in the simpler and fruitful surgical management like enucleation and curettage with no reports of recurrences. In the past, similar lesion with the terminology like adeno ameloblastoma has resulted in unnecessary mutilating surgery. The conflicting views whether the lesion is being neoplasm or an anomalous hamartomatous growth is also being discussed. PMID:22919236

  18. Technical documentation and user's guide for City-County Allocation Model (CCAM). Version 1. 0

    SciTech Connect

    Clark, L.T. Jr.; Scott, M.J.; Hammer, P.

    1986-05-01

    The City-County Allocation Model (CCAM) was developed as part of the Monitored Retrievable Storage (MRS) Program. The CCAM model was designed to allocate population changes forecasted by the MASTER model to specific local communities within commuting distance of the MRS facility. The CCAM model was designed to then forecast the potential changes in demand for key community services such as housing, police protection, and utilities for these communities. The CCAM model uses a flexible on-line data base on demand for community services that is based on a combination of local service levels and state and national service standards. The CCAM model can be used to quickly forecast the potential community service consequence of economic development for local communities anywhere in the country. The remainder of this document is organized as follows. The purpose of this manual is to assist the user in understanding and operating the City-County Allocation Model (CCAM). The annual explains the data sources for the model and code modifications as well as the operational procedures.

  19. Adenomatoid Tumor of the Testis Arising From the Tunica Albuginea

    PubMed Central

    Sun, Andrew Y; Polackwich, A. Scott; Sabanegh, Jr, Edmund S

    2016-01-01

    Adenomatoid tumors are the most common paratesticular tumor. Although they primarily arise from the epididymis, they can rarely occur as an isolated intratesticular mass. These tumors are benign and surgical excision is curative. We present a case of a 36-year-old man diagnosed with an intratesticular adenomatoid tumor. PMID:27162515

  20. A Huge Adenomatoid Odontogenic Tumor of Maxilla

    PubMed Central

    Shreedhar, Balasundari; Ali, Iqbal; Agarwal, Anshita; Alam, Sarwar

    2012-01-01

    The adenomatoid odontogenic tumor (AOT) is a benign, nonneoplastic (hamartomatous) lesion with a slow progressing growth. It occurs in both intraosseous and peripheral forms. This paper reports the case of a female aged 16 years who presented with a swelling in anterior maxilla; canine was missing, and a supernumerary tooth was present in the mid line. Radiology revealed a well-defined radiolucent area associated with impacted canine and root resorption of adjacent teeth, which was diagnosed histopathologically as AOT. The patient was treated surgically and later rehabilitated with fixed prosthesis. PMID:22481948

  1. An adenomatoid odontogenic tumor in disguise.

    PubMed

    Dhirawani, Rajesh B; Pathak, Sanyog; Mallikaarjuna, K; Sharma, Ankit

    2016-01-01

    Adenomatoid odontogenic tumor (AOT) is a slowly growing benign tumor of the oral cavity. It accounts of 3-7% of all odontogenic tumors. It is seen to occur commonly in the anterior maxilla. The tumor is usually associated with an impacted tooth with maxillary canine being the most common tooth. AOT is seen in a younger group, especially below 20 years with a female preponderance. AOT occurs in two main variants: Central or intraosseous which is more common and second is peripheral which is rare. Radiologically, it represents as a radiolucent lesion with radiopaque foci usually an impacted or a supernumerary tooth. With a close clinical and radiographic resemblance to dentigerous cyst correct diagnosis and treatment is necessary. AOT being benign in nature requires a conservative management with enucleation. This is a case report of a 13-year-old girl with an AOT occurring in the anterior maxillary region. PMID:27461816

  2. Dentigerous Cyst Associated with Adenomatoid Odontogenic Tumour

    PubMed Central

    Majumdar, Sumit; Uppala, Divya; Talasila, Sunil; Babu, Mahesh

    2015-01-01

    Adenomatoid odontogenic tumour (AOT), a tumour composed of odontogenic epithelium, is an uncommon tumour of odontogenic origin that accounts for only 2.2- 7.1% of all odontogenic tumours. Very few cases of AOT associated with Dentigerous cyst (DC) have been reported till date, most cases are in females and have a striking tendency to occur in the anterior maxilla. The present case is that of a 14-year-old female who revealed a large radiolucent lesion associated with the crown of an unerupted canine located in the left maxillary anterior region. The microscopic examination revealed the presence of AOT in the fibrous capsule of a DC. In this paper, we describe the importance of grossing, sectioning and complete examination of the slide to diagnose such hybrid lesions. PMID:26155575

  3. Bilateral congenital cystic adenomatiod malformation of the lungs: a case report.

    PubMed

    Atalabi, O M; Ogunseyinde, A O; Obajimi, M O; Falade, A G; Adebo, A O; Jite, I E

    2006-06-01

    A six weeks old infant presented with scalp ulcer and fever. and on examination was found to have resonant percussion notes bilaterally. The initial chest radiograph revealed multiple lucencies which were initially thought to be due to diaphragmatic hernia, but the dilemma was resolved by Computerised tomography which revealed the lucencies to be multiple cysts characteristics of Congenital Cystic Adenomatiod Malformation (CCAM) type II. PMID:17209318

  4. Regional-scale rainfall projections: Simulations for the New Guinea region using the CCAM model

    NASA Astrophysics Data System (ADS)

    Smith, Ian; Moise, Aurel; Katzfey, Jack; Nguyen, Kim; Colman, Rob

    2013-02-01

    A common problem with global climate models is the fact that their grids do not always resolve important topographic features which determine the spatial variability of rainfall at regional scales. Here we present and compare simulations of rainfall for the relatively mountainous New Guinea region from six relatively coarse resolution climate models and the corresponding results using a higher resolution model (the Conformal Cubic Atmospheric Model—CCAM). While the large-scale climatological mean rainfall from both the coarse models and CCAM tend to be similar, unsurprisingly, the CCAM results better reflect some of the important topographic effects. However, the results for projected changes (under the A2 emissions scenario) to rainfall for later this century reveal some important differences. The coarse-scale results indicate relatively smooth patterns of projected change consistent with the representations of the underlying topography, but over New Guinea, there is little agreement on the sign of the change. The CCAM projections show greater spatial detail and better agreement among the six members. These indicate that West Papua and the relatively wet northern and southern mountain slopes may get wetter during December to February—the peak of the Austral monsoon season, and the highland regions may actually become drier during June to August—the dry season. These results are consistent with the theoretical concept that warmer temperatures may lead to increases over already wet regions and decreases over the relatively drier regions—the so-called "rich-get-richer" mechanism. They also highlight the fact that the climate of mountainous regions can be relatively complex and indicate potential difficulties that can arise when attempting to synthesize regional-scale projections from coarse-scale models.

  5. CCAM: A novel millimeter-wave instrument using a close-packed TES bolometer array

    NASA Astrophysics Data System (ADS)

    Lau, Judy M.

    This thesis describes CCAM, an instrument designed to map the Cosmic Microwave Background (CMB), and also presents some of the initial measurements made with CCAM on the Atacama Cosmology Telescope (ACT). CCAM uses a CCD-like camera of millimeter-wave TES bolometers. It employs new detector technology, read-out electronics, cold re-imaging optics, and cryogenics to obtain high sensitivity CMB anisotropy measurements. The free-standing 8×32 close-packed array of pop- up TES detectors is the first of its kind to observe the sky at 145 GHz. We present the design of the receiver including the antireflection coated silicon lens re-imaging system, construction and optimization of the pulse tube/ sorption refrigerator cryogenic system, as well as the technology developed to integrate eight 1×32 TES columns and accompanying read-out electronics in to an array of 256 millimeter-wave detectors into a focal plane area of 3.5 cm 2. The performance of the detectors and optics prior to deployment at the ACT site in Chile are reported as well as preliminary performance results of the instrument when optically paired with the ACT telescope in the summer of 2007. Here, we also report on the feasibility of the TES detector array to measure polarization when coupled to a rotating birefringent sapphire half wave plate and wire-grid polarizer.

  6. First Evaluation of the CCAM Aerosol Simulation over Africa: Implications for Regional Climate Modeling

    NASA Astrophysics Data System (ADS)

    Horowitz, H.; Garland, R. M.; Thatcher, M. J.; Naidoo, M.; van der Merwe, J.; Landman, W.; Engelbrecht, F.

    2015-12-01

    An accurate representation of African aerosols in climate models is needed to understand the regional and global radiative forcing and climate impacts of aerosols, at present and under future climate change. However, aerosol simulations in regional climate models for Africa have not been well-tested. Africa contains the largest single source of biomass-burning smoke aerosols and dust globally. Although aerosols are short-lived relative to greenhouse gases, black carbon in particular is estimated to be second only to carbon dioxide in contributing to warming on a global scale. Moreover, Saharan dust is exported great distances over the Atlantic Ocean, affecting nutrient transport to regions like the Amazon rainforest, which can further impact climate. Biomass burning aerosols are also exported from Africa, westward from Angola over the Atlantic Ocean and off the southeastern coast of South Africa to the Indian Ocean. Here, we perform the first extensive quantitative evaluation of the Conformal-Cubic Atmospheric Model (CCAM) aerosol simulation against monitored data, focusing on aerosol optical depth (AOD) observations over Africa. We analyze historical regional simulations for 1999 - 2012 from CCAM consistent with the experimental design of CORDEX at 50 km global horizontal resolution, through the dynamical downscaling of ERA-Interim data reanalysis data, with the CMIP5 emissions inventory (RCP8.5 scenario). CCAM has a prognostic aerosol scheme for organic carbon, black carbon, sulfate, and dust, and non-prognostic sea salt. The CCAM AOD at 550nm was compared to AOD (observed at 440nm, adjusted to 550nm with the Ångström exponent) from long-term AERONET stations across Africa. Sites strongly impacted by dust and biomass burning and with long continuous records were prioritized. In general, the model captures the monthly trends of the AERONET data. This presentation provides a basis for understanding how well aerosol particles are represented over Africa in

  7. Amphibian malformations

    USGS Publications Warehouse

    National Wildlife Health Center

    1998-01-01

    Frog malformations have been reported from 42 states. The broad geographic distribution of these malformations warrants national attention. Scientists at the USGS National Wildlife Health Center in Madison, Wisconsin are studying this problem in an effort to document its scope and to determine the causes of the observed malformations.

  8. Follicular Adenomatoid Odontogenic Tumor in Mandible: A Rare Case Report

    PubMed Central

    Belgaumi, UI; Parkar, MI; Malik, NA; Suresh, KV; Havewala, AM; Bhalinge, PM

    2015-01-01

    Adenomatoid odontogenic tumor (AOT) is a relatively rare, benign, hamartomatous, and cystic odontogenic neoplasm that was first described more than a century ago. The lesion still continues to intrigue experts with its varied histomorphology and controversies regarding its development. The present article describes a case of cystic AOT with an unusual histomorphology associated with an impacted 44 in a 21-year-old male. PMID:27057389

  9. The adenomatoid odontogenic tumour: an update of selected issues.

    PubMed

    Philipsen, Hans Peter; Khongkhunthiang, Pathawee; Reichart, Peter A

    2016-07-01

    The aim of this update was to present the recent notable progress within remaining questions relating to the adenomatoid odontogenic tumour (AOT). Selected issues that were studied included the following: (i) AOT history and terminology, (ii) the so-called peripheral AOT, (iii) AOT and the gubernaculum dentis and (iv) the so-called adenomatoid odontogenic cyst (AOC). The earliest irrefutable European case of AOT was described in 1915 by Harbitz as 'cystic adamantoma'. Recently, Ide et al. have traced two Japanese cases with irrefutable proof described by Nakayama in 1903. The so-called peripheral (gingival) variant of AOT seems to cover a dual pathogenesis, both an 'erupted intraosseous' and an 'extraosseous' (gingival) one. In 1992, we theorized that the generally unnoticed gubernaculum dentis (cord and canal) seems to be involved in the development of AOT. Ide et al. have concluded that the dental lamina in the gubernacular cord seems to be an embryonic source of the vast majority of AOTs. The suggestion by Marx and Stern to change the nomenclature of AOT to adenomatoid odontogenic cyst (AOC) is critically discussed. The present authors agree on the background of the work of several groups of researchers and WHO/IARC classifications that the biology of the follicular variant of AOT is already fully explained and does not make room for any change in diagnostic terms. Further, there is no reason to change terminology in this case where improvements or conditions to better clinical management are not an issue. PMID:26865435

  10. Chiari Malformation

    MedlinePlus

    Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too ...

  11. Arteriovenous Malformation

    MedlinePlus

    ... to the formation of brain AVMs. NIH Patient Recruitment for Arteriovenous Malformation Clinical Trials At NIH Clinical Center Throughout the U.S. and Worldwide NINDS Clinical Trials Organizations Column1 Column2 Brain Aneurysm Foundation 269 Hanover Street, ...

  12. Brain Malformations

    MedlinePlus

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  13. Congenital pulmonary airway malformation: A report of two cases

    PubMed Central

    Bolde, Saroj; Pudale, Smita; Pandit, Gopal; Ruikar, Kirti; Ingle, Sachin B

    2015-01-01

    Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is not known. It occurs in approximately 1 in every 30000 pregnancies. The association between CPAM and malignancy has been well documented. There is a small risk (0.7%) of malignant transformation within the cyst. So early diagnosis and surgical resection is important to prevent the grave complications. Herein, we are reporting two interesting cases of CPAM and one belonged to Type II and other belonged to Type III of Stocker’s classification. PMID:25984523

  14. A demonstration of the Storz C-CAM in endoscopic imagery projection for far forward battlefield telemetric support and training.

    PubMed

    Boedeker, Ben H; Bernhagen, Mary A; Derrick, Douglas C; Abadia de Barbara, Alberto Hernandez; Del Real Colomo, Antonio; Hillan Garcia, Laura; Setién, Fernando; Nicholas, Thomas A

    2013-01-01

    Airway management skills are essential for healthcare providers within military and civilian settings. To maintain competency in these skills, it is crucial for the provider to have opportunities for review and retraining. Virtual airway training or telementoring can be an effective means to fulfilling these requirements for healthcare providers located in remote sites. The projection of high quality imagery to far forward locations is essential for health care practitioners in the provision of telemedicine and distance training. The Storz C-CAM was developed to interface with existing endoscopy equipment to facilitate implementation of telemetric devices in remote locations. This work describes the use of the Storz C-CAM in providing medical device training to deployed medical personnel at a far forward location. PMID:23400129

  15. Chiari Malformation

    MedlinePlus

    ... Ones & When? Smart School Lunches Emmy-Nominated Video "Cerebral Palsy: Shannon's Story" 5 Things to Know About Zika & ... spine that can lead to nerve damage or paralysis. Chiari malformations also can happen after brain or spinal surgery. Doctors haven't identified a ...

  16. Anorectal malformations

    PubMed Central

    Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

    2015-01-01

    Anorectal malformations (ARMs) are among the more frequent congenital anomalies encountered in paediatric surgery, with an estimated incidence ranging between 1 in 2000 and 1 in 5000 live births. Antenatal diagnosis of an isolated ARM is rare. Most cases are diagnosed in the early neonatal period. There is a wide spectrum of presentation ranging from low anomalies with perineal fistula having simple management to high anomalies with complex management. Advances in the imaging techniques with improvement in knowledge of the embryology, anatomy and physiology of ARM cases have refined diagnosis and initial management. There has been marked improvement in survival of such patient over the last century. The management of ARM has moved forward from classical procedures to PSARP to minimal invasive procedures. But still the fecal and urinary incontinence can occur even with an excellent anatomic repair, mainly due to associated problems. There has been a paradigm shift in approach to these patients which involves holistic approach to the syndrome of Anorectal malformations with a long term goal of achievement of complete fecal and urinary continence with excellent quality of life. PMID:25552824

  17. Mandibular adenomatoid odontogenic tumor: Radiographic and pathologic correlation

    PubMed Central

    More, Chandramani B.; Das, Sunanda; Gupta, Swati; Bhavsar, Khushbu

    2013-01-01

    Adenomatoid odontogenic tumor (AOT) is a rare tumor of epithelial origin comprising 3% of all the odontogenic tumors. It is a benign, painless, noninvasive, and slow-growing lesion, with a relative frequency of 2.2-13% and often misdiagnosed as an odontogenic cyst on clinical examination. AOT affects young individuals with a female predominance, occurs mainly in the second decade, and usually surrounds the crown of unerupted teeth. This lesion is most commonly located in the anterior maxilla and rarely in the mandible. It is usually associated with an impacted canine. AOT frequently resembles lesions like dentigerous cyst or ameloblastoma. AOT has three variants, follicular, extrafollicular, and peripheral. The intraoral periapical radiograph is the best radiograph to show radiopacities in AOT as discrete foci having a flocculent pattern within radiolucency even with minimal calcified deposits. These calcified deposits are seen in approximately 78% of the lesions. Herewith, we present the report of four unusual cases of AOT located in the mandible, with an emphasis on radiographic findings and on pathologic correlation, and on reviewing the existing literature on this tumor. PMID:24082751

  18. Expression of extracellular matrix proteins in adenomatoid odontogenic tumor.

    PubMed

    Modolo, Filipe; Biz, Michelle Tillmann; Martins, Marília Trierveiller; Machado de Sousa, Suzana Orsini; de Araújo, Ney Soares

    2010-03-01

    Altered expression of extracellular matrix (ECM) components has been reported in several pathologies; however, few ECM proteins have been evaluated in adenomatoid odontogenic tumor (AOT). The aim of this study was to analyze the expression and distribution of the ECM proteoglycans: biglycan and decorin; and glycoproteins: osteonectin, osteopontin, bone sialoprotein and osteocalcin in the AOT. Three-micrometer sections from paraffin-embedded specimens were evaluated employing a streptavidin-biotin immunohistochemical method with the antibodies against the proteins previously cited. Only the osteonectin was expressed in the epithelial cells. The eosinophilic amorphous material and the connective tissue showed expression of all components studied. The calcification foci expressed only osteopontin. In conclusion, the low expression of the components studied in neoplastic epithelial cells suggests that the epithelial cells act probably as stimulators of the expression by the stroma, which in turn can act as agonist or antagonist of the tumor growth. These results suggest that the components studied probably have a key role in the biological behavior of the AOT. PMID:20070486

  19. Rare presentation of adenomatoid odontogenic tumor in a pediatric patient: a case report.

    PubMed

    Bonardi, João Paulo; da Costa, Fernanda Herrera; Matheus, Ricardo Alves; Ito, Fabio Augusto; Pereira-Stabile, Cecilia Luiz

    2016-06-01

    The adenomatoid odontogenic tumor (AOT) is a painless benign tumor with slow growth, usually asymptomatic. It has three variants: follicular, extrafollicular, and peripheral. In the follicular type, the tumor is associated with an impacted tooth, and maxillary canines are the most frequently affected. Association with primary teeth is very rare. Treatment consists essentially in a total lesion enucleation. The objective of this paper is to present the clinical case of a 7-year-old female patient with an adenomatoid odontogenic tumor associated with the crown of the left lower deciduous canine (73), dislodging it to the mandibular base and consequently shifting and also impacting the permanent lower canine (33). The lesion was treated with careful enucleation, preserving the permanent canine, which then had its eruption path released favoring its migration to an ideal position. PMID:26584947

  20. Dentigerous Cyst or Adenomatoid Odontogenic Tumor: Clinical Radiological and Histopathological Dilemma

    PubMed Central

    Acharya, Shivesh; Goyal, Ashima; Rattan, Vidya; Vaiphei, Kim; Kaur Bhatia, Sarabjot

    2014-01-01

    Adenomatoid odontogenic tumor (AOT) is a well-recognised slow growing benign tumor derived from complex system of dental lamina or its remnants. This lesion is categorised into three variants of which the more common variant is follicular type which is often mistaken for dentigerous cyst. We present a case of AOT in a 14-year-old male who was misdiagnosed as dentigerous cyst. Clinical radiological and therapeutic characteristics of the case are commented on in detail. PMID:25097553

  1. Surgical management of peripheral variant of adenomatoid odontogenic tumor: A rare case report with review

    PubMed Central

    Jindwani, Karuna; Paharia, Y. K.; Kushwah, Atul Pratap Singh

    2015-01-01

    The adenomatoid odontogenic tumour (AOT) is a relatively uncommon lesion constituting around 3% of all odontogenic tumours and often misdiagnosed as an odontogenic cyst. It manifests as a beningn growth which affects young individuals, with a female predeliction usually in the second decade of life, exhibiting more often in the anterior region of maxilla. The current article enumerates the clinical, radiographic and histopathological features of a rare case of extraosseous AOT with its therapeutic consideration PMID:25684929

  2. Primary adenomatoid tumor of the testis: report of a case and review of literature

    PubMed Central

    Sheng, Binwu; Zhang, Yin-Ping; Wei, Huan-Huan; Ma, Mao; Nan, Xunyi

    2015-01-01

    Adenomatoid tumor (AT) is an extremely rare benign tumor in the testis of infants. A case of 14-month-old boy with testicular adenomatoid tumor was reported in this study. On physical examination, a smooth solid nodule sized 8 mm could be palpated with little tenderness on the head of the right testis. It could be clearly revealed by B ultrasonic scanning and computerized tomography. The patient underwent right radical orchiectomy. In postoperative histopathological study, the tumor was characterized by diffuse sheets of epithelioid cell and desmo-stroma structures. There was positive immunohistochemical staining of mesothelioma-associated antigens. The tumor should be differentiated from the tumor of the male genital tract including benign and malignant tumors of both epithelial and stromal origin. And we followed the case and no nodule was found in his scrotum by physical examination and scrotal ultrasonography after 3, 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 months. These findings have important implications that the histogenesis of adenomatoid tumor of the testis is unclear yet. The diagnosis depends on pathologic studies, and should be differentiated from paratesticular malignant mesothelioma and sclerosed lipogranuloma. Radical surgery is the common choice, and as a result of getting a good prognosis. PMID:26191318

  3. Posterior Mediastinal Adenomatoid Tumor: A Case Report and Review of the Literature

    PubMed Central

    Parekh, Vishwas; Winokur, Thomas; Cerfolio, Robert J.; Stevens, Todd M.

    2016-01-01

    Adenomatoid tumor is an uncommon benign neoplasm of mesothelial differentiation that distinctively arises in and around the genital organs. In rare instances, it has been described in extragenital locations. There have been only two reports documenting its occurrence in the anterior mediastinum, and no reports documenting its occurrence in the posterior mediastinum. We report the first case of posterior mediastinal adenomatoid tumor. A 37-year-old Caucasian woman presented with symptoms of bronchitis. Imaging studies identified a 2.0 cm posterior mediastinal mass abutting the T9 vertebral body, clinically and radiologically most consistent with schwannoma. Histologic sections revealed a lesion composed of epithelioid cells arranged in cords and luminal profiles embedded in a fibrotic to loose stroma and surrounded by a fibrous pseudocapsule. Lesional cells showed vacuolated eosinophilic cytoplasm and peripherally displaced nuclei with prominent nucleoli. There was focal cytologic atypia but no mitotic figures or necrosis was identified. The lesional cells expressed cytokeratin, calretinin, and nuclear WT1 but were negative for PAX8, TTF1, p53, chromogranin, CD31, and CD34, and Ki67 showed <2% proliferation rate, diagnostic of adenomatoid tumor. Three years after resection, the patient is in good health without tumor recurrence. Thus, our encounter effectively expands the differential diagnosis of posterior mediastinal neoplastic entities. PMID:27293940

  4. Intraoral venous malformation with phleboliths

    PubMed Central

    Mohan, Ravi Prakash S.; Dhillon, Manu; Gill, Navneet

    2011-01-01

    The most common type of vascular malformation is the venous malformation and these are occasionally associated with phleboliths. We report a case of a 45 year old woman with intraoral venous malformation with phleboliths. PMID:24151422

  5. Adenomatoid odontogenic tumor with dentigerous cyst: Report of a rare case with review of literature

    PubMed Central

    Singh, Vikramjeet; Goyal, Sunder; Sheikh, Soheyl; Shambulingappa, P.; Singh, Balwinder; Singh, Ravinder

    2012-01-01

    Adenomatoid odontogenic tumor (AOT) is a benign lesion derived from the complex system of dental lamina or its remnant. It is categorized into three variants (follicular, extrafollicular, and peripheral). We present a rare case of AOT arising from a dentigerous cyst around the unerupted canine in a 28-year-old female. We believe that this case z an odontogenic cyst with neoplastic development, containing both epithelial and mesenchymal components. As more cases accumulate, we will be able to study these rare lesions further whether the AOTs derived from an odontogenic cyst could represent a distinct “hybrid” variant separate to the three variants described thus far. PMID:23230373

  6. Adenomatoid odontogenic tumor associated with an unerupted mandibular lateral incisor: a case report

    PubMed Central

    2015-01-01

    Adenomatoid odontogenic tumor (AOT) is a rare, benign odontogenic tumor that predominantly appears in the second decade of life in female patients. Most AOTs occur in the anterior part of the maxilla and are usually associated with impacted anterior teeth. There are three types of AOT, follicular, extrafollicular, and peripheral, which are classified based on the location of the lesion and its association with the impacted tooth. We report a rare case of AOT associated with an impacted right mandibular lateral incisor in an 11-year-old female patient. PMID:26734563

  7. Cerebellar and Brainstem Malformations.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-08-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of cerebellar and brainstem malformations has been shown. Familiarity with the spectrum of cerebellar and brainstem malformations and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. This article discusses cerebellar and brainstem malformations, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and recurrence. PMID:27423798

  8. Pediatric neuroanesthesia. Arteriovenous malformations.

    PubMed

    Newfield, P; Hamid, R K

    2001-06-01

    Intracranial arteriovenous malformations can occur singly, multiply, and in conjunction with aneurysms and denovo, family, or in conjunction with connective-tissue disorders. Intracranial hemorrhage is the most common presentation, occurring in 20% to 50% of cases. In children, seizures are the second most common presentation occurring in 15% to 20% of cases. The modalities available treatment of arteriovenous malformations are microsurgery, embolization, and stereotactic radiosurgery with heavy particles, alpha knife, or linear accelerator. Induction, maintenance, and emergence from anesthesia are designed to prevent rupture of arteriovenous malformation and aneurysm and to improve intracranial compliance in the presence of an intracranial hematoma, during both diagnostic (CT, MR scanning) and therapeutic procedures. PMID:11469062

  9. Characteristic features of the adenomatoid odontogenic tumour on cone beam CT

    PubMed Central

    Jiang, M; Wang, H; Xu, L

    2014-01-01

    Objectives: To illustrate characteristic features of adenomatoid odontogenic tumour (AOT) on CBCT. Methods: The archived CBCT and panoramic radiographs of eight patients histopathologically diagnosed as AOT were analysed. The radiographic features displayed on both radiographic images were carefully described and compared. Results: All eight AOT cases presented as unilocular and well-demarcated lesions on both CBCT and panoramic images. CBCT images displayed three-dimensional interpretation of AOT lesions, especially the detailed intralesional radiopacities. Numerous discrete radiopaque foci scattered in the lesion with evident contrast to the radiolucent background could be considered as one of the characteristic features of AOT on CBCT. Conclusions: Compared with panoramic radiography, CBCT seems to possess better potential in diagnosing AOT. PMID:24940808

  10. Nasal Cavity Masses Resembling Chondro-osseous Respiratory Epithelial Adenomatoid Hamartomas in 3 Dogs.

    PubMed

    LaDouceur, E E B; Michel, A O; Lindl Bylicki, B J; Cifuentes, F F; Affolter, V K; Murphy, B G

    2016-05-01

    Chondro-osseous respiratory epithelial adenomatoid hamartomas (COREAHs) are rare tumors in the nasal cavity of people, which have not been described in other species. COREAHs in people are minimally invasive and rarely recur following excision. Histologically, these tumors are composed of disorganized, mature, nasal turbinate tissue that is organized into polypoid growths. These growths are lined by respiratory epithelium, contain glandular elements, and are organized around central cores of chondro-osseous matrix. This report describes 3 cases of dogs with nasal tumors that have histomorphology similar to that of COREAH in people. The tumors were all identified within the nasal cavity and were associated with regional bony lysis of the turbinates and surrounding skull bones, a feature that has not been reported in COREAH in people. There was no evidence of metastasis or extension beyond the nasal cavity in any of the 3 cases. PMID:26253881

  11. Case Presentation of Concomitant and Contiguous Adenomatoid Odontogenic Tumor and Focal Cemento-Ossifying Dysplasia

    PubMed Central

    Rezvani, Gita; Donoghue, Mandana; Reichart, Peter A; Pazuhi, Neda

    2015-01-01

    A 24 year-old male was presented for the diagnosis of an asymptomatic bony expansion in relation to the right maxillary canine and first premolar. The unilocular radiolucent lesion with central foci of calcification had caused divergence of canine and first premolar roots without any resorption. This case report details a diagnosis of two distinct disease processes of different cellular origin namely, focal cemento-ossifying dysplasia and adenomatoid odontogenic tumor in a previously unreported concomitant and contiguous relationship. The diagnosis was determined by a combination of clinical, radiographic, histopathological and surgical evidence. This case highlights two points, first the need to examine all mixed radiolucent-radiopaque lesions with advanced imaging techniques to assess the number and extent of the lesions prior to treatment planning. Second a likely role of periodontal ligament as the tissue source for odontogenic epithelial cells and mesenchymal stem cells required for the development of odontogenic tumors and cemento-osseous dysplasias. PMID:26464605

  12. Etiologies of uterine malformations.

    PubMed

    Jacquinet, Adeline; Millar, Debra; Lehman, Anna

    2016-08-01

    Ranging from aplastic uterus (including Mayer-Rokitansky-Kuster-Hauser syndrome) to incomplete septate uterus, uterine malformations as a group are relatively frequent in the general population. Specific causes remain largely unknown. Although most occurrences ostensibly seem sporadic, familial recurrences have been observed, which strongly implicate genetic factors. Through the study of animal models, human syndromes, and structural chromosomal variation, several candidate genes have been proposed and subsequently tested with targeted methods in series of individuals with isolated, non-isolated, or syndromic uterine malformations. To date, a few genes have garnered strong evidence of causality, mainly in syndromic presentations (HNF1B, WNT4, WNT7A, HOXA13). Sequencing of candidate genes in series of individuals with isolated uterine abnormalities has been able to suggest an association for several genes, but confirmation of a strong causative effect is still lacking for the majority of them. We review the current state of knowledge about the developmental origins of uterine malformations, with a focus on the genetic variants that have been implicated or associated with these conditions in humans, and we discuss potential reasons for the high rate of negative results. The evidence for various environmental and epigenetic factors is also reviewed. © 2016 Wiley Periodicals, Inc. PMID:27273803

  13. Treatment of congenital malformations.

    PubMed

    Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

    2011-03-01

    The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively. PMID:21437824

  14. Arteriovenous Malformation Management

    SciTech Connect

    Yakes, Wayne F.; Rossi, Plinio; Odink, Henk

    1996-11-15

    Arteriovenous malformations (AVM) are rare vascular lesions that can present with a myriad of clinical presentations. In our institutions, initial workup consists of a clinical exam, color Doppler imaging, and magnetic resonance imaging. After the initial noninvasive workup, arteriography, at times closed system venography, and ethanol endovascular repair of the AVM is performed under general anesthesia. Depending on the size of the lesion, additional Swan-Ganz line and arterial line monitoring are performed. Patients are usually observed overnight and uneventfully discharged the following day if no complication occurs. Patients are followed at periodic intervals despite cure of their lesion. Long-term follow-up is essential in AVM management.

  15. Chiari-like Malformation.

    PubMed

    Loughin, Catherine A

    2016-03-01

    Chiari-like malformation is a condition of the craniocervical junction in which there is a mismatch of the structures of the caudal cranial fossa causing the cerebellum to herniate into the foramen magnum. This herniation can lead to fluid buildup in the spinal cord, also known as syringomyelia. Pain is the most common clinical sign followed by scratching. Other neurologic signs noted are facial nerve deficits, seizures, vestibular syndrome, ataxia, menace deficit, proprioceptive deficits, head tremor, temporal muscle atrophy, and multifocal central nervous system signs. MRI is the diagnostic of choice, but computed tomography can also be used. PMID:26631589

  16. Current Concepts and Occurrence of Epithelial Odontogenic Tumors: I. Ameloblastoma and Adenomatoid Odontogenic Tumor

    PubMed Central

    Kim, Yeon Sook

    2013-01-01

    Ameloblastomas and adenomatoid odontogenic tumors (AOTs) are common epithelial tumors of odontogenic origin. Ameloblastomas are clinico-pathologically classified into solid/multicystic, unicystic, desmoplastic, and peripheral types, and also divided into follicular, plexiform, acanthomatous, granular types, etc., based on their histological features. Craniopharyngiomas, derived from the remnants of Rathke's pouch or a misplaced enamel organ, are also comparable to the odontogenic tumors. The malignant transformation of ameloblastomas results in the formation of ameloblastic carcinomas and malignant ameloblastomas depending on cytological dysplasia and metastasis, respectively. AOTs are classified into follicular, extrafollicular, and peripheral types. Ameloblastomas are common, have an aggressive behavior and recurrent course, and are rarely metastatic, while AOTs are hamartomatous benign lesions derived from the complex system of the dental lamina or its remnants. With advances in the elucidation of molecular signaling mechanisms in cells, the cytodifferentiation of epithelial tumor cells in ameloblastomas and AOTs can be identified using different biomarkers. Therefore, it is suggested that comprehensive pathological observation including molecular genetic information can provide a more reliable differential diagnosis for the propagation and prognosis of ameloblastomas and AOTs. This study aimed to review the current concepts of ameloblastomas and AOTs and to discuss their clinico-pathological features relevant to tumorigenesis and prognosis. PMID:23837011

  17. An unusually large aggressive adenomatoid odontogenic tumor of maxilla involving the third molar: A clinical case report

    PubMed Central

    Dhupar, Vikas; Akkara, Francis; Khandelwal, Pulkit

    2016-01-01

    Adenomatoid odontogenic tumor (AOT) is a rare tumor comprising only 3% of all odontogenic tumors. It is a benign, encapsulated, noninvasive, nonaggressive, slowly growing odontogenic lesion associated with an impacted tooth. These lesions may go unnoticed for years. The usual treatment is enucleation and curettage, and the lesion does not recur. Here, we present a rare case of an unusually large aggressive AOT of maxilla associated with impacted third molar. The authors also discuss clinical, radiographic, histopathologic, and therapeutic features of the case. Subtotal maxillectomy with simultaneous reconstruction of the surgical defect with temporalis myofascial flap was planned and carried out. PMID:27095910

  18. Brain arteriovenous malformations.

    PubMed

    Ferrara, Adi R

    2011-01-01

    An arteriovenous malformation (AVM) is a particular abnormality of blood vessels. Brain AVMs are congenital, but symptoms usually do not appear until the second decade of life - if at all. The most common presenting symptom is a brain hemorrhage, but other possible symptoms include neurological deficits, seizures and headaches. Until recently, the gold standard for diagnosing AVM was conventional angiography. However, computed tomography and magnetic resonance angiography are now the first-line diagnostic tools for AVMs. This article reviews the presenting symptoms, diagnostic procedures and treatment options for brain AVMs, including embolization, micro-surgery and radiosurgery. This article is a Directed Reading. Your access to Directed Reading quizzes for continuing education credit is determined by your CE preference. For access to other quizzes, go to www.asrt.org/store. PMID:21771938

  19. Systemic to pulmonary vascular malformation.

    PubMed

    Pouwels, H M; Janevski, B K; Penn, O C; Sie, H T; ten Velde, G P

    1992-11-01

    A case is reported of life-threatening haemoptysis as a result of an anomalous communication between a bronchial artery and pulmonary vein, demonstrated by angiography. The patient recovered following bilobectomy of the right lower and middle lobes. When a systemic artery is involved in an arteriovenous malformation of the lung, haemodynamics are different compared with those present in malformations fed by the pulmonary artery. This implicates other clinical features, options for surgical intervention and prognosis. In reviewing the literature, a relationship with Rendu-Osler-Weber disease is absent in these specific malformations. PMID:1486979

  20. Critical evaluation of the radiological and clinical features of adenomatoid odontogenic tumour

    PubMed Central

    Becker, T; Buchner, A; Kaffe, I

    2012-01-01

    Objectives The aim of this study was to evaluate the radiological and clinical features of adenomatoid odontogenic tumours (AOTs). Methods A total of 272 cases (267 from the English-language literature and 5 new cases) were analysed with special emphasis on their radiological features. Results The patients' ages at time of diagnosis ranged from 3 years to 82 years (mean 18.4 years). The maxilla-to-mandible ratio was 1.7:1. Mandibular lesions were significantly more frequent among patients older than 16 years (p = 0.032). Expansion of the cortex was significantly more prominent among patients older than 16 years (p = 0.045). There was a positive correlation between the size of the lesion and the age of the patient at the time of diagnosis (p = 0.016). The size was also associated with increased root resorption (p < 0.001), ill-defined borders (p < 0.001), expansion (p < 0.001) and perforation of the cortex (p < 0.001). Small opacities were present in 77% of lesions and were associated with expansion of the cortex (p = 0.043). The significant radiological features in patients aged 30 years and above were root resorption (p = 0.013) and lesions crossing the midline (p = 0.019). Conclusions The size of an AOT is influenced by the patient's age. It is also associated with root resorption, ill-defined borders, expansion and perforation of the cortex, but it cannot be ruled out that those changes reflect a longer duration of the lesion. PMID:22752319

  1. Arteriovenous malformations of the bladder.

    PubMed

    Grunberger, I; DeAsis, A; Torno, R; Godec, C J

    1989-01-01

    We report a rare case of a localized arteriovenous malformation of the bladder mimicking a bladder tumor and presenting with gross hematuria. The mass was successfully resected transurethrally. PMID:2908934

  2. Embolization of uterine arteriovenous malformation

    PubMed Central

    Chen, Yan; Wang, Guoyun; Xie, Fubo; Wang, Bo; Tao, Guowei; Kong, Beihua

    2013-01-01

    Background: Uterine arteriovenous malformation is a rare but potential life-threatening source of bleeding. A high index of suspicion and accurate diagnosis of the condition in a timely manor are essential because instrumentation that is often used for other sources of uterine bleeding can be lead to massive hemorrhage. Case: We describe here a case of uterine arteriovenous malformation. A 32-year-old woman presented abnormal vaginal bleeding following the induced abortion. A diagnosis of uterine arteriovenous malformation made on the basis of Doppler ultrasonraphy was confirmed through pelvic angiography. The embolization of bilateral uterine arteries was performed successfully. Conclusion: Uterine arteriovenous malformation should be suspected in patient with abnormal vaginal bleeding, especially who had the past medical history incluing cesarean section, induced abortion, or Dillation and Curethage and so on. Although angiography remains the gold standard, Doppler ultrasonography is also a good noninvasive technique. The transcatheter uterine artery embolization offers a safe and effective treatment PMID:24639742

  3. Malformations of cortical development

    PubMed Central

    Pang, Trudy; Atefy, Ramin; Sheen, Volney

    2012-01-01

    Background Malformations of cortical development (MCD) are increasingly recognized as an important cause of epilepsy and developmental delay. MCD encompass a wide spectrum of disorders with various underlying genetic etiologies and clinical manifestations. High resolution imaging has dramatically improved our recognition of MCD. Review Summary This review will provide a brief overview of the stages of normal cortical development, including neuronal proliferation, neuroblast migration, and neuronal organization. Disruptions at various stages lead to characteristic MCD. Disorders of neurogenesis give rise to microcephaly (small brain) or macrocephaly (large brain). Disorders of early neuroblast migration give rise to periventricular heterotopia (neurons located along the ventricles), whereas abnormalities later in migration lead to lissencephaly (smooth brain) or subcortical band heterotopia (smooth brain with a band of heterotopic neurons under the cortex). Abnormal neuronal migration arrest give rise to over-migration of neurons in cobblestone lissencephaly. Lastly, disorders of neuronal organization cause polymicrogyria (abnormally small gyri and sulci). This review will also discuss the known genetic mutations and potential mechanisms that contribute to these syndromes. Conclusion Identification of various gene mutations has not only given us greater insight into some of the pathophysiologic basis of MCD, but also an understanding of the processes involved in normal cortical development. PMID:18469675

  4. Pulmonary arteriovenous malformations.

    PubMed

    Shovlin, Claire L

    2014-12-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ~1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  5. Pulmonary Arteriovenous Malformations

    PubMed Central

    2014-01-01

    Within the past decade, pulmonary arteriovenous malformations (PAVMs) have evolved from rare curiosities to not uncommon clinical states, with the latest estimates suggesting a prevalence of ∼1 in 2,600. PAVMs provide anatomic right-to-left shunts, allowing systemic venous blood to bypass gas exchange and pulmonary capillary bed processing. Hypoxemia and enhanced ventilatory demands result, although both are usually asymptomatic. Paradoxical emboli lead to strokes and cerebral abscesses, and these commonly occur in individuals with previously undiagnosed PAVMs. PAVM hemorrhage is rare but is the main cause of maternal death in pregnancy. PAVM occlusion by embolization is the standard of care to reduce these risks. However, recent data demonstrate that currently recommended management protocols can result in levels of radiation exposure that would be classified as harmful. Recent publications also provide a better appreciation of the hematologic and cardiovascular demands required to maintain arterial oxygen content and oxygen consumption in hypoxemic patients, identify patient subgroups at higher risk of complications, and emphasize the proportion of radiologically visible PAVMs too small to treat by embolization. This review, therefore, outlines medical states that exacerbate the consequences of PAVMs. Chief among these is iron deficiency, which is commonly present due to concurrent hereditary hemorrhagic telangiectasia: iron deficiency impairs hypoxemia compensations by restricting erythropoiesis and increases the risk of ischemic strokes. Management of periodontal disease, dental interventions, pulmonary hypertension, and pregnancy also requires specific consideration in the setting of PAVMs. The review concludes by discussing to what extent previously recommended protocols may benefit from modification or revision. PMID:25420112

  6. Why study human limb malformations?

    PubMed Central

    Wilkie, Andrew OM

    2003-01-01

    Congenital limb malformations occur in 1 in 500 to 1 in 1000 human live births and include both gross reduction defects and more subtle alterations in the number, length and anatomy of the digits. The major causes of limb malformations are abnormal genetic programming and intra-uterine disruption to development. The identification of causative gene mutations is important for genetic counselling and also provides insights into the mechanisms controlling limb development. This article illustrates some of the lessons learnt from the study of human limb malformation, organized into seven categories. These are: (1) identification of novel genes, (2) allelic mutation series, (3) pleiotropy, (4) qualitative or (5) quantitative differences between mouse and human development, (6) physical and teratogenic disruption, and (7) unusual biological phenomena. PMID:12587917

  7. The role of stroma in the expansion of odontogenic cysts and adenomatoid odontogenic tumor: A polarized microscopy study

    PubMed Central

    Mahajan, Aarti M.; Mahajan, Mahendra C.; Ganvir, S. M.; Hazarey, V. K.

    2013-01-01

    Objectives: To compare the polarization colors of collagen fibers of odontogenic keratocyst (OKC), radicular cyst, dentigerous cyst, and adenomatoid odontogenic tumor (AOT) with reference to their biological behavior. Study Design: Twenty cases each of OKC, radicular cyst, dentigerous cyst, and AOT were stained with picrosirius red stain and studied under polarized light. Results: A predominance of green to greenish yellow thick fibers was noted in OKC and AOT as compared to dentigerous cyst and radicular cyst. There was no significant difference between the polarization colors of the thin fibers in all the three groups. Conclusion: The stroma of OKC and AOT consists of poorly packed or pathologic collagen and plays a role in its neoplastic behavior. PMID:24082724

  8. Evolutionary origin of cardiac malformations.

    PubMed

    Taussig, H B

    1988-10-01

    The author has proposed in previous publications that isolated cardiac malformations have an evolutionary origin. This is partly supported by the fact that isolated cardiac malformations found in humans occur also in other placental mammals as well as in birds. External gross examination of the heart in just over 5,000 birds was carried out during a 3 year period. Anomalies included one instance of duplicate hearts, two specimens in which no heart could be identified and in a fourth, a yellow-rumped warbler, the heart lay in the neck outside of the thoracic cavity. Published reports of similar occurrences of an ectopically placed heart concern birds, cattle and humans. The fact that various species of both placental mammals and birds show evidence of heritability for heart defects, and that these species cannot interbreed, combined with the fact that birds and mammals have many similar malformations, points to either a common external causative factor or a common origin. Genes that code the malformed heart must be transmitted with that part of the genetic makeup common to all birds and mammals. Malformations caused by teratogens produce widespread organ injury to a potentially normal embryo whereas the evolutionary malformation is an organ-specific anomaly in an otherwise normal mammal or bird and occurs in widely separated species. The implications of this theory are important for parents of children with an isolated congenital heart defect who may have ingested one or another drug or chemical or have been exposed to toxins or infectious agents before or after conception of the affected offspring. PMID:3047192

  9. Genetics Home Reference: Dandy-Walker malformation

    MedlinePlus

    ... All Close All Description Dandy-Walker malformation affects brain development, primarily development of the cerebellum , which is the ... Walker malformation , signs and symptoms caused by abnormal brain development are present at birth or develop within the ...

  10. Arteriovenous malformation of nose-revision surgery.

    PubMed

    Srinivas, C V; Kailash, N; Kailas, Gayattre; Divya Jyothi, N

    2012-12-01

    Areteriovenous malformations are rare in the head and neck region and generally arise from intracranial vessels. We present one rare case with spontaneous arteriovenous malformations related to the nose. PMID:24294582

  11. Intracranial vascular malformations: MR and CT imaging

    SciTech Connect

    Kucharczyk, W.; Lemme-Pleghos, L.; Uske, A.; Brant-Zawadzki, M.; Dooms, G.; Norman, D.

    1985-08-01

    Twenty-four patients with 29 cerebrovascular malformations were evaluated with a combination of computed tomography (CT), angiography, and magnetic resonance (MR) imaging. Characteristics of the malformations on MR images were reviewed retrospectively, and a comparative evaluation of MR and CT images was made. Of 14 angiographically evident malformations, 13 intra-axial lesions were detected on both CT and MR images, and one dural malformation gave false-negative results on both modalities. The appearance of parenchymal lesions on MR images closely mirrored characteristic CT findings. Angiographically evident malformations have a highly characteristic appearance on MR images. MR may be more sensitive than CT in the detection of small hemorrhagic foci associated with cryptic arteriovenous malformations and may add specificity in the diagnosis of occult malformations in some cases, but MR is less sensitive than CT for the detection of small calcified malformations.

  12. Reconstruction of middle ear malformations

    PubMed Central

    Schwager, Konrad

    2008-01-01

    Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid and the middle ear space may be underdevelopped, the ossicular chain is dysplastic. Surgical therapy is possible in patients with good aeration of the temporal bone, existing windows, a near normal positioned facial nerve and a mobile ossicular chain. Plastic and reconstructive surgery of the pinna should proceed the reconstruction of the external auditory canal and middle ear. In cases of good prognosis unilateral aural atresia can be approached already in childhood. In patients with high risk of surgical failure, bone anchored hearing aids are the treatment of choice. Recent reports of implantable hearing devices may be discussed as an alternative treatment for selected patients. PMID:22073077

  13. Overgrowth syndromes with vascular malformations.

    PubMed

    Hagen, Solveig L; Hook, Kristen P

    2016-03-01

    This review provides a clinically-oriented summary of the most commonly encountered overgrowth syndromes associated with vascular malformations. This manuscript will outline morphologic features, clinical evaluation and management of this complex group of patients. Recent genetic advances have aided in classification and help to explain overlapping clinical features in many cases. PMID:27607325

  14. Galenic arteriovenous malformation with precocious puberty.

    PubMed

    Ventureyra, E C; Badejo, A

    1984-01-01

    Pineal lesions may appear with precocious puberty. In this report, a patient with precocious puberty and macrogenitosomia caused by an arteriovenous malformation in the pineal region is presented. This vascular malformation was not visualized during investigations 3 years before the present series. It appears that the vascular malformation increased considerably in size within a 3-year period. This case suggests that some arteriovenous malformations may take a malignant course, increasing rapidly in size and behaving like tumors by causing destruction and compression of surrounding structures. This case seems to be unique because, to the best of our knowledge, an arteriovenous malformation associated with precocious puberty has never been described previously. PMID:6689808

  15. Intraneural Venous Malformations of the Median Nerve

    PubMed Central

    González Rodríguez, Alba; Midón Míguez, José

    2016-01-01

    Venous malformations arising from the peripheral nerve are a rare type of vascular malformation. We present the first case of an intraneural venous malformation of the median nerve to be reported in a child and review the previous two cases of median nerve compression due to a venous malformation that have been reported. These cases presented with painless masses in the volar aspect of the wrist or with symptoms suggestive of carpal tunnel syndrome. Clinical suspicion should lead to the use of Doppler ultrasonography as the first-line diagnostic tool. Magnetic resonance imaging and histopathology can confirm the diagnosis, as phleboliths are pathognomonic of venous malformations. Surgical treatment appears to be the only modality capable of successfully controlling the growth of an intraneural malformation. Sclerotherapy and radiotherapy have never been used to treat this type of malformation. PMID:27462571

  16. Congenital malformations in diabetic offspring.

    PubMed

    Temesio, P; Belitzky, R; Gallego, L; Martell, M; Pose, S V

    1977-01-01

    A retrospective study of 215 deliveries in diabetic mothers at Hospital de Clínicas (Montevideo, Uruguay) has been performed. Presence of congenital malformations (CM) was considered in relation to age of the mothers, class of maternal diabetes, maternal angiopathy, treatment and metabolic control. The prevalence of CM in the series was 9.8%. None of the factors analyzed seems to be statistically linked to the prevalence of CM. PMID:613685

  17. [Maternal imagination and congenital malformations].

    PubMed

    Van Heiningen, Teunis Willem

    2011-01-01

    Since antiquity philosophers and scientists tried to explain the cause of congenital malformations. In early modern medicine maternal imagination was largely accepted as their true cause, This concept was rejected by Blondel, a London physician. Around 1750 Wolff introduced the Hemmungsbildung as the cause of congenital malformations, a concept adopted in 1781 by Blumenbach. Later on Soemmerring (1784), Crichton (1785) and Meckel the younger adopted Blumenbach's concept. In 1824 Suringar further developed it. More and more the excessive development of fetal blood vessels or nerves was rejected as a possible cause, although from time to time these ideas were adopted again. In the early 1800s Etienne Geoffroy Saint-Hilaire (1811) and Vrolik (1817) developed a classification of monstra. These attempts urged Isidore Geoffroy Saint-Hilaire (Etienne's son) and Vrolik the younger (Gerard's son) to develop it further. Nevertheless, around 1840 Vrolik had to admit that although we are well acqainted with the various malformations, we are still ignorant of the primary cause of these phenomena. Meanwhile the dispute between the adherents of the theory of preformation and those who had adopted the concept of epigenesis exercised many minds. In the second half of the eighteenth century the latter theory became more and more adopted and this fact cleared the way for the ideas introduced by Wolff and Blumenbach, because it was consistent with the idea of a gradual development of fetal structures. PMID:22073754

  18. Cryptic vascular malformations involving the brainstem

    SciTech Connect

    Yeates, A.; Enzmann, D.

    1983-01-01

    Six patients with angiographically cryptic vascular malformations involving the brainstem were examined with computed tomography (CT). The clinical and CT findings of cryptic vascular malformations of the brainstem are described and distinguished from those of brainstem glioma and multiple sclerosis. Calcification within a brainstem lesion that displays relatively little mass effect and shows little contrast enhancement, particularly when associated with a long history of waxing and waning brainstem symptoms, should suggest a vascular malformation.

  19. Chiari Malformations and Syringohydromyelia in Children.

    PubMed

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2016-04-01

    Chiari malformations are a heterogeneous group of disorders with distinct clinical anatomical features all of which involve the hindbrain. Our understanding of Chiari malformations increased tremendously over the past decades, and progress in neuroimaging was instrumental for that. Conventional and advanced neuroimaging of the brain and spine play a key role in the workup of children with suspected Chiari malformations. In addition, neuroimaging studies in Chiari malformations may guide the management, serve as a predictor of outcome, and shed light on the pathogenesis. PMID:27063663

  20. T-Helper Type 9 Cells Play a Central Role in the Pathogenesis of Respiratory Epithelial Adenomatoid Hamartoma.

    PubMed

    Gu, Zhao Wei; Wang, Yun Xiu; Cao, Zhi Wei

    2015-07-01

    The etiology and pathogenesis of respiratory epithelial adenomatoid hamartoma (REAH) remain poorly understood, although some reports have suggested that REAH features an inflammatory process. T-helper type 9 (Th9) cells are a newly identified subset of CD4 T-helper cells characterized by the expression of high levels of interleukin (IL)-9, which may promote inflammation. As REAH may involve an inflammatory process, we evaluated whether IL-9 and/or Th9 cells were present in REAH and compared the levels thereof to those of normal nasal mucosa. Eleven patients with REAH and 5 exhibiting cerebrospinal fluid leakage were included in the study. Flow cytometry was used to measure Th9 cell numbers, a cytometric bead assay was applied to measure IL-9 levels, and real-time polymerase chain reaction was used to quantify the levels of mRNA encoding IL-9. Th9 cells, IL-9 mRNA, and IL-9 were detected in all REAH and control samples. The proportion of Th9 cells in the patients with REAH was significantly greater than that in the controls. The expression levels of IL-9-encoding mRNA and IL-9 protein were significantly higher in the patients with REAH than in the controls. The Th9 cell subset was expanded, the synthesis of IL-9-encoding mRNA was upregulated, and IL-9 secretion was increased in REAH tissue, suggesting that Th9 cells play a central role in the pathogenesis of the disease. PMID:26131817

  1. Diffuse malformations of cortical development.

    PubMed

    Bahi-Buisson, Nadia; Guerrini, Renzo

    2013-01-01

    Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Advances in imaging and genetics have improved the diagnosis and classification of these conditions. Up to now, eight genes have been involved in different types of MCD. Lissencephaly-pachygyria and subcortical band heterotopia (SBH) represent a malformative spectrum resulting from mutations of either LIS1 or DCX genes. LIS1 mutations cause a more severe malformation in the posterior brain regions. DCX mutations usually cause anteriorly predominant lissencephaly in males and SBH in female patients. Additional forms are X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia associated with mutations of the ARX gene. Lissencephaly with cerebellar hypoplasia (LCH) encompass heterogeneous disorders named LCH types a to d. LCHa is related to mutation in LIS1 or DCX, LCHb with mutation of the RELN gene, and LCHd could be related to the TUBA1A gene. Polymicrogyria encompasses a wide range of clinical, etiological, and histological findings. Among several syndromes, recessive bilateral fronto-parietal polymicrogyria has been associated with mutations of the GPR56 gene. Bilateral perisylvian polymicrogyria has been associated with mutations in the SRPX2 gene in a few individuals and with linkage to chromosome Xq28 in a some other families. X-linked bilateral periventricular nodular heterotopia (PNH) consists of PNH with focal epilepsy in females and prenatal lethality in males. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. It is possible to infer the most likely causative gene by brain imaging studies and other clinical findings. PMID:23622213

  2. Developmental venous anomaly, capillary telangiectasia, cavernous malformation, and arteriovenous malformation: spectrum of a common pathological entity?

    PubMed

    Kalani, M Yashar S; Zabramski, Joseph M; Martirosyan, Nikolay L; Spetzler, Robert F

    2016-03-01

    Vascular malformations of the central nervous system are thought to originate from abnormal developmental processes during embryogenesis. Reports have cited the dynamic nature of these lesions and their "maturation" into other types of malformations. Herein we report on three patients with vascular malformations who exhibited dynamic alterations with stepwise progression of their lesions. These cases lend support to the hypothesis that these malformations may constitute the spectrum of a single disease caused by alterations in a common developmental program and that accumulating injury (e.g., by radiation) may allow one malformation type to mature into another. This concept warrants further investigation. PMID:26743915

  3. Megadolicho vascular malformation of the intracranial arteries.

    PubMed

    Lodder, J; Janevski, B; van der Lugt, P J

    1981-01-01

    A patient is presented suffering a hemiparesis. Megadolicho-vascular malformation of the intracranial part of the internal carotid arteries and some of its branches and of the basilar artery was suggested by CT and confirmed by angiography. The value of CT compared with angiography in relation to intracranial megadolicho vascular malformations is discussed. PMID:6273040

  4. Visual Fixation in Chiari Type II Malformation

    PubMed Central

    Salman, Michael S.; Sharpe, James A.; Lillakas, Linda; Dennis, Maureen; Steinbach, Martin J.

    2011-01-01

    Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for 1 minute. Thirty-eight age-matched healthy participants served as controls. Square wave jerks’ parameters were similar in the 2 groups. Saccadic oscillations were not seen. Chiari type II malformation is not associated with pathological square wave jerks or abnormal saccadic oscillations. The congenital nature of this deformity may permit compensation that preserves stable visual fixation. Alternatively, the deformity of Chiari type II malformation may spare parts of the cerebellum that usually cause fixation instability when damaged. PMID:19182152

  5. Pathogenesis of Brain Arteriovenous Malformations

    PubMed Central

    KOMIYAMA, Masaki

    2016-01-01

    Brain arteriovenous malformations (bAVMs) represent a high risk of intracranial hemorrhages, which are substantial causes of morbidity and mortality of bAVMs, especially in children and young adults. Although a variety of factors leading to hemorrhages of bAVMs are investigated extensively, their pathogenesis is still not well elucidated. The author has reviewed the updated data of genetic aspects of bAVMs, especially focusing on clinical and experimental knowledge from hereditary hemorrhagic telangiectasia, which is the representative genetic disease presenting with bAVMs caused by loss-of-function in one of the two genes: endoglin and activin receptor-like kinase 1. This knowledge may allow us to infer the pathogensis of sporadic bAVMs and in the development of new medical therapies for them. PMID:27076383

  6. Advanced Imaging of Chiari 1 Malformations.

    PubMed

    Fakhri, Akbar; Shah, Manish N; Goyal, Manu S

    2015-10-01

    Type I Chiari malformations are congenital deformities involving cerebellar tonsillar herniation downward through the foramen magnum. Structurally, greater than 5 mm of tonsillar descent in adults and more than 6 mm in children is consistent with type I Chiari malformations. However, the radiographic severity of the tonsillar descent does not always correlate well with the clinical symptomatology. Advanced imaging can help clinically correlate imaging to symptoms. Specifically, cerebrospinal fluid (CSF) flow abnormalities are seen in patients with type I Chiari malformation. Advanced MRI involving cardiac-gated and phase-contrast MRI affords a view of such CSF flow abnormalities. PMID:26408061

  7. Vascular Malformations: Approach by an Interventional Radiologist

    PubMed Central

    Pimpalwar, Sheena

    2014-01-01

    Children with vascular malformations are best managed with a multidisciplinary team of specialists. Interventional radiology may deliver primary treatment such as staged sclerotherapy and embolization for malformations that are poor candidates for primary surgical resection or play a supportive role such as preoperative or intraoperative embolization. A thorough understanding of vascular morphology and flow dynamics is imperative to choosing the best treatment tool and technique. In this review, the author discusses the selection of techniques and tools used to treat vascular malformations based on their angiographic morphology. PMID:25045335

  8. Prenatal pharmacotherapy for fetal anomalies: a 2011 update.

    PubMed

    Hui, Lisa; Bianchi, Diana W

    2011-07-01

    Fetal therapy can be defined as any prenatal treatment administered to the mother with the primary indication to improve perinatal or long-term outcomes for the fetus or newborn. This review provides an update of the pharmacological therapies that are solely directed at the fetus with anomalies and outlines a future transcriptomic approach. Fetal anomalies targeted with prenatal pharmacotherapy are a heterogeneous group of structural, endocrine, and metabolic conditions, including congenital cystic adenomatoid malformation (CCAM), congenital adrenal hyperplasia, congenital heart block, fetal tachyarrhythmias, inborn errors of metabolism, fetal thyroid disorders, and polyhydramnios. To date, the majority of pharmacotherapies for fetal anomalies have been evaluated only in retrospective, uncontrolled studies. The way forward will be with an evidence-based approach to prenatal pharmacological interventions. PMID:21638296

  9. Update on the management of anorectal malformations.

    PubMed

    Bischoff, Andrea; Levitt, Marc A; Peña, Alberto

    2013-09-01

    Thirty-three years ago, on 10 August 1980, in Mexico City, the first patient with an anorectal malformation was operated on using the posterior sagittal approach. At that time it was not obvious that we were actually opening a "Pandora's box" that continues to give many positive surprises, a few disappointments, and the constant hope that each day we can learn more about how to improve the quality of life of children born with all different types of anorectal malformations. In November 2012, patient number 3000 in our database was operated in the city of Cochabamba, Bolivia; during one of our International Courses of Anorectal Malformations and Colorectal Problems in Children. The goal of this article is to give a brief update on the current management of patients with anorectal malformation, based on the multiple lessons learned during this period. PMID:23913263

  10. Revision surgery for Chiari malformation decompression.

    PubMed

    Mazzola, Catherine A; Fried, Arno H

    2003-09-15

    Chiari malformations comprise four different hindbrain anomalies originally described by Hans Chiari, a professor of pathology at the German University in Prague. There are four basic Chiari malformations. The reasons for revision of Chiari malformation decompression may be for conservative or inadequate initial decompression or the development of postoperative complications. Another reason involves cases of both hindbrain herniation and syringomyelia in patients who have undergone adequate posterior fossa decompression without resolution of symptoms, signs, or radiological appearance of their syrinx cavity. Additionally, symptom recurrence has been reported in association with various types of dural grafts. Reoperation or revision surgery for patients with Chiari malformations is common and may not be due to technical error or inadequate decompression. The types of revision surgeries, their indications, and initial presentations will be reviewed. PMID:15347221

  11. Malformation and plastic surgery in childhood

    PubMed Central

    Siegert, Ralf; Magritz, Ralph

    2014-01-01

    Malformations of the head and neck show a huge variety of clinical symptoms with functional and esthetic consequences. Often times its rehabilitation requires multi-staged and multi-disciplinary procedures and concepts. These must consider eating, speech, mimic expression, hearing and “esthetics” or at least “normality”. A survey of the most common head and neck malformations and their treatment options are presented here. PMID:25587361

  12. The Microcephaly-Capillary Malformation Syndrome

    PubMed Central

    Mirzaa, Ghayda M.; Paciorkowski, Alex R.; Smyser, Christopher D.; Willing, Marcia C.; Lind, Anne C.; Dobyns, William B.

    2012-01-01

    We report on three children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first reported recently in this journal [Carter et al. (2011); Am J Med Genet A 155: 301–306]. Two of our reported patients are an affected brother and sister, suggesting this is an autosomal recessive severe congenital MIC syndrome. PMID:21815250

  13. Spontaneous arteriovenous malformations in the cervical area

    PubMed Central

    Greenberg, J.

    1970-01-01

    Four patients with spontaneous arteriovenous malformations of cervical vessels have been presented. The embryology of these vessels has been discussed in order to suggest an explanation for the apparent difference in the incidence of arteriovenous malformations involving the internal carotid artery and those involving either the vertebral or the external carotid arteries. A fifth case (S.T.) is presented as a probable iatrogenic arteriovenous fistula and is to be added to the steadily growing reports of this phenomenon. Images PMID:5431722

  14. Lymphangiosarcoma complicating extensive congenital mixed vascular malformations.

    PubMed

    Al Dhaybi, Rola; Agoumi, Mehdi; Powell, Julie; Dubois, Josée; Kokta, Victor

    2010-09-01

    Pediatric hepatic angiosarcoma is a very rare malignant vascular tumor. A few cases have shown pediatric hepatic angiosarcoma occurring on a background of preexisting vascular lesions. We report the case of a newborn girl who presented extensive limbs and upper trunk cutaneous mixed vascular malformations at birth. These malformations were associated with thrombocytopenia. Cutaneous biopsies revealed complex vascular malformations with a significant lymphatic component. Compressive body suit therapy led to regression of the limbs' cutaneous vascular malformations. At the age of 9 months, the patient presented multiple heterogeneous hepatosplenic nodules. Aggressive treatment with prednisone, vincristine, and hepatosplenic embolizations resulted in initial improvement of the hepatosplenic lesions for few months, followed by an increase of the lesions with failure of response to treatment despite adding alpha-interferon-2b to treatment. The patient died at the age of 19 months. The autopsy's pathological examination revealed a hepatic-based angiosarcoma with plurimetastatic dissemination to the spleen, lungs, peritoneum, pleura, mesenteric linings as well as the serosa of the stomach and small intestine. Multiple cutaneous and visceral complex capillaro-lymphatico-venous malformations were also identified. We hypothesize that these multiple extensive mixed vascular malformations were associated with chronic lymphedema which probably predisposed to the development of the angiosarcoma in our patient. PMID:20863270

  15. Venous Malformation: update on etiopathogenesis, diagnosis & management

    PubMed Central

    Dompmartin, Anne; Vikkula, Miikka; Boon, Laurence M

    2011-01-01

    The aim of this review was to discuss the current knowledge on etiopathogenesis, diagnosis and therapeutic management of venous malformations. Venous malformations (VMs) are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneo-mucosal venous malformation or glomuvenous malformations), combined (e.g. capillaro-venous, capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, Blue Rubber Bleb Naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of venous malformations within vascular anomalies. Those associated with pain are often responsive to Low Molecular Weight Heparin which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose–ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area. PMID:20870869

  16. Surgical management of arteriovenous malformation.

    PubMed

    Visser, Anniek; FitzJohn, Trevor; Tan, Swee T

    2011-03-01

    This article presents our experience in managing a series of consecutive patients with arteriovenous malformation (AVM) referred to our Vascular Anomalies Centre over a 14-year period. These patients were culled from our prospective Vascular Anomalies Database 1996-2010. The medical records of these patients were reviewed to supplement the data collected. Out of 1131 patients with vascular anomalies, 53 patients (22 males, 31 females) with AVM were identified. Their mean age was 29 (range: 3-88) years with 14 stage-III, 34 stage-II and five stage-I AVMs, affecting the head and neck area (n=32), lower limb (n=13), upper limb (n=7) and trunk (n=1). Eight patients with eight stage-III and 14 patients with 15 stage-II AVMs underwent definitive surgery following preoperative embolisation in 10 patients. Seventeen patients required reconstruction with free flaps (n=8) or local or regional flaps (n=9), tissue expansion (n=4), tendon recession (n=1), tendon transfer (n=1), osseo-integration (n=1) and skin grafting (n=5). Fourteen patients required a combination of reconstructive techniques. During an average follow-up of 54 (range: 10-135) months, two (8.7%) lesions recurred but were improved following surgery. One patient with life-threatening stage-III AVM underwent 'palliative' surgery following preoperative embolisation and the lesion had improved and remained stable during the 4-year follow-up period. AVM is a challenging clinical problem that requires a multidisciplinary team approach. Complete surgical excision remains the gold-standard treatment and immediate reconstruction is an integral part of definitive surgery for AVM. The heterogeneous nature of AVM requires treatment to be tailored for individual patients and the complex excision defects necessitate expertise in a variety of reconstructive techniques. Our experience shows a recurrence rate of 8.7% following definitive surgery for AVM. PMID:20663728

  17. Spectrum of urorectal septum malformation sequence.

    PubMed

    Shah, Krupa; Nayak, Shalini S; Shukla, Anju; Girisha, Katta M

    2016-05-01

    Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob-like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS. PMID:26663027

  18. Meningitis after cochlear implantation in Mondini malformation.

    PubMed

    Page, E L; Eby, T L

    1997-01-01

    Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth. PMID:9018266

  19. Sex hormone exposure during pregnancy and malformations.

    PubMed

    Briggs, M H; Briggs, M

    1979-01-01

    This general review of the effects of exposure to sex hormones during pregnancy and subsequent fetal malformation presents summaries of animal studies, develops the data indicating virilization and feminization in humans, documents chromosome abnormalities, and presents data on the connection of steroid exposure in utero and somatic malformations. Fetal exposure can occur 3 different ways, through hormonal pregnancy test, via obstetrical use of hormones, or because of continued maternal use of oral contraceptives after conception. In the latter case, an ongoing prospective study indicates that accidental ingestion of oral contraceptives after conception is not harmful to the fetus if taken during early pregnancy. Tables present summaries of numerous large surveys and retrospective studies linking particular sex hormones (exogenous) to particular fetal malformations including neural tube defects and other constellations of developmental problems. The question of exogenous hormone effects on the personality of infants who were exposed in utero is addressed. PMID:400321

  20. Anorectal Malformation: Paediatric Problem Presenting in Adult.

    PubMed

    Chavan, Rahulkumar N; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  1. Anorectal Malformation: Paediatric Problem Presenting in Adult

    PubMed Central

    Chavan, Rahulkumar N.; Chikkala, Bhargav; Das, Cinjini; Biswas, Somak; Sarkar, Diptendra Kumar; Pandey, Sushil Kumar

    2015-01-01

    This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM). So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP) anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly's score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation. PMID:26539301

  2. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    SciTech Connect

    Cornelis, F.; Neuville, A.; Labreze, C.; Kind, M.; Bui, B.; Midy, D.; Palussiere, J.; Grenier, N.

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  3. Retroperitoneal vascular malformation mimicking incarcerated inguinal hernia.

    PubMed

    Dubey, Indu Bhushan; Sharma, Anuj; Singh, Ajay Kumar; Mohanty, Debajyoti

    2011-01-01

    A 30-year-old man presented to the Department of Surgery with a painful groin swelling on right side. Exploration revealed a reddish-blue hemangiomatous mass in the scrotum extending through inguinal canal into the retroperitoneum. On further dissection swelling was found to be originating from right external iliac vein. The swelling was excised after ligating all vascular connections. The histopathological examination of excised mass confirmed the diagnosis of venous variety of vascular malformation. This is the first reported case of vascular malformation arising from retroperitoneum and extending into inguinoscrotal region, presenting as incarcerated inguinal hernia. PMID:21633582

  4. Congenital Malformations Leading to Paradoxical Embolism.

    PubMed

    Bruckheimer, Elchanan

    2016-05-01

    The absolute separation of the right and left circulations and the filtration of blood by the pulmonary circulation are essential to prevent the passage of thrombotic material from the venous system into the systemic arterial circulation. Any breach of the intracardiac septae or circumvention of the pulmonary capillary network may cause a paradoxical embolus. The most common causes are atrial septal defects and pulmonary arteriovenous malformations. This article discusses unusual connections and pathways related to congenital malformations. Although anticoagulation is necessary to prevent paradoxical emboli, the hematologic disturbances and the most appropriate therapy in these patients warrant further investigation. PMID:27150173

  5. Mayer-Rokitansky syndrome and anorectal malformation.

    PubMed

    Patankar, Shreeprasad P; Kalrao, Vijay; Patankar, Shilpa S

    2004-12-01

    Mayer Rokitansky Kuster Houser syndrome (MRKH syndrome) is characterized by Mullerian duct structures agenesis, vaginal atresia being the commonest variant. It can be associated with renal, skeletal, spine and other malformations. Patient with Mayer Rokitansky syndrome has a varied presentation from newborn period to adolescence. Thorough investigations are required for classification of the syndrome and diagnosis of associated anomalies. The MRKH syndrome patient may require complex vaginal reconstructive surgery and a detailed counseling about the potentials of menstruation and fertility. Here we are presenting a patient having association of anorectal malformation, Mullerian duct agenesis and renal anomaly. PMID:15630325

  6. Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

    EPA Science Inventory

    The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

  7. [Lymphatic malformations in the head and neck area].

    PubMed

    Wiegand, S; Werner, J A

    2016-02-01

    Lymphatic malformations are congenital malformations of the lymphatic system. They are mainly located in the head and neck area, and grow proportional to the patients' body growth. Depending on the morphology, it can be distinguished between macrocystic, microcystic and mixed lymphatic malformations. Due to their infiltrative growth, microcystic lymphatic malformations are particularly difficult to treat. Therapeutic approaches include conventional surgical resection, laser therapy, sclerotherapy and systemic drug therapies. PMID:26820157

  8. Acquired pulmonary arteriovenous malformation secondary to hydatid cyst operation.

    PubMed

    Gezer, S; Turut, H; Oz, G; Demirag, F; Tastepe, I

    2007-10-01

    Pulmonary arteriovenous malformations are abnormal communications between pulmonary arteries and pulmonary veins. The majority of the cases are congenital in origin, and acquired pulmonary arteriovenous malformations are very rare. We present a case here, which - to the best of our knowledge - is the first acquired pulmonary arteriovenous malformation secondary to a hydatid cyst operation in the literature, and we discuss the etiology, clinical presentation, diagnostic modalities and treatment of acquired pulmonary arteriovenous malformations. PMID:17902072

  9. Coexistent arteriovenous malformation and hippocampal sclerosis.

    PubMed

    Prayson, Richard A; O'Toole, Elizabeth E

    2016-06-01

    Cavernous angiomas or cavernomas have been occasionally described in patients presenting with medically intractable epilepsy. Reports of cavernomas associated with a second pathology potentially causative of seizures have rarely been documented; most commonly, the second pathology is focal cortical dysplasia or less frequently, hippocampal sclerosis. To our knowledge, cases of arteriovenous malformation arising in this clinical setting and associated with hippocampal sclerosis have not been previously described. We report a 56-year-old woman who initially presented at age 24years with staring spells. Imaging studies revealed an arteriovenous malformation in the right parietal lobe. At age 51years, she represented with signs and symptoms related to a hemorrhage from the malformation. The patient underwent Gamma Knife radiosurgery (Elekta AB, Stockholm, Sweden) of the lesion. She subsequently developed seizures, refractory to medical management. MRI studies showed atrophy in the right hippocampus. She underwent resection of the right parietal lobe and hippocampus. Histopathologic examination of the right parietal lesion revealed an arteriovenous malformation marked by focally prominent vascular sclerosis, calcification and adjacent hemosiderin deposition. The hippocampus was marked by prominent neuronal loss and gliosis in the CA1 region, consistent with CA1 sclerosis or hippocampal sclerosis International League Against Epilepsy type 2. PMID:26899356

  10. Genetic basis of congenital cardiovascular malformations

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Cardiovascular malformations are a singularly important class of birth defects and due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the la...

  11. Genetics Home Reference: cerebral cavernous malformation

    MedlinePlus

    ... R, Awad IA, Ginsberg MH. Cerebral cavernous malformations proteins inhibit Rho kinase to stabilize vascular integrity. J Exp Med. 2010 Apr 12;207(4):881-96. doi: 10.1084/jem.20091258. Epub 2010 Mar 22. Citation on ... CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous ...

  12. Congenital vascular malformations in scintigraphic evaluation

    PubMed Central

    Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

    2014-01-01

    Summary Background Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. Material/Methods A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. Conclusions People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression. PMID:24567769

  13. Genetic animal models of malformations of cortical development and epilepsy.

    PubMed

    Wong, Michael; Roper, Steven N

    2016-02-15

    Malformations of cortical development constitute a variety of pathological brain abnormalities that commonly cause severe, medically-refractory epilepsy, including focal lesions, such as focal cortical dysplasia, heterotopias, and tubers of tuberous sclerosis complex, and diffuse malformations, such as lissencephaly. Although some cortical malformations result from environmental insults during cortical development in utero, genetic factors are increasingly recognized as primary pathogenic factors across the entire spectrum of malformations. Genes implicated in causing different cortical malformations are involved in a variety of physiological functions, but many are focused on regulation of cell proliferation, differentiation, and neuronal migration. Advances in molecular genetic methods have allowed the engineering of increasingly sophisticated animal models of cortical malformations and associated epilepsy. These animal models have identified some common mechanistic themes shared by a number of different cortical malformations, but also revealed the diversity and complexity of cellular and molecular mechanisms that lead to the development of the pathological lesions and resulting epileptogenesis. PMID:25911067

  14. RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation

    PubMed Central

    Flore, Leigh Anne; Leon, Eyby; Maher, Tom A.; Milunsky, Jeff M.

    2012-01-01

    Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

  15. GI-Associated Hemangiomas and Vascular Malformations

    PubMed Central

    Yoo, Stephen

    2011-01-01

    Hemangiomas and vascular malformations of the gastrointestinal tract, rare clinical entities, present as overt or occult bleeding. They can be distributed throughout the intestinal digestive system, or present as a singular cavernous hemangioma or malformation, which is often located in the rectosigmoid region. Misdiagnosis is common despite characteristic radiographic features such as radiolucent phleboliths on plain film imaging and a purplish nodule on endoscopy. Adjunctive imaging such as computed tomography and magnetic resonance imaging are suggested as there is potential for local invasion. Endorectal ultrasound with Doppler has also been found to be useful in some instances. Surgical resection is the mainstay of treatment, with an emphasis on sphincter preservation. Nonsurgical endoscopic treatment with banding and sclerotherapy has been reported with success, especially in instances where an extensive resection is not feasible. PMID:22942801

  16. Animal Models in Studying Cerebral Arteriovenous Malformation

    PubMed Central

    Xu, Ming; Xu, Hongzhi; Qin, Zhiyong

    2015-01-01

    Brain arteriovenous malformation (AVM) is an important cause of hemorrhagic stroke. The etiology is largely unknown and the therapeutics are controversial. A review of AVM-associated animal models may be helpful in order to understand the up-to-date knowledge and promote further research about the disease. We searched PubMed till December 31, 2014, with the term “arteriovenous malformation,” limiting results to animals and English language. Publications that described creations of AVM animal models or investigated AVM-related mechanisms and treatments using these models were reviewed. More than 100 articles fulfilling our inclusion criteria were identified, and from them eight different types of the original models were summarized. The backgrounds and procedures of these models, their applications, and research findings were demonstrated. Animal models are useful in studying the pathogenesis of AVM formation, growth, and rupture, as well as in developing and testing new treatments. Creations of preferable models are expected. PMID:26649296

  17. FTO variant associated with malformation syndrome.

    PubMed

    Rohena, Luis; Lawson, Michelle; Guzman, Edwin; Ganapathi, Mythily; Cho, Megan T; Haverfield, Eden; Anyane-Yeboa, Kwame

    2016-04-01

    Common FTO variants are associated with obesity. However, it has recently been shown that homozygous FTO c.947G>A variant, which predicts p.R316Q, and c.956C>T, which predicts p.S319F, are associated with a malformation syndrome inherited in an autosomal recessive pattern. We present a similar homozygous FTO c.965G>A variant that predicts p.R322Q, associated with a lethal malformation syndrome in a consanguineous Yemeni family. Functional studies showed that the p.R316Q, p.S219F, and p.R322Q variants render the FTO protein inactive. We further expand on the phenotype of homozygous FTO loss-of-function mutations to include eye abnormalities, gingival overgrowth, craniosynostosis, and cutaneous photosensitivity. PMID:26697951

  18. Statins and congenital malformations: cohort study

    PubMed Central

    Hernandez-Diaz, Sonia; Fischer, Michael A; Seely, Ellen W; Ecker, Jeffrey L; Franklin, Jessica M; Desai, Rishi J; Allen-Coleman, Cora; Mogun, Helen; Avorn, Jerry; Huybrechts, Krista F

    2015-01-01

    Objective To examine the teratogenic potential of statins. Design Cohort study. Setting United States. Participants A cohort of 886 996 completed pregnancies linked to liveborn infants of women enrolled in Medicaid from 2000 to 2007. Methods We examined the risk of major congenital malformations and organ specific malformations in offspring associated with maternal use of a statin in the first trimester. Propensity score based methods were used to control for potential confounders, including maternal demographic characteristics, obstetric and medical conditions, and use of other drugs. Results 1152 (0.13%) women used a statin during the first trimester. In unadjusted analyses, the prevalence of malformations in the offspring of these women was 6.34% compared with 3.55% in those of women who did not use a statin in the first trimester (relative risk 1.79, 95% confidence interval 1.43 to 2.23). Controlling for confounders, particularly pre-existing diabetes, accounted for this increase in risk (1.07, 0.85 to 1.37). There were also no statistically significant increases in any of the organ specific malformations assessed after accounting for confounders. Results were similar across a range of sensitivity analyses. Conclusions Our analysis did not find a significant teratogenic effect from maternal use of statins in the first trimester. However, these findings need to be replicated in other large studies, and the long term effects of in utero exposure to statins needs to be assessed, before use of statins in pregnancy can be considered safe. PMID:25784688

  19. Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.

    PubMed

    Abdel Razek, Ahmed Abdel Khalek; Castillo, Mauricio

    2016-01-01

    We aim to review the magnetic resonance imaging appearance of malformations of midbrain and hindbrain. These can be classified as predominantly cerebellar malformations, combined cerebellar and brain stem malformations, and predominantly brain stem malformations. The diagnostic criteria for the majority of these morphological malformations are based on neuroimaging findings. The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, vanishing cerebellum, and cerebellar cleft. Cerebellar dysplasias are seen in Chudley-McCullough syndrome, associated with LAMA1 mutations and GPR56 mutations; Lhermitte-Duclos disease; and focal cerebellar dysplasias. Cerebellar hyperplasias are seen in megalencephaly-related syndromes and hemimegalencephaly with ipsilateral cerebellomegaly. Cerebellar and brain stem malformations include tubulinopathies, Joubert syndrome, cobblestone malformations, pontocerebellar hypoplasias, and congenital disorders of glycosylation type Ia. Predominantly brain stem malformations include congenital innervation dysgenesis syndrome, pontine tegmental cap dysplasia, diencephalic-mesencephalic junction dysplasia, disconnection syndrome, and pontine clefts. PMID:26599961

  20. Neuroembryology and brain malformations: an overview.

    PubMed

    Sarnat, Harvey B; Flores-Sarnat, Laura

    2013-01-01

    Modern neuroembryology integrates descriptive morphogenesis with more recent insight into molecular genetic programing and data enabled by cell-specific tissue markers that further define histogenesis. Maturation of individual neurons involves the development of energy pumps to maintain membrane excitability, ion channels, and membrane receptors. Most malformations of the nervous system are best understood in the context of aberrations of normal developmental processes that result in abnormal structure and function. Early malformations usually are disorders of genetic expression along gradients of the three axes of the neural tube, defective segmentation, or mixed lineages of individual cells. Later disorders mainly involve cellular migrations, axonal pathfinding, synaptogenesis, and myelination. Advances in neuroimaging now enable the diagnosis of many malformations in utero, at birth, or in early infancy in the living patient by abnormal macroscopic form of the brain. These images are complimented by modern neuropathological methods that disclose microscopic, immunocytochemical, and subcellular details beyond the resolution of MRI. Correlations may be made of both normal and abnormal ontogenesis with clinical neurological and EEG maturation in the preterm or term neonate for a better understanding of perinatal neurological disease. Precision in terminology is a key to scientific communication. PMID:23622157

  1. Malformations of cortical development and epilepsy.

    PubMed

    Leventer, Richard J; Guerrini, Renzo; Dobyns, William B

    2008-01-01

    Malformations of cortical development (MCDs) are macroscopic or microscopic abnormalities of the cerebral cortex that arise as a consequence of an interruption to the normal steps of formation of the cortical plate. The human cortex develops its basic structure during the first two trimesters of pregnancy as a series of overlapping steps, beginning with proliferation and differentiation of neurons, which then migrate before finally organizing themselves in the developing cortex. Abnormalities at any of these stages, be they environmental or genetic in origin, may cause disruption of neuronal circuitry and predispose to a variety of clinical consequences, the most common of which is epileptic seizures. A large number of MCDs have now been described, each with characteristic pathological, clinical, and imaging features. The causes of many of these MCDs have been determined through the study of affected individuals, with many MCDs now established as being secondary to mutations in cortical development genes. This review will highlight the best-known of the human cortical malformations associated with epilepsy. The pathological, clinical, imaging, and etiologic features of each MCD will be summarized, with representative magnetic resonance imaging (MRI) images shown for each MCD. The malformations tuberous sclerosis, focal cortical dysplasia, hemimegalencephaly, classical lissencephaly, subcortical band heterotopia, periventricular nodular heterotopia, polymicrogyria, and schizencephaly will be presented. PMID:18472484

  2. Chiari I malformations: clinical and radiologic reappraisal.

    PubMed

    Elster, A D; Chen, M Y

    1992-05-01

    Clinical findings and magnetic resonance (MR) images in 68 patients with Chiari I malformations were retrospectively analyzed to identify those radiologic features that correlated best with clinical symptoms. A statistically significant (P = .03) female predominance of the malformation was observed, with a female: male ratio of approximately 3:2. Associated skeletal anomalies were seen in 24% of patients. Syringomyelia was detected in 40% of patients, most commonly between the C-4 and C-6 levels. Of the 25 patients who presented with spinal symptoms, 23 (92%) proved to have a syrinx at MR imaging. When the syrinx extended into the medulla (n = 3), however, brain stem symptoms predominated. Patients with objective brain stem or cerebellar signs had the largest mean tonsillar herniations. Patients with tonsillar herniations greater than 12 mm were invariably symptomatic, but approximately 30% of patients with tonsils herniating 5-10 mm below the foramen magnum were asymptomatic at MR imaging. "Incidental" Chiari I malformations are thus much more common than previously recognized, and careful clinical assessment remains the cornerstone for proper diagnosis and management. PMID:1561334

  3. Combined Lymphedema and Capillary Malformation of the Lower Extremity

    PubMed Central

    Maclellan, Reid A.; Chaudry, Gulraiz

    2016-01-01

    Background: Primary lymphedema and capillary malformation are independent vascular malformations that can cause overgrowth of the lower extremity. We report a series of patients who had both types of malformations affecting the same leg. The condition is unique but may be confused with other types of vascular malformation overgrowth conditions (eg, Klippel–Trenaunay and Parkes Weber). Methods: Our Vascular Anomalies Center and Lymphedema Program databases were searched for patients with both capillary malformation and lymphedema. Diagnosis of lymphedema–capillary malformation was made by history, physical examination, and imaging studies. Because lymphedema–capillary malformation has phenotypical overlap with other conditions, only patients who had imaging confirming their diagnosis were included in the analysis. Clinical and radiological features, morbidity, and treatment were recorded. Results: Eight patients (4 females and 4 males) had confirmed lymphedema–capillary malformation. Referring diagnosis was Klippel–Trenaunay syndrome (n = 4), diffuse capillary malformation with overgrowth (n = 3), or lymphatic malformation (n = 1). The condition was unilateral (n = 6) or bilateral (n = 2). Morbidity included infection (n = 6), difficulty fitting clothes (n = 6), bleeding or leaking vesicles (n = 5), leg length discrepancy (n = 4), and difficulty ambulating (n = 3). All patients were managed with compression regimens. Operative management was liposuction (n = 3), treatment of phlebectatic veins (n = 3), staged skin/subcutaneous excision (n = 1), and/or epiphysiodesis (n = 1). Conclusions: Lymphedema and capillary malformation can occur together in the same extremity. Both conditions independently cause limb overgrowth primarily because of subcutaneous adipose deposition. Compression garments and suction-assisted lipectomy can improve the condition. Lymphedema–capillary malformation should not be confused with other vascular malformation overgrowth

  4. Dandy-Walker Malformation Presenting with Psychological Manifestations.

    PubMed

    Rohanachandra, Yasodha Maheshi; Dahanayake, Dulangi Maneksha Amerasinghe; Wijetunge, Swarna

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

  5. Dandy-Walker malformation in Ellis-van Creveld syndrome.

    PubMed

    Zangwill, K M; Boal, D K; Ladda, R L

    1988-09-01

    We report on 2 Old Order Amish patients with Ellis-van Creveld (EvC) syndrome and the Dandy-Walker malformation; a similar case is noted in the literature. Pedigree analysis of our patients documents extensive inbreeding in successive generations. Considering the rarity of EvC syndrome and Dandy-Walker malformation as isolated malformations, the appearance of both in our 2 patients plus the patient in the literature suggests that Dandy-Walker malformation may be a manifestation in the EvC syndrome. However, in this isolate the coincidental occurrence of 2 rare recessive traits cannot be excluded. PMID:3223493

  6. Neuro-ophthalmology of type 1 Chiari malformation

    PubMed Central

    Shaikh, Aasef G.; Ghasia, Fatema F.

    2016-01-01

    Chiari malformation is a congenital deformity leading to herniation of cerebellar tonsils. Headache is a typical symptom of this condition, but patients with Chiari malformation often present with double vision and vertigo. Examination of eye movements in such patients often reveals nystagmus and strabismus. Eye movement deficits in the context of typical symptomatic presentation are critical clinical markers for the diagnosis of Chiari malformation. We will review eye movement deficits that seen in patients with type 1 Chiari malformation. We will then discuss the underlying pathophysiology and therapeutic options for such deficits. PMID:26843890

  7. Malformations Among the X-Linked Intellectual Disability Syndromes

    PubMed Central

    Stevenson, Roger E.; Schwartz, Charles E.; Rogers, R. Curtis

    2013-01-01

    Malformations are significant contributions to childhood mortality and disability. Their co-occurrence with intellectual disability may compound the health burden, requiring additional evaluation and management measures. Overall, malformations of greater or lesser severity occur in at least some cases of almost half of the 153 XLID syndromes. Genitourinary abnormalities are most common, but tend to contribute little or no health burden and occur in only a minority of cases of a given XLID syndrome. Some malformations (e.g., lissencephaly, hydranencephaly, long bone deficiency, renal agenesis/dysplasia) are not amenable to medical or surgical intervention; others (e.g., hydrocephaly, facial clefting, cardiac malformations, hypospadias) may be substantially corrected. PMID:24166814

  8. Opercular malformations: clinical and MRI features in 11 children.

    PubMed

    Rolland, Y; Adamsbaum, C; Sellier, N; Robain, O; Ponsot, G; Kalifa, G

    1995-11-01

    Opercular malformations are rare and complex brain malformations for which only very fragmented neuropathological descriptions have been reported. They are related to an abnormal development of both sylvian fissure and frontoparietal operculum. We report a retrospective clinical and MRI study of 11 patients presenting with opercular malformations. A congenital pseudobulbar syndrome was observed in six cases, various motor disorders in seven cases, mental retardation in six cases and epilepsy in four cases. The purpose of this study is to evaluate the main features of opercular malformations in children and to try to characterise this entity on the basis of its clinical features and MRI pattern. PMID:8577527

  9. Dandy-Walker Malformation Presenting with Psychological Manifestations

    PubMed Central

    Dahanayake, Dulangi Maneksha Amerasinghe

    2016-01-01

    Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment. PMID:27493822

  10. Malformations of the tooth root in humans.

    PubMed

    Luder, Hans U

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  11. Malformations of the tooth root in humans

    PubMed Central

    Luder, Hans U.

    2015-01-01

    The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS) which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus, even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on root formation

  12. Laser treatment of oral vascular malformations

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Gaimari, G.; Mohsen, M.; Tenore, G.; Palaia, G.

    2014-01-01

    Oral Vascular Malformations (OVM) are congenital anomalies characterized by morph-structural and/or functional changes of nature in severity and extension. OVM can affect any type of vessels arterial, venous or lymphatic and any capillary or anatomical. They are divided into two categories: low and high flow. In this study were treated 40 patients with OVM with a range size from 2 mm to 44 mm; they were subjected to clinical examination supported by Colour-Doppler Ultrasound instrumental examination and only for doubt cases the Magnetic Resonance Imaging (MRI) was prescribed. Only low flow venous and capillary malformations were treated by GaAlAs laser (Wiser®, Lambda, Brindole,Italy, 980nm) and KTP laser (SmartLite®, DEKA, Florence, Italy, 532nm) with two different techniques: the Transmucosal Thermophotocoagulation (TMT) and the Intralesional Photocoagulation (ILP). These techniques permitted a good control of haemostasis, avoiding bleeding both during surgery and in the postoperative. It is obtained an excellent and good healing respectively in 10% and 60% of cases, a moderate and poor resolution respectively in 22.5% and 7.5% of cases. A clear diagnosis allowed the management of Venous malformations (VM) by laser devices with wavelengths highly absorbed in haemoglobin in safety and efficacy and according to the principles of minimal invasive surgery. The aim of this study was to verify if the laser is effective in the treatment of OVM for the purpose of the clinical findings and the postoperative course. The Authors concluded that the laser can be considered the "gold standard" for treating OVM.

  13. Congenital malformation and maternal occupational exposure to glycol ethers. Occupational Exposure and Congenital Malformations Working Group.

    PubMed

    Cordier, S; Bergeret, A; Goujard, J; Ha, M C; Aymé, S; Bianchi, F; Calzolari, E; De Walle, H E; Knill-Jones, R; Candela, S; Dale, I; Dananché, B; de Vigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-07-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during pregnancy as part of a multicenter case-control study, conducted in six regions in Europe. The study comprised 984 cases of major congenital malformations and 1,134 controls matched for place and date of birth. Interviews of the mothers provided information about occupation during pregnancy, sociodemographic variables, and other potential risk factors (medical history, tobacco, alcohol, drugs). A chemist specializing in glycol ethers evaluated exposure during pregnancy, using the job description given by the mother, without knowledge of case or control status. We classified malformations into 22 subgroups. The overall odds ratio (OR) of congenital malformation associated with glycol ether exposure was 1.44 [95% confidence interval (CI) = 1.10-1.90], after adjustment for several potential confounders. The association with exposure to glycol ethers appeared particularly strong in three subgroups: neural tube defects (OR = 1.94; 95% CI = 1.16-3.24), multiple anomalies (OR = 2.00; 95% CI = 1.24-3.23), and cleft lip (OR = 2.03; 95% CI = 1.11-3.73). In this last subgroup, risk, especially of an isolated defect, tended to increase with level of exposure. PMID:9209847

  14. [Early stage of a cloverleaf skull malformation].

    PubMed

    Fischer, G; Hori, A; Ulbrich, R; Rath, W

    1982-12-01

    Cloverleaf skull anomaly was diagnosed sonographically and in the fetogram, together with concomitant chondrodystrophy. This resulted in an indication for intentional abortion in the 29th week. Consequently, this rare form of skull monstrosity could be examined pathologico-anatomically for the first time in a very early stage of foetal development. Contrary to the widely held opinion that the reason for such hideous malformation is a hydrocephalus internus due to a deformation of the skull base, we found a practically negligible hydrocephalus, although the cloverleaf skull had already developed in a very marked manner. Hence, this case contradicts the generally adopted formal pathogenetic interpretation of cloverleaf skull monstrosity. PMID:7178767

  15. Oral vascular malformations: laser treatment and management

    NASA Astrophysics Data System (ADS)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  16. Pretreatment imaging of peripheral vascular malformations

    PubMed Central

    Johnson, Joshua B; Cogswell, Petrice M; McKusick, Michael A; Binkovitz, Larry A; Riederer, Stephen J; Young, Phillip M

    2015-01-01

    Peripheral vascular malformations (VMs) are complex and diverse vascular lesions which require individualized pretreatment planning. Pretreatment imaging using various modalities, especially magnetic resonance imaging and time-resolved magnetic resonance angiography, is a valuable tool for classifying peripheral VMs to allow proper diagnosis, demonstrate complete extent, identify the nidus, and distinguish between low-flow and high-flow dynamics that determines the treatment approach. We discuss pretreatment imaging findings in four patients with peripheral VMs and how diagnostic imaging helped guide management. PMID:25625123

  17. Spinal Arteriovenous Malformation Masquerating Zoster Sine Herpete

    PubMed Central

    Lee, Ji Young; Ok, Se Jin; Oh, Chang Keun; Park, Sun Kyung; Kim, Do Wan

    2013-01-01

    Zoster sine herpete (ZSH) is difficult to diagnosis during an acute period due to the absence of the characteristic zosteriform dermatomal rash; therefore, progression to postherpetic neuralgia is more common than typical zoster. In addition, misdiagnosis of other neuropathic pain as ZSH is common in clinical situations. Here, we report a case of spinal arteriovenous malformation that mimics ZSH. This is a rare condition; therefore, high clinical suspicion for a correct diagnosis and proper examination are not easy. However, early diagnosis and definitive treatment are essential to prevent neurologic deficit and mortality. PMID:23342212

  18. Role of Embolization for Cerebral Arteriovenous Malformations

    PubMed Central

    Ellis, Jason A.; Lavine, Sean D.

    2014-01-01

    Cerebral arteriovenous malformations (AVMs) are complex high-flow lesions that can result in devastating neurological injury when they hemorrhage. Embolization is a critical component in the management of many patients with cerebral AVMs. Embolization may be used as an independent curative therapy or more commonly in an adjuvant fashion prior to either micro- or radiosurgery. Although the treatment-related morbidity and mortality for AVMs—including that due to microsurgery, embolization, and radiosurgery—can be substantial, its natural history offers little solace. Fortunately, care by a multidisciplinary team experienced in the comprehensive management of AVMs can offer excellent results in most cases. PMID:25624978

  19. Toward postnatal reversal of ocular congenital malformations

    PubMed Central

    Sahel, José-Alain; Marazova, Katia

    2013-01-01

    Aniridia is a panocular disorder that severely affects vision in early life. Most cases are caused by dominantly inherited mutations or deletions of the PAX6 gene, which encodes a transcription factor that is essential for the development of the eye and the central nervous system. In this issue of the JCI, Gregory-Evans and colleagues demonstrate that early postnatal topical administration of an ataluren-based formulation reverses congenital malformations in the postnatal mouse eye, providing evidence that manipulation of PAX6 after birth may lead to corrective tissue remodeling. These findings offer hope that ataluren administration could be a therapeutic paradigm applicable to some major congenital eye defects. PMID:24355915

  20. Microlissencephaly: a heterogeneous malformation of cortical development.

    PubMed

    Barkovich, A J; Ferriero, D M; Barr, R M; Gressens, P; Dobyns, W B; Truwit, C L; Evrard, P

    1998-06-01

    We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The apparent discreteness of these groups suggests multiple etiologies of this malformation, although there appears to be a strong genetic component with probable autosomal recessive inheritance. Utilizing the neonatal course and neuroradiologic features of these infants allows classification of specific subsets, which may be useful to predict outcome. PMID:9706619

  1. Chiari I malformation: classification and management.

    PubMed

    Bindal, A K; Dunsker, S B; Tew, J M

    1995-12-01

    Considerable debate exists about which surgical options are best for the management of the Chiari I malformation. We present a classification system for the Chiari I malformation that improves the prediction of outcome and guides the selection of surgical treatment. Twenty-seven adult patients with Chiari I malformations were grouped on the basis of the presence of signs and symptoms of brain stem compression, syringomyelia, or both. To objectively assess changes in clinical status postoperatively, a scale was developed to quantify the signs and symptoms, which were statistically analyzed by the paired t test. Five patients were asymptomatic and underwent no treatment. Ten patients had symptoms of brain stem compression without associated syringomyelia and underwent brain stem decompression, including anterior decompression in one patient with basilar invagination; all 10 patients had significant improvement at 4-year mean follow-up visits (P < 0.0001). In 12 patients with syringomyelia, 5 were symptomatic from syringomyelia only, 6 were symptomatic from both brain stem compression and syringomyelia, and 1 was symptomatic from brain stem compression only. The median length of symptoms before presentation was longer for patients with syringomyelia than for patients without (2 yr versus 9 mo; P < 0.025); the mean follow-up was 4 years. Surgical procedures included posterior brain stem decompression in 12 patients, plugging of the obex in 7, and placement of syringosubarachnoid shunts in 7, a syringopleural shunt in 1, and fourth ventricular stents in 2. In the 12 patients with syringomyelia, symptoms from brain stem compression dramatically improved with surgical decompression (P < 0.025), whereas symptoms from syringomyelia less dramatically improved or stabilized. The slight improvement or stabilization of syrinx symptoms represents a successful result, given the documented progressive nature of syringomyelia in this group. We conclude that surgical treatment for

  2. Embryonic development and malformation of lymphatic vessels.

    PubMed

    Wilting, Jörg; Buttler, Kerstin; Rössler, Jochen; Norgall, Susanne; Schweigerer, Lothar; Weich, Herbert A; Papoutsi, Maria

    2007-01-01

    In the human, malformations of lymphatic vessels can be observed as lymphangiectasia, lymphangioma and lymphangiomatosis, with a prevalence of 1.2-2.8 per thousand. Their aetiology is unknown and a causal therapy does not exist. We investigated the origin of lymphatic endothelial cells (LECs) in avian and murine embryos, and compared the molecular profile of LECs from normal and malformed lymphatics of children. In avian embryos, Prox1+ lymphangioblasts are located in the confluence of the cranial and caudal cardinal veins, where the jugular lymph sac (JLS) forms. Cell lineage studies show that the JLS is of venous origin. In contrast, the lymphatics of the dermis are derived from mesenchymal lymphangioblasts located in the dermatomes, suggesting a dual origin of LECs in avian embryos. The same may hold true for murine embryos, where Lyve1+ LEC precursors are found in the cardinal veins, and in the mesenchyme. The mesenchymal cells express the pan-leukocyte marker CD45, indicating a cell type with lymphendothelial and leukocyte characteristics. In the human, such cells might give rise to Kaposi's sarcoma. Microarray analyses of LECs from lymphangiomas of children show a large number of regulated genes, such as VEGFR3. Our studies show that lymphvasculogenesis and lymphangiogenesis occur simultaneously in the embryo, and suggest a function for VEGFR3 in lymphangiomas. PMID:18300425

  3. Twin pregnancy in the congenital malformed uterus.

    PubMed

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity. PMID:26757792

  4. Genetic Basis of Congenital Cardiovascular Malformations

    PubMed Central

    Lalani, Seema R.; Belmont, John W.

    2014-01-01

    Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways– all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects. PMID:24793338

  5. Unusual Presentation of Cerebral Cavernous Malformation.

    PubMed

    Kim, Won-Hyung; Lim, Dong-Jun; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-09-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  6. Unusual Presentation of Cerebral Cavernous Malformation

    PubMed Central

    Kim, Won-Hyung; Choi, Jong-Il; Ha, Sung-Kon; Kim, Sang-Dae; Kim, Se-Hoon

    2015-01-01

    Cerebral cavernous malformations (CMs) are vascular malformations of the central nervous system, which can be detected in the absence of any clinical symptoms. Nodules and cysts with mixed signal intensity and a peripheral hemosiderin rim are considered brain magnetic resonance imaging (MRI) findings typical of CMs. A 48-year-old man was admitted to our hospital because of abnormal MRI findings without significant neurological symptoms. A cyst with an internal fluid-fluid level was found in the left basal ganglia on the initial brain MRI. We decided to observe the natural course of the asymptomatic lesion with serial MRI follow-up. On MRI at the 5-month follow-up, the cystic mass was enlarged and showed findings consistent with those of cystic CM. Surgical resection was performed and the pathological diagnosis was CM. Our experience suggests that the initial presentation of a CM can be a pure cyst and neurosurgeons should consider the likelihood of CMs in cases of cystic cerebral lesions with intracystic hemorrhage. PMID:26523262

  7. Combined neuroradiological and neurosurgical treatment of intracerebral arteriovenous malformations.

    PubMed

    Adelt, D; Brückmann, H; Krenkel, W; Hacke, W; Zeumer, H

    1988-07-01

    Four patients with intracerebral vascular malformations underwent preoperative butylcyanoacrylate embolization via a calibrated leak catheter, in order to reduce the risks of surgery alone. In three cases the malformation was removed without causing neurological deficits. One patient died later from recurrent bleeding. PMID:3171616

  8. Congenital malformations in Japanese macaques (Macaca fuscata) at Takasakiyama.

    PubMed

    Sugiyama, Yukimaru; Kurita, Hiroyuki; Matsui, Takeshi; Kimoto, Satoshi; Egawa, Junko

    2014-04-01

    From the late 1960s to the early 1970s, many congenitally malformed infants were born into provisioned Japanese macaque troops. Although the exact cause of this problem was not determined, the occurrence of malformations decreased thereafter. We examined possible factors such as total population size, number of adult females, birth rate, and volume of provisioned food. Agrichemicals attached to provisioned food are suspected as the main cause, as other factors were found to have no influence. Many more malformations were seen in males compared with females, in feet compared with hands, and in the fourth compared with other digits. We confirmed that the frequency of congenital malformation was high during the 1960s through to the mid-1970s when increased levels of provisioned food were given and that the incidence of congenital malformations was also elevated among wild macaques during this time. PMID:24474604

  9. Associated malformations in patients with limb reduction deficiencies.

    PubMed

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

    2010-01-01

    Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence

  10. Craniofacial malformation among endemic cretins in Ecuador.

    PubMed

    Israel, H; Johnson, G F; Fierro-Benitez, R

    1983-01-01

    Nearly 6% of the inhabitants of two villages in Ecuador are deaf-mute and mentally retarded cretins. These communities are situated in the Andean highlands where environmental and dietary stores of iodine are extremely scarce. Endemic goiter and cretinism are widespread, and 10% of the cretins are additionally burdened with dwarfism and facial dysmorphia. Those with obvious involvement of the skeletal system were selected in order to study the extent of craniofacial malformation. Their appearance is characterized by midface hypoplasia, a broad nose with a depressed bridge, and a conspicuous circumoral prominence. Radiographic evaluation demonstrates a vertical displacement of the cranial base with an associated upward tilt of the midface. The flattened frontal bone, reduced frontal sinus pneumatization, and diminutive nasal bones collectively create a backward sloping face. The defect in the craniofacial skeleton of these Ecuadorian cretins is characteristic, and it readily sets them apart from the dysmorphism of those cretins with myxedema. PMID:6874895

  11. CT of thrombosed arteriovenous malformations in children

    SciTech Connect

    Mitnick, J.S.; Pinto, R.S.; Lin, J.P.; Rose, H.; Lieberman, A.

    1984-02-01

    Thrombosed arteriovenous malformations (AVMs) in children are rare lesions that may present with headaches or a seizure disorder. Thirteen patients (4 months to 21 years of age) with this lesion were examined with computed tomography (CT). In 11 patients surgical confirmation was obtained, and the other two patients were examined with follow-up CT scans. Angiography either showed an avascular mass (7/13) or was negative (6/13). CT showed a lobulated lesion (8/13), peripheral location (11/13), and minimal surrounding edema (8/13). All of the lesions were hyperdense prior to the administration of contrast material and all enhanced either slightly or not at all following contrast material administration. It is concluded that these characteristic CT features aid in making the diagnosis of thrombosed AVM. The major differential diagnosis is small intracerebral neoplasm.

  12. Advanced noninvasive imaging of spinal vascular malformations

    PubMed Central

    Eddleman, Christopher S.; Jeong, Hyun; Cashen, Ty A.; Walker, Matthew; Bendok, Bernard R.; Batjer, H. Hunt; Carroll, Timothy J.

    2010-01-01

    Spinal vascular malformations (SVMs) are an uncommon, heterogeneous group of vascular anomalies that can render devastating neurological consequences if they are not diagnosed and treated in a timely fashion. Imaging SVMs has always presented a formidable challenge because their clinical and imaging presentations resemble those of neoplasms, demyelination diseases, and infection. Advancements in noninvasive imaging modalities (MR and CT angiography) have increased during the last decade and have improved the ability to accurately diagnose spinal vascular anomalies. In addition, intraoperative imaging techniques have been developed that aid in the intraoperative assessment before, during, and after resection of these lesions with minimal and/or optimal use of spinal digital subtraction angiography. In this report, the authors review recent advancements in the imaging of SVMs that will likely lead to more timely diagnoses and treatment while reducing procedural risk exposure to the patients who harbor these uncommon spinal lesions. PMID:19119895

  13. Cerebral cavernous malformation proteins at a glance.

    PubMed

    Draheim, Kyle M; Fisher, Oriana S; Boggon, Titus J; Calderwood, David A

    2014-02-15

    Loss-of-function mutations in genes encoding KRIT1 (also known as CCM1), CCM2 (also known as OSM and malcavernin) or PDCD10 (also known as CCM3) cause cerebral cavernous malformations (CCMs). These abnormalities are characterized by dilated leaky blood vessels, especially in the neurovasculature, that result in increased risk of stroke, focal neurological defects and seizures. The three CCM proteins can exist in a trimeric complex, and each of these essential multi-domain adaptor proteins also interacts with a range of signaling, cytoskeletal and adaptor proteins, presumably accounting for their roles in a range of basic cellular processes including cell adhesion, migration, polarity and apoptosis. In this Cell Science at a Glance article and the accompanying poster, we provide an overview of current models of CCM protein function focusing on how known protein-protein interactions might contribute to cellular phenotypes and highlighting gaps in our current understanding. PMID:24481819

  14. Benign Vascular Malformation at the Ischial Tuberosity.

    PubMed

    Said, Rami; Bevelaqua, Anna-Christina

    2016-07-01

    A 31-year-old female student was referred to physical therapy with a chief complaint of proximal, posterior left thigh pain that began insidiously 12 months prior, and progressively worsened while training for a half-marathon. A mobile, soft mass was identified just inferior to the ischial tuberosity that was tender and painful to palpation, recreating the patient's chief complaint. Radiographic findings were negative for a suspected avulsion fracture at the ischial tuberosity. Therefore, the physician performed musculoskeletal ultrasonography, which revealed a superficial hypoechoic mass with vascular flow. Magnetic resonance imaging and a subsequent biopsy led to the diagnosis of a benign vascular malformation. J Orthop Sports Phys Ther 2016;46(7):607. doi:10.2519/jospt.2016.0410. PMID:27363574

  15. Multimodal device for assessment of skin malformations

    NASA Astrophysics Data System (ADS)

    Bekina, A.; Garancis, V.; Rubins, U.; Spigulis, J.; Valeine, L.; Berzina, A.

    2013-11-01

    A variety of multi-spectral imaging devices is commercially available and used for skin diagnostics and monitoring; however, an alternative cost-efficient device can provide an advanced spectral analysis of skin. A compact multimodal device for diagnosis of pigmented skin lesions was developed and tested. A polarized LED light source illuminates the skin surface at four different wavelengths - blue (450 nm), green (545 nm), red (660 nm) and infrared (940 nm). Spectra of reflected light from the 25 mm wide skin spot are imaged by a CMOS sensor. Four spectral images are obtained for mapping of the main skin chromophores. The specific chromophore distribution differences between different skin malformations were analyzed and information of subcutaneous structures was consecutively extracted.

  16. Diagnosis and management of pulmonary arteriovenous malformations

    PubMed Central

    Papagiannis, J; Apostolopoulou, S; Sarris, GE; Rammos, S

    2002-01-01

    Pulmonary arteriovenous malformation is a rare anomaly that presents in several different ways. It can present as an isolated finding, or more often in the context of hereditary haemorrhagic telangiectasia. It can also complicate palliative surgery such as the Glenn operation for complex congenital heart disease with single ventricle physiology. Its management includes transcatheter embolization, which is the preferred mode of therapy, surgery (including resection of the affected lobe, segment, or the fistula itself), or rarely, medical therapy. Complications of the disease itself and of various modes of treatment are relatively common, and patients require close surveillance for possible recurrence, or development of new fistulas. In cases related to the Glenn operation, redirection of hepatic venous flow or heart transplantation may cure the problem. PMID:22368610

  17. Neurogenic dysphagia resulting from Chiari malformations.

    PubMed

    Pollack, I F; Pang, D; Kocoshis, S; Putnam, P

    1992-05-01

    Between 1980 and 1989, 15 of 46 patients (11 children, 4 adults) who underwent suboccipital craniectomy and cervical laminectomy for symptomatic Chiari malformations presented with manifestations of neurogenic dysphagia. Each of these patients had normal swallowing function before the development of dysphagic symptoms. Dysphagia was progressive in all 15 and, in most cases, preceded the onset of other severe brain stem signs. The rate of symptom progression varied depending on the age of the patient. Whereas the six infants (all Chiari II) deteriorated rapidly after the onset of initial symptoms, the five older children (two Chiari I, three Chiari II) and four adults (all Chiari I) showed a more gradual deterioration. In 11 patients with severe dysphagia, barium video esophagograms, pharyngoesophageal motility studies, continuous esophageal pH monitoring, and appropriate scintigraphic studies were useful in defining the scope of the swallowing impairment and determining whether perioperative nasogastric or gastrostomy feedings, gastric fundoplication, and/or tracheostomy were needed to maintain adequate nutrition and avoid aspiration. These patients all had widespread dysfunction of the swallowing mechanism, with a combination of diffuse pharyngoesophageal dysmotility, cricopharyngeal achalasia, nasal regurgitation, tracheal aspiration, and gastroesophageal reflux. The pathophysiology of these swallowing impairments and their relation to the hindbrain malformation is discussed. Postoperative outcome with regard to swallowing function correlated with the severity of preoperative symptoms. The four patients with mild dysphagia showed rapid improvement in swallowing function after surgery. Seven patients with more severe impairment but without other signs of severe brain stem compromise, such as central apnea or complete bilateral vocal cord paralysis, also improved, albeit more slowly. In contrast, the outcome in the four patients who developed other signs of severe

  18. Amplatzer vascular plugs in congenital cardiovascular malformations

    PubMed Central

    Barwad, Parag; Ramakrishnan, Sivasubramanian; Kothari, Shyam S; Saxena, Anita; Gupta, Saurabh K; Juneja, Rajnish; Gulati, Gurpreet Singh; Jagia, Priya; Sharma, Sanjiv

    2013-01-01

    Background: Amplatzer vascular plugs (AVPs) are devices ideally suited to close medium-to-large vascular communications. There is limited published literature regarding the utility of AVPs in congenital cardiovascular malformations (CCVMs). Aims: To describe the use of AVPs in different CCVMs and to evaluate their safety and efficacy. Materials and Methods: All patients who required an AVP for the closure of CCVM were included in this retrospective review of our catheterization laboratory data. The efficacy and safety of AVPs are reported. Results: A total of 39 AVPs were implanted in 31 patients. Thirteen (33%) were AVP type I and 23 (59%) were AVP type II. AVP type III were implanted in two patients and type IV in one patient. The major indications for their use included closure of pulmonary arteriovenous malformation (AVM) (n = 7), aortopulmonary collaterals (n = 7), closure of a patent Blalock-Taussig shunt (n = 5), systemic AVM (n = 5), coronary AVM (n = 4), patent ductus arteriosus (PDA) (n = 3), pulmonary artery aneurysms (n = 3), and venovenous collaterals (n = 2). Deployment of the AVP was done predominantly via the 5 – 7F Judkin's right coronary guide catheter. Overall 92% of the AVPs could be successfully deployed and resulted in occlusion of the target vessel in all cases, within 10 minutes. No procedure-related or access site complication occurred. Conclusions: AVPs are versatile, easy to use, and effective devices to occlude the vascular communications in a variety of settings. AVP II is especially useful in the closure of tubular structures with a high flow. PMID:24688229

  19. Congenital malformations and perinatal morbidity associated with intestinal neuronal dysplasia.

    PubMed

    Berger, S; Ziebell, P; OFFsler, M; Hofmann-von Kap-herr, S

    1998-09-01

    A close relation between different forms of dysganglionosis such as intestinal neuronal dysplasia (IND) type B and aganglionosis has been established. No systematic analysis of other malformations and diseases accompanying IND has been made as yet. Congenital malformations and perinatal morbidity were analyzed in 109 patients with IND seen at the Department of Pediatric Surgery in Mainz from 1977 to 1996. IND was associated with Hirschsprung's disease in 47 cases; 22 children with IND had other abdominal malformations, including anal atresia, rectal stenosis, sigmoidal stenosis, ileal atresia, pyloric stenosis, and esophageal atresia. A cystic bowel duplication, a choledochal cyst, and a persisting urachus were also found. Extra-abdominal malformations such as Down's syndrome, congenital diaphragmatic hernia, aortic stenosis, and malformations of vertebral bodies were seen. Twin siblings of children with IND were either healthy (n=3) or died in utero (n=1). Seventeen children with IND developed severe intra-abdominal complications during the perinatal period such as necrotizing enterocolitis (NEC), meconium ileus, or bowel perforations. NEC was frequently associated with preterm birth. Bowel perforations were seen in mature and preterm newborns with IND. Taken together, IND is found in a variety of obstructive bowel diseases. This may support the hypothesis that IND is a secondary phenomenon or that congenital atresias and stenoses of the digestive tract have a pathogenesis similar to that of intestinal innervation disturbances. IND may also be a part of complex malformation patterns since it occurs with a number of extraintestinal and non-obstructive intestinal malformations. PMID:9716673

  20. A developmental and genetic classification for midbrain-hindbrain malformations

    PubMed Central

    Millen, Kathleen J.; Dobyns, William B.

    2009-01-01

    Advances in neuroimaging, developmental biology and molecular genetics have increased the understanding of developmental disorders affecting the midbrain and hindbrain, both as isolated anomalies and as part of larger malformation syndromes. However, the understanding of these malformations and their relationships with other malformations, within the central nervous system and in the rest of the body, remains limited. A new classification system is proposed, based wherever possible, upon embryology and genetics. Proposed categories include: (i) malformations secondary to early anteroposterior and dorsoventral patterning defects, or to misspecification of mid-hindbrain germinal zones; (ii) malformations associated with later generalized developmental disorders that significantly affect the brainstem and cerebellum (and have a pathogenesis that is at least partly understood); (iii) localized brain malformations that significantly affect the brain stem and cerebellum (pathogenesis partly or largely understood, includes local proliferation, cell specification, migration and axonal guidance); and (iv) combined hypoplasia and atrophy of putative prenatal onset degenerative disorders. Pertinent embryology is discussed and the classification is justified. This classification will prove useful for both physicians who diagnose and treat patients with these disorders and for clinical scientists who wish to understand better the perturbations of developmental processes that produce them. Importantly, both the classification and its framework remain flexible enough to be easily modified when new embryologic processes are described or new malformations discovered. PMID:19933510

  1. Outcome of cochlear implantation in children with cochlear malformations.

    PubMed

    Bille, Jesper; Fink-Jensen, Vibeke; Ovesen, Therese

    2015-03-01

    The objective of the study was the evaluation of outcomes of cochlear implantation (CI) in children with cochlear malformations. A retrospective case-control study was conducted in a tertiary referral centre. The patients were children with inner ear malformation judged by high-resolution computed tomography and magnetic resonance imaging treated with uni- or bilateral CI and a follow-up period of at least 3 years. They were matched with a control group of children operated for other reasons. The patients were operated by one of two surgeons using similar techniques including a standard perimodiolar electrode in all cases. The intervention was therapeutic and rehabilitative. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). Eighteen children were diagnosed with cochlear malformations (12 % of children receiving CI). No statistical differences regarding CAP and SIR scores were found between the two groups. Only one child was diagnosed with a common cavity and performed below average. Children with auditory neuropathy performed beyond average. Children with cochlear malformations performed equally to children without malformation in the long term. Standard perimodiolar electrodes can be used despite cochlear malformations. The most important factors determining the outcome is the age of the child at the time of implantation and duration of hearing loss before CI. Awareness towards an increased risk of complications in case of inner ear malformations is recommended. PMID:24407715

  2. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    PubMed Central

    Norstedt Wikner, Birgitta

    2014-01-01

    Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs) or risk ratios (RRs) after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14). For anal atresia the RR was 1.85 (95% CI 1.00–1.85) and for choanal atresia 3.14 (95% CI 1.26–6.47). The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible. PMID:24744955

  3. Neurosurgical management of congenital malformations of the brain.

    PubMed

    Hervey-Jumper, Shawn L; Cohen-Gadol, Aaron A; Maher, Cormac O

    2011-08-01

    Congenital malformations encompass a diverse group of disorders that often present at birth, either as the result of genetic abnormalities, infection, errors of morphogenesis, or abnormalities in the intrauterine environment. Congenital disorders affecting the brain are now often diagnosed before delivery with the use of prenatal ultrasonography. Over the past several decades, there have been major advances in the understanding and management of these conditions. This review focuses on the most common cranial congenital malformations, limiting the discussion to the neurosurgically relevant aspects of arachnoid cysts, pineal cysts, Chiari malformations, and encephaloceles. PMID:21807319

  4. US and MRI features in venous vascular malformation of the abdominal wall. A case report

    PubMed Central

    Alessandrino, F.; Maira, A.; Tarantino, C.C.

    2012-01-01

    Vascular anomalies are classified as vascular tumors and vascular malformations. Venous vascular malformations are the most common type of vascular malformation. They may be isolated or multiple and they rarely affect the trunk. The authors report a rare case of isolated venous vascular malformation of the abdominal wall with an emphasis on the related MRI and ultrasound (US) features. PMID:23450707

  5. RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome.

    PubMed

    Macmurdo, Colleen F; Wooderchak-Donahue, Whitney; Bayrak-Toydemir, Pinar; Le, Jenny; Wallenstein, Matthew B; Milla, Carlos; Teng, Joyce M C; Bernstein, Jonathan A; Stevenson, David A

    2016-06-01

    Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has been reported, suggesting modifiers and somatic events. The objective of the study was to identify somatic RASA1 "second hits" from vascular malformations associated with CM-AVM syndrome, and describe phenotypic variability. Participants were examined and phenotyped. Genomic DNA was extracted from peripheral blood on all participants. Whole-exome sequencing was performed on the proband. Using Sanger sequencing, RASA1 exon 8 was PCR-amplified to track the c.1248T>G, p.Tyr416X germline variant through the family. A skin biopsy of a capillary malformation from the proband's mother was also obtained, and next-generation sequencing was performed on DNA from the affected tissue. A familial germline heterozygous novel pathogenic RASA1 variant, c.1248T>G (p.Tyr416X), was identified in the proband and her mother. The proband had capillary malformations, chylothorax, lymphedema, and overgrowth, while her affected mother had only isolated capillary malformations. Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X). These results and the extreme variable expressivity support the hypothesis that somatic "second hits" are required for the development of vascular anomalies associated with CM-AVM syndrome. In addition, the phenotypes of the affected individuals further clarify that lymphatic manifestations are also part of the phenotypic spectrum of RASA1-related disorders. © 2016 Wiley Periodicals, Inc. PMID:26969842

  6. MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    MALLEABLE INSPECTION STATION WHERE WORKERS ELIMINATE MALFORMED CASTINGS AND SEPARATED GOOD CASTINGS PRIOR TO ANNEALING. - Stockham Pipe & Fittings Company, Malleable Annealing Building, 4000 Tenth Avenue North, Birmingham, Jefferson County, AL

  7. Optic chiasmal cavernous angioma: A rare suprasellar vascular malformation

    PubMed Central

    Abou-Al-Shaar, Hussam; Bahatheq, Ayman; Takroni, Radwan; Al-Thubaiti, Ibrahim

    2016-01-01

    Background: Suprasellar cavernous malformation in the optic pathway is not commonly encountered. To date, there are only few reports present in the literature. Case Description: The authors report a rare case of suprasellar optic pathway cavernous malformation in a 33-year-old female who presented with progressive visual loss. Her imaging revealed a large heterogeneous, hyperintense, hemorrhagic right suprasellar extra-axial complex cystic structure, causing mass effect on the adjacent hypothalamus and third ventricle displacing these structures. Gross total resection of the lesion was achieved utilizing a right frontal craniotomy approach. Histopathological examination confirmed the diagnosis of suprasellar chiasmal cavernous malformation. Conclusion: Although visual pathway cavernous malformation is a rare event, it should be included in the differential diagnosis of lesions occurring suprasellarly in the visual pathway and hypothalamus. PMID:27583178

  8. Variants in CUL4B are Associated with Cerebral Malformations

    PubMed Central

    Vulto-van Silfhout, Anneke T.; Nakagawa, Tadashi; Bahi-Buisson, Nadia; Haas, Stefan A.; Hu, Hao; Bienek, Melanie; Vissers, Lisenka E.L.M.; Gilissen, Christian; Tzschach, Andreas; Busche, Andreas; Müsebeck, Jörg; Rump, Patrick; Mathijssen, Inge B.; Avela, Kristiina; Somer, Mirja; Doagu, Fatma; Philips, Anju K.; Rauch, Anita; Baumer, Alessandra; Voesenek, Krysta; Poirier, Karine; Vigneron, Jacqueline; Amram, Daniel; Odent, Sylvie; Nawara, Magdalena; Obersztyn, Ewa; Lenart, Jacek; Charzewska, Agnieszka; Lebrun, Nicolas; Fischer, Ute; Nillesen, Willy M.; Yntema, Helger G.; Järvelä, Irma; Ropers, Hans-Hilger; de Vries, Bert B.A.; Brunner, Han G.; van Bokhoven, Hans; Raymond, F. Lucy; Willemsen, Michèl A.A.P.; Chelly, Jamel; Xiong, Yue; Barkovich, A. James; Kalscheuer, Vera M.; Kleefstra, Tjitske; de Brouwer, Arjan P.M.

    2015-01-01

    Variants in cullin 4B (CUL4B) are a known cause of syndromic X-linked intellectual disability. Here, we describe an additional 25 patients from 11 families with variants in CUL4B. We identified nine different novel variants in these families and confirmed the pathogenicity of all nontruncating variants. Neuroimaging data, available for 15 patients, showed the presence of cerebral malformations in ten patients. The cerebral anomalies comprised malformations of cortical development (MCD), ventriculomegaly, and diminished white matter volume. The phenotypic heterogeneity of the cerebral malformations might result from the involvement of CUL-4B in various cellular pathways essential for normal brain development. Accordingly, we show that CUL-4B interacts with WDR62, a protein in which variants were previously identified in patients with microcephaly and a wide range of MCD. This interaction might contribute to the development of cerebral malformations in patients with variants in CUL4B. PMID:25385192

  9. Genetics Home Reference: multiple cutaneous and mucosal venous malformations

    MedlinePlus

    ... These abnormal blood vessels show a deficiency of smooth muscle cells while endothelial cells are maintained. Venous malformations cause lesions below the surface of the skin or mucous membranes, which are ...

  10. Contracted foal syndrome associated with multiple malformations in two foals.

    PubMed

    Binanti, D; Zani, D D; De Zani, D; Turci, T; Zavaglia, G; Riccaboni, P

    2014-02-01

    Congenital anomalies in horses are very rare, and contracted foal syndrome is one of the most commonly reported. This malformation is characterized by contraction of the joints of the forelimbs and/or hindlimbs. In addition, the syndrome can be characterized by vertebral column malformations, such as scoliosis or torticollis, and cranial deformity. The present report describes the radiological and necroscopical findings of multiple rare malformations in two foals. Both foals showed skeletal abnormalities and fenestration of the abdominal cavity. Other pathological findings include a interventricular septal defect in one and a unilateral hydronephrosis and partial hydroureter in the other foal. Although in this report a specific aetiology could not be provided, insecticides treatment provided during the second month of pregnancy might play a role in the pathogenesis of these malformations. PMID:23406278

  11. Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

    PubMed Central

    Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

    2006-01-01

    Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

  12. Pulmonary arteriovenous malformation in chronic thromboembolic pulmonary hypertension

    PubMed Central

    Sharma, Arun; Gulati, Gurpreet S; Parakh, Neeraj; Aggarwal, Abhinav

    2016-01-01

    Chronic thromboembolic pulmonary hypertension is a morbid condition associated with complications such as hemoptysis, right heart failure, paradoxical embolism, and even death. There is no known association of chronic thromboembolic pulmonary hypertension with pulmonary arteriovenous malformation. Possible hypothesis for this association is an increased pulmonary vascular resistance leading to the compensatory formation of pulmonary arteriovenous malformation. We present one such case presenting with hemoptysis that was managed with endovascular treatment. PMID:27413264

  13. Multiple medullary venous malformations decreasing cerebral blood flow: Case report

    SciTech Connect

    Tomura, N.; Inugami, A.; Uemura, K.; Hadeishi, H.; Yasui, N. )

    1991-02-01

    A rare case of multiple medullary venous malformations in the right cerebral hemisphere is reported. The literature review yielded only one case of multiple medullary venous malformations. Computed tomography scan showed multiple calcified lesions with linear contrast enhancement representing abnormal dilated vessels and mild atrophic change of the right cerebral hemisphere. Single-photon emission computed tomography using N-isopropyl-p-({sup 123}I) iodoamphetamine demonstrated decreased cerebral blood flow in the right cerebral hemisphere.

  14. Oral encapsulated vascular malformation: An undescribed presentation in the mouth

    PubMed Central

    Dias, Márcio-Américo; Dias, Pedro-de Souza; Martínez-Martínez, Marisol; Sena-Filho, Marcondes; de Almeida, Oslei-Paes

    2016-01-01

    Vascular lesions have been classified in two broad categories, hemangiomas and malformations. Encapsulated vascular lesions have not been reported in the oral cavity, but they were described in other sites, mainly in the orbit. Herein, we present a case of an oral encapsulated vascular lesion located in the right buccal mucosa of a 69-year-old male, including histological and immunohistochemical description and a literature review. Key words:Buccal mucosa, hemangioma, vascular malformation, oral cavity. PMID:26855712

  15. Sincipital Encephaloceles: A Study of Associated Brain Malformations

    PubMed Central

    Achar, Shashidhar Vedavyas; Dutta, Hemonta Kumar

    2016-01-01

    Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%), and corpus callosal agenesis (12 patients) was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients), hydrocephalus (7 patients), and agyria-pachygyria complex (2 patients). Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations. PMID:27313974

  16. Eye malformations in Cameroonian children: a clinical survey

    PubMed Central

    Eballé, André Omgbwa; Ellong, Augustin; Koki, Godefroy; Nanfack, Ngoune Chantal; Dohvoma, Viola Andin; Mvogo, Côme Ebana

    2012-01-01

    Summary The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital. Patients and methods We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009. Results Out of the 2254 children who were examined, 150 (6.65%) presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%), congenital cataract (10.9%), congenital glaucoma (10.9%), microphthalmos (5.03%), and congenital ptosis (3.77%). Conclusion Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management. PMID:23055685

  17. Giant cystic cerebral cavernous malformation with multiple calcification - case report.

    PubMed

    Kim, Il-Chun; Kwon, Ki-Young; Rhee, Jong-Joo; Lee, Jong-Won; Hur, Jin-Woo; Lee, Hyun-Koo

    2013-09-01

    Cerebral cavernous malformation with giant cysts is rare and literature descriptions of its clinical features are few. In this case study, the authors describe the clinical symptoms, radiological findings, and pathological diagnosis of cerebral cavernous malformations with giant cysts, reviewing the relevant literature to clearly differentiate this from other disease entities. The authors present a case of a 19-year-old male with a giant cystic cavernous malformation, who was referred to the division of neurosurgery due to right sided motor weakness (grade II/II). Imaging revealed a large homogenous cystic mass, 7.2×4.6×6 cm in size, in the left fronto-parietal lobe and basal ganglia. The mass had an intra-cystic lesion, abutting the basal portion of the mass. The initial diagnosis considered this mass a glioma or infection. A left frontal craniotomy was performed, followed by a transcortical approach to resect the mass. Total removal was accomplished without post-operative complications. An open biopsy and a histopathological exam diagnosed the mass as a giant cystic cavernous malformation. Imaging appearances of giant cavernous malformations may vary. The clinical features, radiological features, and management of giant cavernous malformations are described based on pertinent literature review. PMID:24167810

  18. Partial tetrasomy 14 associated with multiple malformations.

    PubMed

    Winberg, Johanna; Lagerstedt Robinson, Kristina; Naess, Karin; Lesko, Nicole; Wibom, Rolf; Liedén, Agne; Anderlid, Britt-Marie; Graff, Caroline; Nordenskjöld, Agneta; Nordgren, Ann; Gustavsson, Peter

    2013-06-01

    We report on an 8-year-old female patient with multiple malformations including bilateral cleft lip and palate, coloboma, and craniosynostosis. She presented with severe intellectual disability, seizures, and gastrointestinal dysfunction. Mitochondrial investigations in a muscle biopsy revealed reduced activity in complex I of the mitochondrial respiratory chain. Chromosome analysis and fluorescent in situ hybridization (FISH) studies showed an isodicentric marker chromosome 14 that was identified in all cells analyzed in peripheral blood lymphocytes and cultured fibroblasts. Parental chromosome studies were normal. To further characterize the marker chromosome and determine its origin, we performed array-based comparative genomic hybridization (CGH) and polymorphic marker analysis with quantitative fluorescent PCR (QF-PCR). The combined results from cytogenetic and array-CGH analyses showed tetrasomy 14p13q13.1 and results from the QF-PCR point to formation of the marker chromosome in the maternal meiosis. Isodicentric chromosomes involving partial 14q have previously been reported in four cases; however, this is the first patient with tetrasomy 14p13q13.1 in non-mosaic form surviving beyond infancy. PMID:23613323

  19. Gastroesophageal reflux and congenital gastrointestinal malformations.

    PubMed

    Marseglia, Lucia; Manti, Sara; D'Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-07-28

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  20. [Urinary tract abnormalities associated with anorectal malformations].

    PubMed

    Tohda, A; Hosokawa, S; Shimada, K

    1995-08-01

    Anorectal malformation (ARM) is often associated with urological problems such as congenital urogenital anomalies, recto-urinary fistula, neurogenic bladder due to vertebral anomalies and operative complications. We analyzed 57 cases of ARM and discussed about the management of associated urogenital anomalies during neonatal and infantile period. The incidence of urogenital anomalies was 85.7% in high type, 65.5% in intermediate type and 38.1% in low type. Among these urinary tract anomalies, VUR was most common and was documented in 38.6% of ARM patients. Renal dysplasia, PUJ stenosis, megaureter and urethral stenosis was also common in these patients. Renal dysfunction was documented in 5 cases (2 in high type, 2 in intermediate and 1 in low type), mainly due to VUR and renal aplasia. These results show the need for evaluation of urinary tract during the neonatal and early infantile period even in low type ARM. The management of urinary tract anomalies associated with ARM is firmly related with the management of ARM itself, and we must be closely in co-operation with pediatric surgeons. PMID:7474624

  1. Management and outcome of low anorectal malformations.

    PubMed

    Pakarinen, Mikko P; Rintala, Risto J

    2010-11-01

    Low anorectal malformation comprises about half of all anorectal anomalies. Most of the literature concerning management of anorectal anomalies is centred around the treatment and outcome of high anomalies. The management of low anomalies has been considered significantly less challenging than high anomalies. Also, the outcome of low anomalies has traditionally been considered good. However, recent more critical long-term follow-up reports show a different picture. Many patients with low anomalies suffer from long-term anorectal functional problems, especially constipation but also soiling that occurs in a significant percentage of patients. In this review, we compile the recent views on the diagnosis, surgical treatment and outcome of low anorectal anomalies. We also present an algorithm for the management of these anomalies. The emphasis on the surgical management of low anorectal anomalies is to use as minimally invasive operative methods as possible and preserve the native mechanisms of continence that usually are much better preserved than in more severe high anomalies. PMID:20845044

  2. Implications of an Incidental Pulmonary Arteriovenous Malformation

    PubMed Central

    Holden, Van K.; Shah, Nirav G.; Verceles, Avelino C.

    2016-01-01

    Introduction. Pulmonary arteriovenous malformations (PAVMs) have been associated with life-threatening complications, such as stroke and massive hemoptysis, thus posing significant morbidity if left untreated. We report a case of an incidental finding of a PAVM in a trauma patient newly recognized to have suspected hereditary hemorrhagic telangiectasia (HHT). Case Description. A 34-year-old man with a history of recurrent epistaxis presented with a sudden fall associated with seizure-like activity. Trauma imaging showed a large subdural hematoma and, incidentally, a serpiginous focus within the right upper lobe with a prominent feeding artery consistent with a PAVM. The patient was diagnosed with a simple PAVM related to possible or suspected HHT, an autosomal dominant trait with age-related penetrance. He underwent a pulmonary arteriography of the right upper and lower lobe with the use of a microcatheter system; however, the PAVM could not be visualized. Thus, he was managed medically. The patient was educated on the need for prophylactic antibiotics prior to dental procedures and surveillance imaging. Discussion. Our case highlights the importance of obtaining a complete past medical and family history in young patients with a history of recurrent epistaxis to elicit features of HHT. The diagnosis can be made clinically and directly affects family members, who would otherwise not receive appropriate screening. PMID:27027094

  3. [Stereotactically targeted radiotherapy of cerebral arteriovenous malformations].

    PubMed

    Kimmig, B; Engenhart, R; Wowra, B; Höver, K H; Marin-Grez, M; Sturm, V

    1989-09-01

    A report is given about radiotherapy in 41 patients suffering from cerebral vessel anomalies. A modified linear accelerator was used in a moving field technique with multiple pendulum planes to apply single doses between 8 and 28 Gy by means of stereotaxis into the angiographically determined target volume. The medium follow-up is 23 months. The latency of radiogenic effects is between one and two years. Radiological controls with an interval of more than 18 months after therapy are available in 17 out of 41 patients. Angiographic investigation showed complete obliterations of pathological vessels in six out of these patients and partial obliterations in six patients; five patients remained unchanged. There were no acute complications. Seven patients presented neurological deficiencies with a latency of 6 to 12 months, however, in all cases but one they regressed completely. Even taking into consideration the small number of patients and the short time of observation, a comparison with the results of other radiotherapeutical proceedings allows to draw the conclusion that the presented technique of stereotaxic convergent-beam irradiation represents a relatively simple, reliable and, in case of precise indication, efficient method for the therapy of cerebral arteriovenous malformations. PMID:2678547

  4. Stereotactic radiosurgery for intramedullary spinal arteriovenous malformations.

    PubMed

    Kalani, Maziyar A; Choudhri, Omar; Gibbs, Iris C; Soltys, Scott G; Adler, John R; Thompson, Patricia A; Tayag, Armine T; Samos, Cindy H; Chang, Steven D

    2016-07-01

    Spinal cord arteriovenous malformations (AVM) are rare lesions associated with recurrent hemorrhage and progressive ischemia. Occasionally a favorable location, size or vascular anatomy may allow management with endovascular embolization and/or microsurgical resection. For most, however, there is no good treatment option. Between 1997 and 2014, we treated 37 patients (19 females, 18 males, median age 30years) at our institution diagnosed with intramedullary spinal cord AVM (19 cervical, 12 thoracic, and six conus medullaris) with CyberKnife (Accuray, Sunnyvale, CA, USA) stereotactic radiosurgery. A history of hemorrhage was present in 50% of patients. The mean AVM volume of 2.3cc was treated with a mean marginal dose of 20.5Gy in a median of two sessions. Clinical and MRI follow-up were carried out annually, and spinal angiography was repeated at 3years. We report an overall obliteration rate of 19% without any post-treatment hemorrhagic events. In those AVM that did not undergo obliteration, significant volume reduction was noted at 3years. Although the treatment paradigm for spinal cord AVM continues to evolve, radiosurgical treatment is capable of safely obliterating or significantly shrinking most intramedullary spinal cord AVM. PMID:26869363

  5. Psychosocial adjustment and craniofacial malformations in childhood.

    PubMed

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk. PMID:3969404

  6. Gastroesophageal reflux and congenital gastrointestinal malformations

    PubMed Central

    Marseglia, Lucia; Manti, Sara; D’Angelo, Gabriella; Gitto, Eloisa; Salpietro, Carmelo; Centorrino, Antonio; Scalfari, Gianfranco; Santoro, Giuseppe; Impellizzeri, Pietro; Romeo, Carmelo

    2015-01-01

    Although the outcome of newborns with surgical congenital diseases (e.g., diaphragmatic hernia; esophageal atresia; omphalocele; gastroschisis) has improved rapidly with recent advances in perinatal intensive care and surgery, infant survivors often require intensive treatment after birth, have prolonged hospitalizations, and, after discharge, may have long-term sequelae including gastro-intestinal comorbidities, above all, gastroesophageal reflux (GER). This condition involves the involuntary retrograde passage of gastric contents into the esophagus, with or without regurgitation or vomiting. It is a well-recognized condition, typical of infants, with an incidence of 85%, which usually resolves after physiological maturation of the lower esophageal sphincter and lengthening of the intra-abdominal esophagus, in the first few months after birth. Although the exact cause of abnormal esophageal function in congenital defects is not clearly understood, it has been hypothesized that common (increased intra-abdominal pressure after closure of the abdominal defect) and/or specific (e.g., motility disturbance of the upper gastrointestinal tract, damage of esophageal peristaltic pump) pathological mechanisms may play a role in the etiology of GER in patients with birth defects. Improvement of knowledge could positively impact the long-term prognosis of patients with surgical congenital diseases. The present manuscript provides a literature review focused on pathological and clinical characteristics of GER in patients who have undergone surgical treatment for congenital abdominal malformations. PMID:26229394

  7. Arteriovenous malformation of the vestibulocochlear nerve

    PubMed Central

    Tucker, Adam; Tsuji, Masao; Yamada, Yoshitaka; Hanabusa, Kenichiro; Ukita, Tohru; Miyake, Hiroji; Ohmura, Takehisa

    2015-01-01

    We describe a rare case of an arteriovenous malformation (AVM) embedded in the vestibulocochlear nerve presenting with subarachnoid hemorrhage (SAH) treated by microsurgical elimination of the main feeding artery and partial nidus volume reduction with no permanent deficits. This 70-year-old woman was incidentally diagnosed 4 years previously with two small unruptured tandem aneurysms (ANs) on the right anterior inferior cerebral artery feeding a small right cerebellopontine angle AVM. The patient was followed conservatively until she developed sudden headache, nausea and vomiting and presented to our outpatient clinic after several days. Magnetic resonance imaging demonstrated findings suggestive of early subacute SAH in the quadrigeminal cistern. A microsurgical flow reduction technique via clipping between the two ANs and partial electrocoagulation of the nidus buried within the eighth cranial nerve provided radiographical devascularization of the ANs with residual AVM shunt flow and no major deficits during the 2.5 year follow-up. This is only the second report of an auditory nerve AVM. In the event of recurrence, reoperation or application of alternative therapies may be considered. PMID:26244159

  8. Sports participation with Chiari I malformation.

    PubMed

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe. PMID:26636249

  9. [Intracranial arteriovenous malformations in pregnant women].

    PubMed

    Perquin, D A; Kloet, A; Tans, J T; Witte, G N; Dörr, P J

    1999-03-01

    Three women, aged 27, 32 and 30 years, respectively, suffered from headache, nausea and neurological abnormalities and were found to have an intracranial arteriovenous malformation (AVM). One of them after diagnosis had two pregnancies, both ended by caesarean section with good results. Another woman was 32 weeks pregnant when the AVM manifested itself with a haemorrhage; she recovered well and was delivered by caesarean section. After the AVM proved radiologically to have been obliterated, she delivered after her subsequent pregnancy by the vaginal route with vacuum extraction. The third woman was 15 weeks pregnant when major abnormalities developed. There was a large intracerebral haematoma with break-through to the ventricular system; this patient died. Intracranial haemorrhage during pregnancy is rate. It can result in maternal and foetal morbidity and mortality. It appears that pregnancy does not increase the rate of first cerebral haemorrhage from an AVM. The management of AVM rupture during pregnancy should be based primarily on neurosurgical rather than on obstetric considerations. Close collaboration with a team of neurologists, neurosurgeons, obstetricians and anaesthesiologists is mandatory. PMID:10321255

  10. [Pyruvate dehydrogenase deficiency and cerebral malformations].

    PubMed

    Eirís, J; Alvarez-Moreno, A; Briones, P; Alonso-Alonso, C; Castro-Gago, M

    1996-10-01

    Pyruvate dehydrogenase (PDH) deficiency is a major cause of primary lactic acidosis and severe global developmental delay. A deficiency of PDH E1 alpha, a subunit of the PDH complex is a prominent cause of congenital lactic acidosis. The E1 alpha cDNA and corresponding genomic DNA have been located in the short arm of the X-chromosome (Xp22-1). A isolated 'cerebral' lactic acidosis with cerebral dysgenesis is a recognized pattern of presentation of PDH deficiency. Here, we report clinical features, magnetic resonance, and biochemical studies of two females aged 6 months (case 1) and 26 months (case 2). Both had severe development delay, minor dysmorphic features, microcephaly, severe hypoplasia of the corpus callosum, cerebral atrophy, ventricular dilatation and increase in serum lactate levels without systemic acidosis. Urinary organic acid profile was compatible with PDH deficiency. Increased CSF lactate and pyruvate levels and reduced total PDH and PDH E1 activities in muscle and fibroblasts were observed in case 1. Otherwise, decreased total PDH activity in muscle but not in fibroblasts was seen in case 2. The PDH E1á gene was sequenced in the case 1 and a deletion in exon 7 was demonstrated. Dysmorphism with severe cerebral malformations in female patients merits a metabolic evaluation, including determination of lactate and pyruvate levels in CSF. PMID:8983728

  11. AUTISM WITH OPHTHALMOLOGIC MALFORMATIONS: THE PLOT THICKENS

    PubMed Central

    Miller, Marilyn T; Strömland, Kerstin; Ventura, Liana; Johansson, Maria; Bandim, Jose M; Gillberg, Christopher

    2004-01-01

    ABSTRACT Purpose To review the association of autism spectrum disorder (ASD) in individuals manifesting thalidomide embryopathy and Möbius sequence and compare them with three new studies in which ASD was also associated with ocular and systemic malformations: (1) a Swedish study of individuals with CHARGE association (Coloboma, Heart, choanal Atresia, developmental or growth Retardation, Genital anomaly, and Ear involvement); (2) a Swedish study of Goldenhar syndrome; and (3) Brazilian Möbius syndrome (sequence) study. Methods In the Swedish CHARGE study, 31 patients met the inclusion criteria (3+ or 4 of the common characteristics of the CHARGE syndrome). The same team of investigators also evaluated 20 Swedish patients with Goldenhar syndrome. In the Brazilian Möbius study, 28 children with a diagnosis of Möbius sequence were studied; some children had a history of exposure during their mother’s pregnancy to the abortifacient drug misoprostol in an unsuccessful abortion attempt Results In the CHARGE study, five patients had the more severe autism disorder and five had autistic-like condition. In the Goldenhar study, two had autism disorder and one had autistic-like condition. In the Brazilian Möbius study, the systemic findings of the misoprostol-exposed and misoprostol-unexposed patients were almost undistinguishable, and ASD was present in both groups (autism disorder in five and autistic-like condition in three). Conclusion Autism spectrum disorder has been reported in two conditions with known early pregnancy exposure to the teratogenic agents thalidomide and misoprostol. In the Brazilian Möbius study, autism also occurred in both the misoprostol-exposed and misoprostol-unexposed groups. Autism also was present in patients with both CHARGE association and Goldenhar syndrome. PMID:15747750

  12. Repeat radiosurgery for cerebral arteriovenous malformations.

    PubMed

    Awad, Ahmed J; Walcott, Brian P; Stapleton, Christopher J; Ding, Dale; Lee, Cheng-Chia; Loeffler, Jay S

    2015-06-01

    We perform a systematic review of repeat radiosurgery for cerebral arteriovenous malformations (AVM) with an emphasis on lesion obliteration rates and complications. Radiosurgery is an accepted treatment modality for AVM located in eloquent cortex or deep brain structures. For residual or persistent lesions, repeat radiosurgery can be considered if sufficient time has passed to allow for a full appreciation of treatment effects, usually at least 3years. A systematic review was performed in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. References for this review were identified by searches of MEDLINE, Web of Science and Google Scholar databases. A total of 14 studies comprising 733 patients met the review criteria and were included. For series that reported target dose at both first and repeat treatments, the weighted means were 19.42Gy and 19.06Gy, respectively. The mean and median obliteration rate for the repeat radiosurgery treatments were 61% (95% confidence interval 51.9-71.7%) and 61.5%, respectively. The median follow up following radiosurgery ranged from 19.5 to 80months. Time to complete obliteration after the repeat treatment ranged from 21 to 40.8months. The most common complications of repeat radiosurgery for AVM included hemorrhage (7.6%) and radiation-induced changes (7.4%). Repeat radiosurgery can be used to treat incompletely obliterated AVM with an obliteration rate of 61%. Complications are related to treatment effect latency (hemorrhage risk) as well as radiation-induced changes. Repeat radiosurgery can be performed at 3 years following the initial treatment, allowing for full realization of effects from the initial treatment prior to commencing therapy. PMID:25913746

  13. Anorectal malformations caused by defects in sonic hedgehog signaling.

    PubMed

    Mo, R; Kim, J H; Zhang, J; Chiang, C; Hui, C C; Kim, P C

    2001-08-01

    Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2(-/-);Gli3(+/-), Gli2(+/-);Gli3(-/-), and Gli2(-/-);Gli3(-/-) mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents. PMID:11485934

  14. Anorectal Malformations Caused by Defects in Sonic Hedgehog Signaling

    PubMed Central

    Mo, Rong; Kim, Jae Hong; Zhang, Jianrong; Chiang, Chin; Hui, Chi-chung; Kim, Peter C. W.

    2001-01-01

    Anorectal malformations are a common clinical problem affecting the development of the distal hindgut in infants. The spectrum of anorectal malformations ranges from the mildly stenotic anus to imperforate anus with a fistula between the urinary and intestinal tracts to the most severe form, persistent cloaca. The etiology, embryology, and pathogenesis of anorectal malformations are poorly understood and controversial. Sonic hedgehog (Shh) is an endoderm-derived signaling molecule that induces mesodermal gene expression in the chick hindgut. However, the role of Shh signaling in mammalian hindgut development is unknown. Here, we show that mutant mice with various defects in the Shh signaling pathway exhibit a spectrum of distal hindgut defects mimicking human anorectal malformations. Shh null-mutant mice display persistent cloaca. Mutant mice lacking Gli2 or Gli3, two zinc finger transcription factors involved in Shh signaling, respectively, exhibit imperforate anus with recto-urethral fistula and anal stenosis. Furthermore, persistent cloaca is also observed in Gli2−/−;Gli3+/−, Gli2+/−;Gli3−/−, and Gli2−/−;Gli3−/− mice demonstrating a gene dose-dependent effect. Therefore, Shh signaling is essential for normal development of the distal hindgut in mice and mutations affecting Shh signaling produce a spectrum of anorectal malformations that may reveal new insights into their human disease equivalents. PMID:11485934

  15. Defining anural malformations in the context of a developmental problem

    USGS Publications Warehouse

    Meteyer, C.U.; Cole, R.A.; Converse, K.A.; Docherty, D.E.; Wolcott, M.; Helgen, J.C.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

    2000-01-01

    This paper summarizes terminology and general concepts involved in animal development for the purpose of providing background for the study and understanding of frog malformations. The results of our radiographic investigation of rear limb malformations in Rana pipiens provide evidence that frog malformations are the product of early developmental errors. Although bacteria, parasites and viruses were identified in these metamorphosed frogs, the relevant window to look for the teratogenic effect of these agents is in the early tadpole stage during limb development. As a result, our microbiological findings must be regarded as inconclusive relative to determining their contribution to malformations because we conducted our examinations on metamorphosed frogs not tadpoles. Future studies need to look at teratogenic agents (chemical, microbial, physical or mechanical) that are present in the embryo, tadpole, and their environments at the stages of development that are relevant for the malformation type. The impact of these teratogenic agents then needs to be assessed in appropriate animal models using studies that are designed to mimic field conditions. The results of these laboratory tests should then be analyzed in such a way that will allow comparison with the findings in the wild-caught tadpoles and frogs.

  16. Local Model of Arteriovenous Malformation of the Human Brain

    NASA Astrophysics Data System (ADS)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  17. High Temporal and Spatial Resolution Imaging of Peripheral Vascular Malformations

    PubMed Central

    Mostardi, Petrice M.; Young, Phillip M.; McKusick, Michael A.; Riederer, Stephen J.

    2013-01-01

    Purpose To assess the performance of a recently developed 3D time-resolved CE-MRA technique, Cartesian Acquisition with Projection-Reconstruction-like sampling (CAPR), for accurate characterization and treatment planning of vascular malformations of the periphery. Materials and Methods Twelve patient studies were performed (eight female, four male; average age, 33 years). The protocol consisted of three-dimensional (3D) time-resolved CE-MRA followed by a single late phase T1-weighted acquisition. Vascular malformations were imaged in the forearm, hand, thigh, and foot. Imaging evaluation was performed for accurate characterization of lesion type, identification of feeding and draining vessels, involvement with surrounding tissue, overall quality for diagnosis and treatment planning, and correlation with conventional angiography. Results Time-resolved CE-MRA allowed for characterization of malformation flow and type. Feeding and draining vessels were identified in all cases. Overall quality for diagnosis and treatment planning was 3.58/4.0, and correlation with conventional angiography was scored as 3.89/4.0. Conclusion The CAPR time series has been shown to portray the temporal dynamics and structure of vascular malformations as well as the normal vasculature with high quality. CAPR time-resolved imaging is able to accurately characterize high and low flow lesions, allowing for pretreatment lesion assessment and treatment planning. Delayed imaging is important to capture complete filling of very slow flow vascular malformations. PMID:22674646

  18. Sporadic Multifocal Venous Malformations of the Head and Neck

    PubMed Central

    Amato, Michael V.; Patel, Neha A.; Hu, Shirley; Pantelides, Harry

    2015-01-01

    Objective. To report a case of unusually widespread sporadic venous malformations of the head and neck associated with normal D-dimer levels and, due to the protean clinical manifestations and increased risk of coagulopathy of these lesions, to review their diagnosis and clinical management. Case Report. A 25-year-old man presented with a one-year history of intermittent right-sided neck swelling and tongue swelling. Physical exam revealed additional lesions present throughout the head and neck. There was no family history suggestive of heritable vascular malformations. Radiographic imaging demonstrated 15 lesions located in various tissue layers consistent with venous malformations. A coagulation screen showed a normal prothrombin time, activated partial thromboplastin time, international normalized ratio, D-dimer level, and fibrinogen level. It was determined that the patient was not at increased risk for intraoperative coagulopathy and preoperative heparin administration would not be necessary. The patient's buccal and tongue lesions were subsequently excised with no complications. The patient also underwent sclerotherapy evaluation for his neck mass. Conclusion. This case describes a unique presentation of sporadic multifocal venous malformations. It also emphasizes the importance of prompt diagnosis and workup when multiple venous malformations are present to prevent morbidity during surgical excision secondary to intravascular coagulopathy. PMID:26483982

  19. Spinal arteriovenous malformations: Is surgery indicated?

    PubMed Central

    Singh, Bikramjit; Behari, Sanjay; Jaiswal, Awadhesh K.; Sahu, Rabi Narayan; Mehrotra, Anant; Mohan, B. Madan; Phadke, Rajendra V.

    2016-01-01

    Purpose: To identify clinico-radiological distinguishing features in various types of spinal arteriovenous malformations (AVM) with an aim to define the role of surgical intervention. Materials and Methods: Hero's modified Di Chiro classification differentiated four types of spinal AVMs on digital subtraction angiogram (DSA) in 74 patients: I. Dural arteriovenous fistulae (n = 35, 47.3%); II. Glomus/intramedullary (n = 13, 17.6%); III. Juvenile/metameric (n = 4, 5.4%); and, IV. Ventral perimedullary fistula (n = 21, 28.4%). A patient with extradural AVM remained unclassified. Demographic profiles, DSA features and reason for surgical referral were recorded. Statistical comparison of discrete variables like gender, spinal cord level, presentation and outcome was made using Chi-square test; and, continuous variables like age, feeder number, duration of symptoms and number of staged embolizations by one way analysis of variance with Boneferoni post hoc comparison. Embolization alone (n = 39, 52.7%), surgery alone (n = 16, 21.6%), and combined approach (n = 4, 5.4%) were the treatments offered (15 were treated elsewhere). Results: Type I-AVM occurred in significantly older population than other types (P = 0.01). Mean duration of symptoms was 13.18 ± 12.8 months. Thoracic cord involvement predominated in type-I and III AVMs (P = 0.01). Number of feeding arteries were 1 in 59.7%; 2 in 29.0%; and, multiple in 11.3% patients, respectively. Staged embolization procedures in type-III AVM were significant (P < 0.01). Surgical referral was required due to: Vessel tortuosity/insufficient parent vessel caliber (n = 7); residual AVM (n = 4); low flow AVM (n = 3); and, multiple feeders (n = 2). Check DSA (n = 34) revealed complete AVM obliteration in 26 and minor residual lesion in eight patients. Neurological status improved in 26 and stabilized in 25 patients. Conclusions: Differentiating between Type I-IV AVMs has a significant bearing on their management. Surgical

  20. An Unusual Cause of Dysphagia: A Large Expectorated Arteriovenous Malformation

    PubMed Central

    Griffin, Aaron S.; Gunasena, Rivindi; Schaefer, Nathan R.; Kennedy, Edmund

    2015-01-01

    Background Vascular malformations are generally detected in childhood or adolescence with first presentations in adulthood being rare. Case Report We report the case of a 52-year-old female with threatened compromise of her airway after expectorating a massive arteriovenous malformation anchored at the supraglottis. The only preceding symptom was dysphagia. The lesion was resected, the patient had a quick recovery, and she has shown no evidence of recurrence. Conclusion Although uncommon, vascular malformations of the supraglottis or hypopharynx should be considered in the differential diagnosis of a patient presenting with dysphagia because of the potential to cause disastrous airway compromise. Although a lesion presenting acutely mandates a definitive airway plan, when clinically possible, computed tomography scan and indirect laryngoscopy can provide useful information for the airway and operative teams. PMID:26130989

  1. Pediatric intraoral high-flow arteriovenous malformation: a diagnostic challenge.

    PubMed

    Petel, Roy; Ashkenazi, Malka

    2014-01-01

    Arteriovenous malformations (AVMs) are rarely reported in the dental pediatric literature. They may develop adjacent to primary molars and can be life-threatening due to their potential for massive bleeding. The most common symptom associated with documented cases of AVMs is spontaneous gingival bleeding. Other clinical signs include pain, erythematous gingiva, resorption and mobility of teeth, soft tissue discoloration, facial swelling, and asymmetry. Radiographically, AVMs are osteolytic lesions. The purpose of this report was to describe the challenge of diagnosis of a high-flow arteriovenous malformation located in the primary maxillary molar region, which was misdiagnosed as a dentoalveolar abscess adjacent to previously treated primary molars. A decision to extract a tooth with gingival swelling and associated spontaneous bleeding should be made after the differential diagnosis of a vascular malformation has been ruled out. PMID:25303512

  2. Arteriovenous malformation of the filum terminale: an exceptional case.

    PubMed

    Troude, Lucas; Melot, Anthony; Brunel, Hervé; Roche, Pierre-Hugues

    2016-06-01

    Arteriovenous malformations (AVMs) of the spine display a variety of different locations, angioarchitectures, and clinical presentations. The authors describe an exceptional case of a filum terminale AVM that is not described in any classification and discuss the origin and management of this malformation. A 59-year-old woman was admitted in June 2012 for cauda equina syndrome. Magnetic resonance imaging and spinal angiography revealed an AVM of the filum terminale, located below the conus medullaris, fed by the anterior spinal artery. After an unsuccessful attempt to reach the nidus with a microcatheter, the AVM was resected. At 20 months after surgery, the patient was fully independent and radiological images confirmed the exclusion of the malformation. AVMs that originate from the filum terminale are exceptional. According to updated classifications, AVMs of the filum terminale should be categorized as a separate entity. PMID:26495953

  3. Electroencephalography in congenital malformations of the central nervous system.

    PubMed

    Campos, P; Cruz, G; Lizarraga, R; Bancalari, E; Guillen, D; Castañeda, C

    1994-12-01

    We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries. PMID:7611945

  4. Fetal Magnetic Resonance Imaging of Malformations Associated with Heterotaxy

    PubMed Central

    Shah, Parinda H; Anderson, Robert H

    2015-01-01

    Magnetic resonance imaging (MRI) is increasingly used as an investigation during fetal life, particularly for assessment of intracranial masses, congenital diaphragmatic hernia, myelomeningocele, and abdominal masses. As the number of scans increases, so is the variety of congenital malformations being recognized. It is axiomatic that interpretation of the findings is enhanced when attention is paid to the likely findings in the setting of known syndromes, this information then dictating the need for additional acquisition of images. One such syndrome is so-called “visceral heterotaxy”, in which there is typically an isomeric, rather than a lateralized, arrangement of the thoracic and abdominal organs. Typically associated with complex congenital cardiac malformations, heterotaxy can also involve the central nervous system, and produce pulmonary, gastrointestinal, immunologic, and genitourinary malformations. In this review, we discuss how these findings can be demonstrated using fetal MRI.  PMID:26180693

  5. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    PubMed Central

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient's risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis. PMID:27144044

  6. Venous malformations: Sclerotherapy with a mixture of ethanol and lipiodol

    SciTech Connect

    Suh, Jin-Suck; Shin, Kyoo-Ho; Na, Jae-Bum; Won, Jong-Yun; Hahn, Soo-Bong

    1997-07-15

    Purpose. To evaluate the usefulness of a mixture of absolute ethanol and lipiodol in the management of venous malformations. Methods. Percutaneous sclerotherapy was performed with a mixture of absolute ethanol and lipiodol (9:1) in 17 patients with venous malformations, once in 12 patients, twice in 5. The therapeutic efficacy was evaluated by pain reduction. Conventional radiographs (n=15) and posttreatment magnetic resonance imaging (n=5) were obtained for the follow-up evaluation. Results. Sclerotherapy was successful in all but two patients. The therapeutic effect was excellent in two patients, good in seven, fair in five, and poor in one. Radiopacity of lipiodol was beneficial for monitoring the procedure rather than for follow-up evaluations. Areas with low signal-intensity strands were increased on T2-weighted images obtained after the sclerotherapy. Conclusion. Sclerotherapy with a mixture of ethanol and lipiodol is effective in treating venous malformations.

  7. Genomic Variants and Variations in Malformations of Cortical Development

    PubMed Central

    Jamuar, Saumya S.; Walsh, Christopher A.

    2015-01-01

    Malformations of cortical development (MCD) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Advances in genetic tools have expanded our understanding of the genetics of these malformations over the past few years, with a number of new causative genes identified in patients with MCD. In addition, there has been a vast expansion in the phenotypic characterization of the known genes, with a wide range as well as severity of malformations being reported. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These “somatic” mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic etiology can help in guiding families in future pregnancies. Recent work has highlighted how elucidation of key molecular pathway can also allow for targeted therapeutic interventions. PMID:26022163

  8. Models of cortical malformation--Chemical and physical.

    PubMed

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans. PMID:25850077

  9. Prenatal diagnosis of congenital renal and urinary tract malformations.

    PubMed

    Hindryckx, A; De Catte, L

    2011-01-01

    Congenital abnormalities of the kidneys and the urinary tract are the most common sonographically identified -malformations in the prenatal period. Obstructive uropathies account for the majority of cases. The aim of prenatal diagnosis and management is to detect those anomalies having impact on the prognosis of the affected child and -requiring early postnatal evaluation or treatment to minimize adverse outcomes. In this paper, we summarize the embryology of kidneys and urinary tract, the normal sonographic appearance through-out pregnancy and the prenatal diagnosis of their congenital malformations. PMID:24753862

  10. Split-hand/feet malformation: A rare syndrome

    PubMed Central

    Gane, Bahubali D.; Natarajan, P.

    2016-01-01

    Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy. PMID:27453866

  11. [Urinary tract abnormalities with anorrectal malformations (author's transl)].

    PubMed

    Nogués, A; Ceres, M L; Olagüe, R; Andrés, V; Lanuza, A

    1978-01-01

    Thirty five patients with anorrectal malformations are reviewed. These are divided in high and low anomalies according to some simple clinical data, better than the drawing of reference lines to determinate the height of puborrectalis muscle. Malformations were associated in 13 cases with urinary tract estructural anomalies and in four cases with isolated vesico-ureteral reflux. Diagnosis of urinary tract infection was made in 14 patients, 12 of them with recto-urinary fistula. A point is made about the complete and early exploration of all these patients to prevent irreparable renal damage that could be developed. PMID:655503

  12. Cerebral arteriovenous malformation presenting as visual deterioration in a child.

    PubMed

    Kaye, L C; Kaye, S B; Lagnado, R; Boothroyd, A; Morton, C; May, P

    2000-10-01

    A rare case of visual loss as the presenting feature of a central arteriovenous malformation involving the vein of Galen is reported. A 5-year-old girl with a history of deteriorating vision for the past 6 months was examined. Ocular examination showed a left hemianopia, left optic atrophy, and dilated vessels of the right optic disc. MRI revealed a massive deep-seated central arteriovenous malformation involving the vein of Galen. The mechanism of visual loss is likely to be a combination of ischaemic optic atrophy associated with a steal phenomenon and direct compression of the right optic radiation. PMID:11085301

  13. Multiple Complex Congenital Malformations in a Rabbit Kit (Oryctolagus cuniculi)

    PubMed Central

    Booth, Jennifer L; Peng, Xuwen; Baccon, Jennifer; Cooper, Timothy K

    2013-01-01

    Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosencephaly, gastroschisis, and a supernumerary hindlimb, among other anomalies. There was no historical exposure to teratogens or other known environmental causes. Although not confirmed, this case was most likely a rare spontaneous genetic event. PMID:24209970

  14. Chiari malformations: An important cause of pediatric aspiration.

    PubMed

    Fuller, Jennifer C; Sinha, Sumi; Caruso, Paul A; Hersh, Cheryl J; Butler, William E; Krishnamoorthy, Kalpathy S; Hartnick, Christopher J

    2016-09-01

    Chronic aspiration poses a major health risk to the pediatric population. We describe four cases in which work up for chronic aspiration with a brain MRI revealed a Chiari I malformation, a poorly described etiology of pediatric aspiration. All patients had at least one non-specific neurologic symptom but had swallow studies more characteristic of an anatomic than a neurologic etiology. Patients were referred to neurosurgery and underwent posterior fossa decompression with symptom improvement. A high index of suspicion for Chiari malformation should be maintained when the standard work up for aspiration is non-diagnostic, particularly when non-specific neurologic symptoms are present. PMID:27497399

  15. Split-hand/feet malformation: A rare syndrome.

    PubMed

    Gane, Bahubali D; Natarajan, P

    2016-01-01

    Split-hand/split-foot malformation (SHFM) is mainly inherited as an autosomal dominant trait with incomplete penetrance and characterized by malformation of the limb involving the central rays of the autopod. It presents with a deep median cleft of the hand and/or foot, aplasia/hypoplasia of the phalanges, metacarpals, and metatarsals. Pathogenic mechanism is a failure to maintain signaling from the median apical ectodermal ridge. Without this signaling, cells of the underlying progress zone stop proliferation and differentiation which in turn results in defects of the central rays. We describe a case of SHFM in 10-year-old boy. PMID:27453866

  16. ASSESSMENT OF ENVIRONMENTAL STRESSORS POTENTIALLY RESPONSIBLE FOR MALFORMATIONS IN NORTH AMERICAN ANURAN AMPHIBIANS

    EPA Science Inventory

    A number of species of anuran amphibians from different regions across North America have recently exhibited an increased occurrence of, predominantly, hind limb malformations. Research concerning factors potentially responsible for these malformations has focused extensively on ...

  17. Sclerotherapy using 1% sodium tetradecyl sulfate to treat a vascular malformation: a report of two cases

    PubMed Central

    2015-01-01

    Vascular malformations are the most common congenital and neonatal vascular anomalies in the head and neck region. The demand for simple and esthetic vascular malformation treatments have increased more recently. In this study, two patients that were diagnosed with venous malformations were treated with sodium tetradecyl sulfate as a sclerosing agent. Recurrence was not found one year after the surgery. This article gives a brief case report of sclerotherapy as an effective approach to treat vascular malformations in the oral cavity. PMID:26734559

  18. Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

  19. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    ERIC Educational Resources Information Center

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  20. Diencephalic-Mesencephalic Junction Dysplasia: A Novel Recessive Brain Malformation

    ERIC Educational Resources Information Center

    Zaki, Maha S.; Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic "butterfly"-like contour of the midbrain on…

  1. Neurodevelopmental Outcomes in Children with Cerebellar Malformations: A Systematic Review

    ERIC Educational Resources Information Center

    Bolduc, Marie-Eve; Limperopoulos, Catherine

    2009-01-01

    Cerebellar malformations are increasingly diagnosed in the fetal period. Consequently, their consideration requires stressful and often critical decisions from both clinicians and families. This has resulted in an emergent need to understand better the impact of these early life lesions on child development. We performed a comprehensive literature…

  2. Corpus callosum arteriovenous malformation with persistent trigeminal artery.

    PubMed

    Mohanty, Chandan B; Devi, B Indira; Somanna, Sampath; Bhat, Dhananjaya I; Dawn, Rose

    2011-12-01

    A 13-year-old boy presented with an intracerebral haematoma secondary to a large corpus callosal arteriovenous malformation (AVM) with an associated persistent trigeminal artery, and was treated with Gamma-Knife Radiosurgery for the AVM. This report discusses the embryological basis, radiological features and various classifications of this rare vascular anomaly. PMID:21501055

  3. [A case of malformation in Pachycheles serratus (Decapoda: Porcellanidae)].

    PubMed

    Lira, C; Hernández, G; Bolaños, J A

    2003-06-01

    An adult male of Pachycheles serratus with a malformation on the right cheliped was found during a collection of anomuran crabs in coastal waters of the peninsula de Macanao, Margarita island, Venezuela. The specimen was found at La Carmela beach (11 degrees 04'N-64 degrees 20'W), and featured a bifurcated fixed finger on the right cheliped. PMID:15264565

  4. Embryonic Expression of Cyclooxygenase-2 Causes Malformations in Axial Skeleton*

    PubMed Central

    Shim, Minsub; Foley, Julie; Anna, Colleen; Mishina, Yuji; Eling, Thomas

    2010-01-01

    Cyclooxygenases (COXs) have important functions in various physiological and pathological processes. COX-2 expression is highly induced by a variety of stimuli and is observed during certain periods of embryonic development. In this report, the direct effect of COX-2 expression on embryonic development is examined in a novel COX-2 transgenic mouse model that ubiquitously expresses human COX-2 from the early stages of embryonic development. COX-2 transgenic fetuses exhibit severe skeletal malformations and die shortly after birth. Skeletal malformations are localized along the entire vertebral column and rib cage and are linked to defective formation of cartilage anlagen. The cartilage anlagen of axial skeleton fail to properly develop in transgenic embryos because of impaired precartilaginous sclerotomal condensation, which results from the reduction of cell number in the sclerotome. Despite the ubiquitous expression of COX-2, the number of apoptotic cells is highly increased in the sclerotome of transgenic embryos but not in other tissues, suggesting that it is a tissue-specific response. Therefore, the loss of sclerotomal cells due to an increased apoptosis is probably responsible for axial skeletal malformations in transgenic fetuses. In addition, the sclerotomal accumulation of p53 protein is observed in transgenic embryos, suggesting that COX-2 may induce apoptosis via the up-regulation of p53. Our results demonstrate that the aberrant COX-2 signaling during embryonic development is teratogenic and suggest a possible association of COX-2 with fetal malformations of unknown etiology. PMID:20236942

  5. Failed transarterial embolization of subserosal uterine arteriovenous malformation

    PubMed Central

    Seo, Kyung Jin; Kim, Jin; Sohn, In Sook; Kwon, Han Sung; Park, Sang Woo

    2013-01-01

    Uterine arteriovenous malformation (AVM) is rare but potentially life-threatening from excessive vaginal bleeding. All uterine AVMs reported to date have been found in the endometrial or myometrial layers. Here we present a patient with a subserosal type AVM on the fundus of uterus, which spontaneously ruptured. PMID:24328024

  6. Proximity to pollution sources and risk of amphibian limb malformation.

    PubMed

    Taylor, Brynn; Skelly, David; Demarchis, Livia K; Slade, Martin D; Galusha, Deron; Rabinowitz, Peter M

    2005-11-01

    The cause of limb deformities in wild amphibian populations remains unclear, even though the apparent increase in prevalence of this condition may have implications for human health. Few studies have simultaneously assessed the effect of multiple exposures on the risk of limb deformities. In a cross-sectional survey of 5,264 hylid and ranid metamorphs in 42 Vermont wetlands, we assessed independent risk factors for nontraumatic limb malformation. The rate of nontraumatic limb malformation varied by location from 0 to 10.2%. Analysis of a subsample did not demonstrate any evidence of infection with the parasite Ribeiroia. We used geographic information system (GIS) land-use/land-cover data to validate field observations of land use in the proximity of study wetlands. In a multiple logistic regression model that included land use as well as developmental stage, genus, and water-quality measures, proximity to agricultural land use was associated with an increased risk of limb malformation (odds ratio = 2.26; 95% confidence interval, 1.42-3.58; p < 0.001). The overall discriminant power of the statistical model was high (C = 0.79). These findings from one of the largest systematic surveys to date provide support for the role of chemical toxicants in the development of amphibian limb malformation and demonstrate the value of an epidemiologic approach to this problem. PMID:16263502

  7. [Congenital malformations of the external and middle ear].

    PubMed

    Wang, Zhaoyan; Yang, Jun; Wu, Hao

    2013-07-01

    Congenital malformations of the external and middle ear is the common reason of pediatric hearing impairment and cosmic problem. The treatment composes of auricular plastic surgery and auditory reconstruction surgery. The use of BAHA, vibrant sound-bridge and tissue engineering materials can significantly improve the treatment outcomes. PMID:24073571

  8. Hypospadias and anorectal malformations mediated by Eph/ephrin signaling

    PubMed Central

    Yucel, Selcuk; Dravis, Christopher; Garcia, Nilda; Henkemeyer, Mark; Baker, Linda A.

    2007-01-01

    Purpose Despite extensive research, the molecular basis of hypospadias and anorectal malformations is poorly understood, likely due to a multifactorial basis. The incidence of hypospadias is increasing, thus making research in this area warranted and timely. This review presents recent molecular work broadening our understanding of these disorders. Materials and Methods A brief review of our recent work and the literature on the role of Eph/ephrin signaling in hypospadias and anorectal malformations is presented. Results Genetically engineered mice mutant for ephrin-B2 or EphB2;EphB3 manifest a variety of genitourinary and anorectal malformations. Approximately 40% of adult male heterozygous mice demonstrate perineal hypospadias. Although homozygous mice die soon after birth, 100% of homozygous males demonstrate high imperforate anus with urethral anomalies and 100% of homozygous females demonstrate persistent cloaca. Male mice compound homozygous for EphB2ki/ki;EphB3Δ/Δ/ also demonstrate hypospadias. Conclusions These mouse models provide compelling evidence of the role of B-class Eph/ephrin signaling in genitourinary/anorectal development and add to our mechanistic and molecular understanding of normal and abnormal embryonic development. As research on the B-class Ephs and ephrins continues, they will likely be shown to be molecular contributors to the multifactorial basis of hypospadias and anorectal malformations in humans as well. PMID:18431460

  9. Gallbladder malformation with gastric wall-like architecture.

    PubMed

    Santonja, C; Rollán, V

    1996-09-01

    A 3-year-old girl was found to have a distended gallbladder, which pathologically consisted almost entirely of a gastric-type wall, featuring muscularis mucosae and a well-developed bilayered muscularis propria. This appears to be a unique, not previously recognized, malformation of the gallbladder. PMID:8887106

  10. Ventral Decompression in Chiari Malformation, Basilar Invagination, and Related Disorders.

    PubMed

    Ridder, Thomas; Anderson, Richard C E; Hankinson, Todd C

    2015-10-01

    Ventral brainstem compression is an uncommon clinical diagnosis seen by pediatric neurosurgeons and associated with Chiari malformation, type I. Presenting clinical symptoms often include headaches, lower cranial neuropathies, myelopathy, central sleep apnea, ataxia, and nystagmus. When ventral decompression is required, both open and endoscopic transoral/transnasal approaches are highly effective. PMID:26408067

  11. Stereotactic microresection of small cerebral vascular malformations (SCVM).

    PubMed

    Lerch, K D; Schaefer, D; Palleske, H

    1994-01-01

    Between 1988-1993 we performed CT-stereotactic guided microsurgical resection as a one-session-procedure in 46 patients bearing small (< 30 mm) cerebral vascular malformations (SCVM). The location of the SCVM was deep subcortical in 38 patients, temporal medio- basal in 3 and brainstem in 5. The surgical technique intended to minimise invasiveness by reducing the operative approach to a size less than the diameter of the lesion concerned. The mean diameter of our SCVM's was 20 mm ranging from 10 to 30 mm. Histologically we found 23 arteriovenous malformations, 22 cavernous malformations and 1 capillary telangiectasia (capillary malformation). Clinical symptomatology consisted mainly of seizures, (progressive) neurological deficit and (minute) acute intracerebral bleeding. The SCVMs could be demonstrated by contrast-enhanced CT as well as by MRI. 15 of the AVM's revealed as angiographically occult. Complete microsurgical resection of the SCVM was accomplished in all cases with a surgical morbidity of 6.5% and no operative mortality. In 14 patients, most of them with initial acute intracerebral haemorrhage, the pronounced focal neurological deficit improved. During the follow-up period (1/2-5 years) no rebleeding occurred. As far as epileptic seizures were concerned 13 patients became seizure-free without anticonvulsants and 11 patients seizure-free with anticonvulsant, in the remaining 4 patients seizures were reduced in frequency. PMID:7725939

  12. Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

    PubMed

    Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

    2015-12-01

    Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae. PMID:26667632

  13. Diagnosis and Nonsurgical Management of Uterine Arteriovenous Malformation

    SciTech Connect

    Rangarajan, R. D.; Moloney, J. C.; Anderson, H. J.

    2007-11-15

    Uterine arteriovenous malformation (AVM) is an uncommon problem and traditional treatment by hysterectomy excludes the possibility of future pregnancy. Developments in interventional techniques make transcatheter embolization of the feeding vessel(s) a therapeutic alternative, potentially preserving the patient's fertility. We present a case of successful endovascular treatment of uterine AVM.

  14. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions

    PubMed Central

    Akers, Amy L.; Ball, Karen L.; Clancy, Marianne; Comi, Anne M.; Faughnan, Marie E.; Gopal-Srivastava, Rashmi; Jacobs, Thomas P.; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A.; McCulloch, Charles E.; Morrison, Leslie; Moses, Marsha; Moy, Claudia S.; Pawlikowska, Ludmilla; Young, William L.

    2013-01-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in “research silos” with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  15. Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

    PubMed

    Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

    2013-04-01

    Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation, and HHT Foundation International. Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations. PMID:25221778

  16. Correlation between ultrasound diagnosis and autopsy findings of fetal malformations

    PubMed Central

    Vimercati, Antonella; Grasso, Silvana; Abruzzese, Marinella; Chincoli, Annarosa; de Gennaro, Alessandra; Miccolis, Angela; Serio, Gabriella; Selvaggi, Luigi; Fascilla, Fabiana Divina

    2012-01-01

    Summary Objective to compare ultrasound (US) and autopsy findings of fetal malformations in second trimester terminations of pregnancy to evaluate the degree of agreement between US and fetal autopsy. Methods in this study, all second trimester termination of pregnancy between 2003–2010 were considered. US and autopsy findings were compared and all cases were classified into five categories according to the degree of agreement between US and pathology (A1: full agreement between US and autopsy; A2: autopsy confirmed all US findings but revealed additional anomalies ‘rarely detectable’ prenatally; B: autopsy demonstrated all US findings but revealed additional anomalies ‘detectable’ prenatally; C: US findings were only partially demonstrated at fetal autopsy; D: total disagreement between US and autopsy). Results 144 cases were selected. In 49% of cases there was total agreement between US and autopsy diagnosis (A1). In 22% of cases additional information were about anomalies ‘not detectable’ by US (A2). In 12% of cases autopsy provided additional information about anomalies not observed but ‘detectable’ by US (B). In 13% of cases some anomalies revealed at US, such as valve insufficiencies, pericardial and pleural effusions, were not verified at autopsy (C). Total lack of agreement was noted only in 4% of cases (D). Main areas of disagreement concerned cardiovascular, CNS and complex malformations. The degree of agreement was higher if malformations were diagnosed in a tertiary center. Conclusions this study shows an overall high degree of agreement between definitive US and autopsy findings in second trimester termination of pregnancy for fetal malformations. Autopsy reveals to be the best tool to diagnose malformations and often showed other abnormalities of clinical importance not detected by US, but sometimes also US could provide additional information about functional anomalies because US is a dynamic examination. PMID:22905306

  17. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    SciTech Connect

    Lv, Ming-ming; Fan, Xin-dong; Su, Li-xin

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  18. cis-Regulatory Mutations Are a Genetic Cause of Human Limb Malformations

    PubMed Central

    VanderMeer, Julia E.; Ahituv, Nadav

    2011-01-01

    The underlying mutations that cause human limb malformations are often difficult to determine, particularly for limb malformations that occur as isolated traits. Evidence from a variety of studies shows that cis-regulatory mutations, specifically in enhancers, can lead to some of these isolated limb malformations. Here, we provide a review of human limb malformations that have been shown to be caused by enhancer mutations and propose that cis-regulatory mutations will continue to be identified as the cause of additional human malformations as our understanding of regulatory sequences improves. PMID:21509892

  19. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    PubMed Central

    2011-01-01

    Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC) has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process. PMID:22136635

  20. Spontaneous thrombosis of a vein of galen malformation.

    PubMed

    Mohanty, Chandan B; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  1. Spontaneous thrombosis of a vein of galen malformation

    PubMed Central

    Mohanty, Chandan B.; Srinivas, Dwarakanath; Sampath, Somanna

    2016-01-01

    Vein of Galen malformation (VOGM) is a rare congenital vascular anomaly, comprising about 1% of all intracranial vascular anomalies, predominantly affecting the children less than 1 year of age. A 6-month-old infant presented with complaints of increasing head size of 3 months duration and multiple episodes of vomiting associated with refusal to feed since 7 days. He was a known case of VOGM who had initially refused treatment. Investigations revealed a spontaneously thrombosed VOGM with obstructive hydrocephalous. Child improved uneventfully with ventriculoperitoneal shunt. Spontaneous thrombosis of a VOGM is a rare occurrence and carries a better prognosis. The relevant literature is discussed with emphasis on etiopathogenesis, mechanism, and management of spontaneous thrombosis of the malformation. PMID:26889287

  2. Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation.

    PubMed

    Zaki, Maha S; Saleem, Sahar N; Dobyns, William B; Barkovich, A James; Bartsch, Hauke; Dale, Anders M; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G; Grijalvo-Perez, Ana Maria

    2012-08-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic-mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic-mesencephalic junction with a characteristic 'butterfly'-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term 'diencephalic-mesencephalic junction dysplasia' to characterize this autosomal recessive malformation. PMID:22822038

  3. Pediatric lymphatic malformations: evolving understanding and therapeutic options.

    PubMed

    Defnet, Ann M; Bagrodia, Naina; Hernandez, Sonia L; Gwilliam, Natalie; Kandel, Jessica J

    2016-05-01

    Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, along with knowledge gained from clinical practice. A patient-centered approach, ideally provided by a multidisciplinary medical and surgical team, should guide timing and modality of treatment. Current treatment options include observation, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New medical and surgical therapies are emerging, and include sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management is to support and optimize these patients' quality of life. Researchers continue to study lymphatic malformations with the goal of increasing therapeutic options and developing effective clinical pathways for these complicated lesions. PMID:26815877

  4. [Congenital vascular malformations: epidemiology, classification and therapeutic basis].

    PubMed

    Pereira Albino, J

    2010-01-01

    Congenital vascular malformations are part of the rare diseases of angiology and vascular surgery and can present in a variety of forms. They rise a lot of doubts and many diagnostic and therapeutic challenges. Treatment options are widely variable and often debated; surgeons usually have doubts about the best procedure to adopt. It is also an area of great anatomic and functional variability where the confusion regarding the nomenclature and classifications has been frequent, rendering difficult to adopt standardized measures. There have been significant advances in the recent years towards reaching a consensus. Based on his practical clinical experience and past work on these issues, the author reviews the epidemiology, the classifications and the therapeutic basis of this pathology. The author emphasizes the fact that the International Society for the Study of Vascular Anomalies (ISSVA) classification provides a useful framework for classifying vascular anomalies, as well as the therapeutic percutaneous embolization using polidocanol foam to control venous malformations. PMID:20972487

  5. Ischaemic stroke with intact atrial septum--exclude arteriovenous malformations.

    PubMed

    Doering, Friederike; Eicken, Andreas; Hess, John

    2014-02-01

    A 44-year-old woman was referred to our centre for interventional cardiac catheterisation. The diagnostic work-up after a preceding ischaemic stroke led to the assumption of a patent foramen ovale due to a positive bubble study. Before the planned percutaneous closure of the patent foramen ovale, we performed a second bubble study, which showed an intact atrial septum. However, after two to three heart cycles bubbles could be detected in the left atrium, assuming a right-to-left shunt of an extracardiac origin most likely in the lung. We therefore performed cardiac catheterisation, yielding a pulmonary arteriovenous malformation in the lower lobe of the right lung. This was successfully closed interventionally by placing a Cook coil, as well as several plugs into the malformation and feeding vessels. PMID:23347820

  6. Urorectal septum malformation sequence in a newborn with VACTERL association.

    PubMed

    Patra, Soumya; Purkait, Radheshyam

    2012-02-01

    Urorectal septum malformation sequence (URSMS) is an extremely rare anomaly, consists of multiple system anomalies including ambiguous genitalia, absence of a perineal opening, an imperforate anus, and urological, colonic and lumbosacral defects. We describe a newborn with characteristic URSMS who also had features of congenital varus deformity of leg, polydactyly, tracheo-oesophageal fistula, cardiac defect, anal atresia and hydronephrosis in antenatal ultrasound characteristic of VACTERL association. PMID:22313652

  7. [Combined treatment of arteriovenous malformations of the head and neck].

    PubMed

    Galich, S P; Dabizha, A Iu; Gindich, O A; Ogorodnik, Ia P; Al'tman, I V; Gomoliako, I V; Guch, A A

    2015-01-01

    An arteriovenous malformation (AVM) is a vascular developmental abnormality conditioned by impaired embryonic morphogenesis and characterized by the development of an abnormal connection between arteries and veins. More than 50% of the total number of patients suffering from this pathology are those having the pathological foci localizing in the area of the head and neck. At present, a combined method is both a generally accepted and the most radical one used for treatment for AVM. However, in the majority of cases, excision of the malformation leaves an extensive and complicated defect of tissues, whose direct closure leads to coarse cicatricious deformities. Over the period from 2004 to 2012, we followed up a total of 37 patients presenting with arteriovenous malformations of the head and neck. At admission the patients underwent preoperative examination including clinical tests, ultrasound duplex scanning, arteriography, MRT, and computed tomography. 24-72 hours prior to the operative intervention the patients were subjected to embolisation of the main vessels supplying the vascular malformation. Excision of the AVM was in 8 cases followed by primary closure of the postoperative wound, in 17 patients the defect was closed by transposition of the axial flaps, and 12 subjects underwent free transplantation of composite complexes of tissues. Relapse of the disease was revealed in 17 patients. In the majority of cases, relapses developed during the first year after the operative intervention (10 cases). The control of the disease's course was obtained in 20 patients. In 8 of the 12 patients with free transplantation of flaps we managed to obtain long-term control over the disease's course (more than 5 years). Hence, free microsurgical transplantation of compound complexes of tissues may be considered as a method of choice for closing the defect after excising an AVM in the area of the head and neck. Replacement of the defect with a well-vascularized tissue complex

  8. Radiosurgery for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia.

    PubMed

    Maarouf, M; Runge, M; Kocher, M; Zähringer, M; Treuer, H; Sturm, V

    2004-07-27

    The authors evaluated the efficacy of radiosurgery (RS) for cerebral arteriovenous malformations in hereditary hemorrhagic telangiectasia (HHT AVMs). Two patients with seven HHT AVMs were treated by linear accelerator-RS. Complete obliteration was achieved 18 to 24 months post-treatment without side effects. Because HHT AVMs are small and multiple, RS is superior to microsurgery because it is noninvasive and all AVMs can be treated in one session regardless of their location. PMID:15277641

  9. Gated magnetic resonance imaging of congenital cardiac malformations

    SciTech Connect

    Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

    1984-01-01

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease.

  10. Congenital malformations: an inquiry into classification and nomenclature.

    PubMed Central

    Kalter, H

    1998-01-01

    In the beginning, as a familiar book recalls, the earth was a formless void. And by separating light from dark, water from sky, life from dust, order came forth. Thus appeared organisation and categorisation. This is to say, classification, since to classify is to make for order and clarity. These are the qualities needed today for the study of congenital malformations and eventual control of their occurrence. What follows is an inquiry into the present state of this desideratum. PMID:9719373

  11. Parental perceptions of congenital cardiovascular malformations in their children.

    PubMed

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute. PMID:26561359

  12. Thoracoscopic anatomical resection of congenital lung malformations in adults

    PubMed Central

    Macias, Lidia; Ojanguren, Amaia; Dahdah, Julien

    2015-01-01

    Congenital lung malformations (CLM) are a heterogeneous group of disorders that may require surgical resection to prevent complications. Thoracoscopic resection of CLM has been reported in infants. Our goal was to state whether it can also be a viable option in adults. Between 2007 and 2014, 11 patients had a thoracoscopic resection of a CLM (six lobectomies and five anatomic segmentectomies) with satisfactory results. Although being more challenging in adults due to infectious sequellae, this approach is safe. PMID:25922729

  13. Headache and Chiari I Malformation in Children and Adolescents.

    PubMed

    Victorio, M Cristina; Khoury, Chaouki K

    2016-02-01

    Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also often found incidentally in neuroimaging done for conditions other than headache. This article reviews the spectrum of headache in patients with CM I. PMID:27017020

  14. [Anorectal malformations: their diagnosis and the initial decisions].

    PubMed

    de Espinosa, H

    1994-05-01

    The author presents the salient aspects of anorectal malformation which allow us to simplify their anatomical diagnosis. In many cases only clinical means are used while in others adequate use of technical studies are necessary. This enables us to reach therapeutic decisions in the simplest and most orderly fashion so that patients with these anomalies may be given the opportunity of attaining normal or near normal function. PMID:7991806

  15. Novel Image-Guided Management of a Uterine Arteriovenous Malformation

    SciTech Connect

    Przybojewski, Stefan J. Sadler, David J.

    2011-02-15

    The investigators present a novel image-guided embolization, not previously described, of a uterine arteriovenous malformation (AVM) resistant to endovascular management. The uterus was exposed surgically, and Histoacryl (Braun, Fulda, Germany) was injected directly into the nidus using ultrasound guidance and fluoroscopy. The patient had a successful full-term pregnancy after this procedure. This technique may be a useful alternative management strategy in patients with uterine AVM who fail traditional endovascular embolization and who still desire fertility.

  16. The fetal respiratory system as target for antenatal therapy

    PubMed Central

    Toelen, J.; Carlon, M.; Claus, F.; Gijsbers, R.; Sandaite, I.; Dierickx, K.; Devlieger, R.; Devriendt, K.; Debeer, A.; Proesmans, M.; Debyser, Z.; Deprest, A.J.

    2011-01-01

    The widespread use of prenatal ultrasound has made the fetus a patient. A number of conditions diagnosed as such may require therapy prior to birth. Herein we describe past, current and potential future procedures designed to treat pulmonary conditions in the antenatal period. When congenital cystic adenomatoid malformation (CCAM) is associated with fetal hydrops, treatment is required. Prior to viability this may be in utero resection of the pathologic lung lobe or shunting of cystic lesions. More recently, fetuses with isolated congenital diaphragmatic hernia (CDH) with lethal lung hypoplasia have been offered percutaneous fetal tracheal occlusion to provoke lung growth. A very rare condition is laryngeal atresia, which requires peripartum re-establishment of the airways. As we get more experience with access to the fetal airways, this may open the doors for novel therapies. One of these is gene delivery to treat fetuses with serious monogenic disorders or to induce transient overexpression of certain proteins. We review the individual hurdles that are being met by researchers when designing fetal gene therapeutic strategies, in particular for the fetal lung. Also the use of stem cells for pulmonary disorders is currently explored. PMID:24753844

  17. Congenital malformations of the central nervous system in spontaneous abortions.

    PubMed Central

    Creasy, M R; Alberman, E D

    1976-01-01

    A study of 2620 pregnancies ending in spontaneous abortion revealed a CNS defect in 3.6% of embryos and fetuses, and 3% of all complete conceptuses. The type of malformation observed varied with the gestational age at expulsion, encephaloceles being predominant in earlier specimens, while more typical anencephalus and spina bifida were more common among later abortions. Chromosome abnormalities were found in 40% of abortuses with CNS defects, but were almost entirely confined to those which were still at the embryonic stage of development. 53% of the latter were chromosomally abnormal, which is the same as the proportion found among embryos without a CNS malformation. Using published life-tables of recognized pregnancies it was estimated that the prevalence of anencephalus, spina bifida, or related malformation (other than hydrocephalus), without a chromosome anomaly, is 5.3 per thousand conceptuses at the beginning of the eighth week of gestation. By comparing this with the prevalence in total births, it was further estimated that only 24% of these are born alive, with 54% aborting spontaneously and 22% being stillborn. PMID:775092

  18. Environmental monitoring using malformed embryos of the amphipod Monoporeia affinis

    SciTech Connect

    Sundelin, B.; Eriksson, A.K.

    1995-12-31

    Reproduction variables of Monoporeia affinis, such as embryonic malformation were confirmed as the most sensitive variable, when soft bottom microcosms were exposed to metals such as cadmium and lead, arsenic, organic compounds such as 4,5,6 trichloroguaiacol, contaminated sediment from areas impacted by heavy metals and pulp mill effluents. The effects were demonstrated also in low concentrations that did not significantly affect the meiofauna community. The microcosm test-system with high ecological realism could offer a possibility to translate laboratory results to the natural environments. Field surveys outside different types of pulp mills and metal works on the coast of the Gulf of Bothnia have confirmed the laboratory results. Significantly higher levels of malformed embryos of Monoporeia affinis were demonstrated in the impacted areas in comparison with reference areas. The reproduction variables of Monoporeia affinis have been used in the national environmental monitoring program during two years and results indicated possibilities to distinguish between effects of xenobiotica and secondary eutrophication effects, such as unsaturated oxygen condition and occurrence of sulfides, which resulted in increased frequencies of dead eggs but not affected the frequencies of malformed eggs and embryos.

  19. Acute Porphyria in a Patient with Arnold Chiari Malformation

    PubMed Central

    Shen, Jianbin; O’Keefe, Kevin; Webb, Lisa B.; DeGirolamo, Angela

    2015-01-01

    Patient: Female, 33 Final Diagnosis: Acute porphyria Symptoms: Abdominal pain • alternating bowel habits Medication: Metronidazole • bactrim • oxybutynin Clinical Procedure: EMG • porhyria workup Specialty: Neurology Objective: Rare disease Background: Acute porphyria and Arnold Chiari malformation are both uncommon genetic disorders without known association. The insidious onset, non-specific clinical manifestations, and precipitating factors often cause diagnosis of acute porphyria to be missed, particularly in patients with comorbidities. Case Report: A women with Arnold Chiari malformation type II who was treated with oxybutynin and antibiotics, including Bactrim for neurogenic bladder and recurrent urinary tract infection, presented with non-specific abdominal pain, constipation, and diarrhea. After receiving Flagyl for C. difficile colitis, the patient developed psychosis, ascending paralysis, and metabolic derangements. She underwent extensive neurological workup due to her congenital neurological abnormalities, most of which were unremarkable. As a differential diagnosis of Guillain Barré syndrome, acute porphyria was then considered and ultimately proved to be the diagnosis. After hematin administration and intense rehabilitation, the patient slowly recovered from the full-blown acute porphyria attack. Conclusions: This case report, for the first time, documents acute porphyria attack as a result of a sequential combination of 3 common medications. This is the first case report of the concomitant presence of both acute porphyria and Arnold Chiari malformation, 2 genetic disorders with unclear association. PMID:25697467

  20. Sonographic markers for early diagnosis of fetal malformations

    PubMed Central

    Renna, Maria Daniela; Pisani, Paola; Conversano, Francesco; Perrone, Emanuele; Casciaro, Ernesto; Renzo, Gian Carlo Di; Paola, Marco Di; Perrone, Antonio; Casciaro, Sergio

    2013-01-01

    Fetal malformations are very frequent in industrialized countries. Although advanced maternal age may affect pregnancy outcome adversely, 80%-90% of fetal malformations occur in the absence of a specific risk factor for parents. The only effective approach for prenatal screening is currently represented by an ultrasound scan. However, ultrasound methods present two important limitations: the substantial absence of quantitative parameters and the dependence on the sonographer experience. In recent years, together with the improvement in transducer technology, quantitative and objective sonographic markers highly predictive of fetal malformations have been developed. These markers can be detected at early gestation (11-14 wk) and generally are not pathological in themselves but have an increased incidence in abnormal fetuses. Thus, prenatal ultrasonography during the second trimester of gestation provides a “genetic sonogram”, including, for instance, nuchal translucency, short humeral length, echogenic bowel, echogenic intracardiac focus and choroid plexus cyst, that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%. Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies. In the future, sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis (amniocentesis, etc.). PMID:24179631

  1. Pathophysiological analyses of cortical malformation using gyrencephalic mammals.

    PubMed

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  2. Pathophysiological analyses of cortical malformation using gyrencephalic mammals

    PubMed Central

    Masuda, Kosuke; Toda, Tomohisa; Shinmyo, Yohei; Ebisu, Haruka; Hoshiba, Yoshio; Wakimoto, Mayu; Ichikawa, Yoshie; Kawasaki, Hiroshi

    2015-01-01

    One of the most prominent features of the cerebral cortex of higher mammals is the presence of gyri. Because malformations of the cortical gyri are associated with severe disability in brain function, the mechanisms underlying malformations of the cortical gyri have been of great interest. Combining gyrencephalic carnivore ferrets and genetic manipulations using in utero electroporation, here we successfully recapitulated the cortical phenotypes of thanatophoric dysplasia (TD) by expressing fibroblast growth factor 8 in the ferret cerebral cortex. Strikingly, in contrast to TD mice, our TD ferret model showed not only megalencephaly but also polymicrogyria. We further uncovered that outer radial glial cells (oRGs) and intermediate progenitor cells (IPs) were markedly increased. Because it has been proposed that increased oRGs and/or IPs resulted in the appearance of cortical gyri during evolution, it seemed possible that increased oRGs and IPs underlie the pathogenesis of polymicrogyria. Our findings should help shed light on the molecular mechanisms underlying the formation and malformation of cortical gyri in higher mammals. PMID:26482531

  3. Surgical and Endovascular Treatment for Spinal Arteriovenous Malformations

    PubMed Central

    ENDO, Toshiki; ENDO, Hidenori; SATO, Kenichi; MATSUMOTO, Yasushi; TOMINAGA, Teiji

    2016-01-01

    Spinal arteriovenous malformation (AVM) is a broad term that constitutes diverse vascular pathologies. To date, various classification schemes for spinal AVM have been proposed in literature, which helped neurosurgeons understand the pathophysiology of the disease and determine an optimal treatment strategy. To discuss indications and results of surgical and endovascular interventions for spinal AVM, this article refers to the following classification proposed by Anson and Spetzler in 1992: type I, dural arteriovenous fistula (AVF); type II, glomus intramedullary AVM; type III, juvenile malformations; and type IV, perimedullary AVF. In general, complete obliteration of the fistula is a key for better outcome in type I dural and type IV perimedullary AVFs. On the other hand, in type II glomus and type III juvenile malformations, functional preservation, instead of pursuing angiographical cure, is the main goal of the treatment. In such cases, reduction of the shunt flow can alleviate clinical symptoms. Proper management of spinal AVM should start with neurological examination and understanding of angioarchitectures, which provide critical information that guides the indication and modality of intervention. Finally, close collaboration of the microsurgical and endovascular teams are mandatory for successful treatment. PMID:26948701

  4. Cerebral cavernous malformations: from genes to proteins to disease.

    PubMed

    Cavalcanti, Daniel D; Kalani, M Yashar S; Martirosyan, Nikolay L; Eales, Justin; Spetzler, Robert F; Preul, Mark C

    2012-01-01

    Over the past half century molecular biology has led to great advances in our understanding of angio- and vasculogenesis and in the treatment of malformations resulting from these processes gone awry. Given their sporadic and familial distribution, their developmental and pathological link to capillary telangiectasias, and their observed chromosomal abnormalities, cerebral cavernous malformations (CCMs) are regarded as akin to cancerous growths. Although the exact pathological mechanisms involved in the formation of CCMs are still not well understood, the identification of 3 genetic loci has begun to shed light on key developmental pathways involved in CCM pathogenesis. Cavernous malformations can occur sporadically or in an autosomal dominant fashion. Familial forms of CCMs have been attributed to mutations at 3 different loci implicated in regulating important processes such as proliferation and differentiation of angiogenic precursors and members of the apoptotic machinery. These processes are important for the generation, maintenance, and pruning of every vessel in the body. In this review the authors highlight the latest discoveries pertaining to the molecular genetics of CCMs, highlighting potential new therapeutic targets for the treatment of these lesions. PMID:21962164

  5. Advances in ultrasound imaging for congenital malformations during early gestation

    PubMed Central

    Rayburn, William F.; Jolley, Jennifer A.; Simpson, Lynn L.

    2015-01-01

    With refinement in ultrasound technology, detection of fetal structural abnormalities has improved and there have been detailed reports of the natural history and expected outcomes for many anomalies. The ability to either reassure a high-risk woman with normal intrauterine images or offer comprehensive counseling and offer options in cases of strongly suspected lethal or major malformations has shifted prenatal diagnoses to the earliest possible gestational age. When indicated, scans in early gestation are valuable in accurate gestational dating. Stricter sonographic criteria for early nonviability guard against unnecessary intervention. Most birth defects are without known risk factors, and detection of certain malformations is possible in the late first trimester. The best time for a standard complete fetal and placental scan is 18–20 weeks. In addition, certain soft anatomic markers provide clues to chromosomal aneuploidy risk. Maternal obesity and multifetal pregnancies are now more common and further limit early gestation visibility. Other advanced imaging techniques during early gestation in select cases of suspected malformations include fetal echocardiography and magnetic resonance imaging. PMID:25820190

  6. Mitochondrial Factors and VACTERL Association-Related Congenital Malformations

    PubMed Central

    Siebel, S.; Solomon, B.D.

    2013-01-01

    VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malformations. In addition to these other conditions, some of which have known molecular causes, certain aspects of VACTERL/VATER association have similarities with the manifestations of disorders caused by mitochondrial dysfunction. Mitochondrial dysfunction can result from a number of distinct causes and can clinically manifest in diverse presentations; accurate diagnosis can be challenging. Case reports of individuals with VACTERL association and confirmed mitochondrial dysfunction allude to the possibility of mitochondrial involvement in the pathogenesis of VACTERL/VATER association. Further, there is biological plausibility involving mitochondrial dysfunction as a possible etiology related to a diverse group of congenital malformations, including those seen in at least a subset of individuals with VACTERL association. PMID:23653577

  7. Guidelines for the treatment of head and neck venous malformations

    PubMed Central

    Zheng, Jia Wei; Mai, Hua Ming; Zhang, Ling; Wang, Yan An; Fan, Xin Dong; Su, Li Xin; Qin, Zhong Ping; Yang, Yao Wu; Jiang, Yin Hua; Zhao, Yi Fang; Suen, James Y

    2013-01-01

    Venous malformation is one of the most common benign vascular lesions, with approximately 40% of cases appearing in the head and neck. They can affect a patient’s appearance and functionality and even cause life-threatening bleeding or respiratory tract obstruction. The current methods of treatment include surgery, laser therapy, sclerotherapy, or a combined. The treatment of small and superficial venous malformations is relatively simple and effective; however, the treatment of deep and extensive lesions involving multiple anatomical sites remains a challenge for the physicians. For complex cases, the outcomes achieved with one single treatment approach are poor; therefore, individualized treatment modalities must be formulated based on the patient’s condition and the techniques available. Comprehensive multidisciplinary treatments have been adapted to achieve the most effective results. In this paper, based on the national and international literature, we formulated the treatment guidelines for head and neck venous malformations to standardize clinical practice. The guideline will be renewed and updated in a timely manner to reflect cutting-edge knowledge and to provide the best treatment modalities for patients. PMID:23724158

  8. Chiari malformation type I: a new MRI classification.

    PubMed

    Amer, T A; el-Shmam, O M

    1997-01-01

    Thirty patients with Chiari I malformation were examined by MRI over 2-year period. All patients underwent MRI scan before and after surgical decompression of the posterior fossa. Images of the craniocervical junction confirmed tonsillar herniation in all cases and allowed the definition of two anatomically distinct types of Chiari malformation. Twenty-one of the 30 patients (70%) had concomitant syringomyelia and were classified as type A, while the remaining 9 patients (30%) had evidence of frank herniation of the cerebellar tonsils below the foramen magnum without evidence of syringomyelia and were labeled type B. Type A patients had a predominant central cord symptomatology; type B patients exhibited signs and symptoms of brain stem or cerebellar compression. The concomitant cord cavitary lesions (syringomyelia) were noncommunicating (isolated syrinxes), which were separated from the fourth ventricle by a syrinx-free segment of normal spinal cord. Holocord hydromyelic cavities were seen in 8 out of 21 patients with syringomyelia, isolated cervical cavities were seen in 4 patients, while combined cervical and thoracic cavities were seen in 9 patients. Kinking of the medullocervical junction and brain stem was seen in 20 out of 30 patients (67%). MRI has proved to be an excellent, noninvasive means of studying of the craniocervical anatomy; it has allowed a classification of Chiari malformation based on objective anatomic criteria with prognostic and clinical relevance. PMID:9223040

  9. Bill malformations in double-crested cormorants with low exposure to organochlorines

    SciTech Connect

    Kuiken, T.; Fox, G.A.; Danesik, K.L.

    1999-12-01

    Eight of 20 newly hatched double-crested cormorants (Phalacrocorax auritus), captured at Dore Lake (Saskatchewan, Canada) and raised in captivity, developed malformed bills when they were 2 to 3 weeks old. Malformation was characterized by abnormal flexure and rotation of the maxilla and mandible, resulting in a crossed bill. By radiography, the premaxillary and dental bones were misshapen. Morphologically similar malformed bills in free-living comorants have been attributed to exposure to polyhalogenated aromatic hydrocarbons. However, the concentrations of total PCBs in the livers of these captive cormorants with malformed bills and in their diet were lower than have been previously associated with such malformations and were considered too low to have been the cause. The bill malformations may have been caused by deficiency of vitamin D{sub 3}, because the cormorants were kept indoors without exposure to ultraviolet light and were fed frozen fish that may have been deficient in this vitamin.

  10. Autism Spectrum Disorder and Chiari 1 Malformation Co-occurring in a Child.

    PubMed

    Osuagwu, Ferdnand C; Amalraj, Benedict; Noveloso, Bernard D; Aikoye, Salisu A; Bradley, Ronald

    2016-04-01

    Very few studies have shown associations between autism spectrum disorder, attention deficit hyperactivity disorder and Chiari 1 malformation. Here, we report an 10-year-old male that presented after having seizures with a history of Chiari 1 malformation, autism spectrum disorder and ADHD with moderate mental retardation and speech delay. This case highlights the fact that autism spectrum disorder as biologically based neurodevelopmental disorder with altered brain growth may be associated with Chiari 1 malformation and ADHD. PMID:27050897

  11. Umbilical cyst due to patent urachus in a fetus with complete urorectal septum malformation sequence

    PubMed Central

    Kodandapani, Sreelakshmi; Shetty, Jyothi; Kumar, Pratap; Girisha, Katta M.

    2012-01-01

    Urorectal septum malformation sequence is a sporadic malformation due to failure of septation of primitive cloaca with no anal opening. Umbilical cyst can be associated with chromosomal aneuploidy such as trisomy 18 or trisomy 13. We report on a fetus with complete urorectal septum malformation sequence with an umbilical cyst resulting from a patent urachus and with meconium as its content. This report adds to the variety of the causes of umbilical cyst and the spectrum of consequences of urorectal septal defect.

  12. Thoracolumbar spinal vascular malformation as a rare cause of isolated intraventricular hemorrhage.

    PubMed

    Marlin, Evan S; Entwistle, John J; Arnold, Michael A; Pierson, Christopher R; Governale, Lance S

    2014-07-01

    Spinal vascular malformations are rare vascular lesions that most frequently present with back pain, radiculopathy, and/or myelopathy. Neurological decline is typically secondary to progressive radiculopathy, myelopathy, venous thrombosis, and stroke. Few case reports have described thoracolumbar spinal vascular malformations that present with both subarachnoid and intraventricular hemorrhage. This is the first reported case of a thoracolumbar spinal vascular malformation presenting with isolated intraventricular hemorrhage on initial imaging followed by acute and fatal rehemorrhage. PMID:24784978

  13. Fistula of stapes footplate caused by pulsatile cerebrospinal fluid in inner ear malformation.

    PubMed

    Hoppe, F; Hagen, R; Hofmann, E

    1997-01-01

    Congenital malformations of the inner ear are well described, though the combination with cerebrospinal fluid (CSF) leaks remains controversial. In this paper a case of a bilateral Mondini malformation with a CSF otorrhea on one side is reported. The malformed stapes contains a perforation in the middle of the footplate and associated thinning analogous to a pothole in a mountain stream. The histological findings support the hypothesis of pulsatile flow of CSF as origin of the perforation of the footplate. PMID:9166882

  14. Klippel-Trénaunay Syndrome with Intracranial Arteriovenous Malformation: A Rare Presentation

    PubMed Central

    Sadiq, Mahniya F.; Tiwana, Muhammad H.; Johnson, Jamlik-Omari; Khosa, Faisal

    2014-01-01

    Klippel-Trénaunay syndrome (KTS) is a rare vascular congenital anomaly affecting less than 200,000 people in the United States. Vascular malformations associated with KTS tend to affect slow flow systems: venous, capillary, and lymphatic systems. The nature of the syndrome leads to a higher risk for the development of arteriovenous malformations. Our case presentation describes a patient with KTS and an associated rare presentation of intraventricular arteriovenous malformation (AVM). PMID:24653849

  15. The value of fast MR imaging as an adjunct to ultrasound in prenatal diagnosis.

    PubMed

    Breysem, L; Bosmans, H; Dymarkowski, S; Schoubroeck, D Van; Witters, I; Deprest, J; Demaerel, P; Vanbeckevoort, D; Vanhole, C; Casaer, P; Smet, M

    2003-07-01

    The aim of this study was to evaluate the role of MR imaging of the fetus to improve sonographic prenatal diagnosis of congenital anomalies. In 40 fetuses (not consecutive cases) with an abnormality diagnosed with ultrasound, additional MR imaging was performed. The basic sequence was a T2-weighted single-shot half Fourier (HASTE) technique. Head, neck, spinal, thoracic, urogenital, and abdominal fetal pathologies were found. This retrospective, observational study compared MR imaging findings with ultrasonographic findings regarding detection, topography, and etiology of the pathology. The MR findings were evaluated as superior, equal to, or inferior compared with US, in consent with the referring gynecologists. The role of these findings in relation to pregnancy management was studied and compared with postnatal follow-up in 30 of 40 babies. Fetal MRI technique was successful in 36 of 39 examinations and provided additional information in 21 of 40 fetuses (one twin pregnancy with two members to evaluate). More precise anatomy and location of fetal pathology (20 of 40 cases) and additional etiologic information (8 of 40 cases) were substantial advantages in cerebrospinal abnormalities [ventriculomegaly, encephalocele, vein of Galen malformation, callosal malformations, meningo(myelo)cele], in retroperitoneal abnormalities (lymphangioma, renal agenesis, multicystic renal dysplasia), and in neck/thoracic pathology [cervical cystic teratoma, congenital hernia diaphragmatica, congenital cystic adenomatoid lung malformation (CCAM)]. This improved parental counseling and pregnancy management in 15 pregnancies. In 3 cases, prenatal MRI findings did not correlate with prenatal ultrasonographic findings or neonatal diagnosis. The MRI provided a more detailed description and insight into fetal anatomy, pathology, and etiology in the vast majority of these selected cases. This improved prenatal parental counseling and postnatal therapeutic planning. PMID:12695920

  16. Trematode infection causes malformations and population effects in a declining New Zealand fish.

    PubMed

    Kelly, David W; Thomas, Harriet; Thieltges, David W; Poulin, Robert; Tompkins, Daniel M

    2010-03-01

    1. Animal malformations engender wide public and scientific concern because of associated environmental health risks. This is highlighted by increased incidence of limb malformations in amphibians associated with trematode infections and disturbance. Malformations may signal new emerging disease threats, but whether the phenomenon is broadly applicable across taxa, or has population-scale impacts, is unknown. 2. Malformations are widely reported in fish and, until now, have been attributed mainly to contaminants. We tested whether the trematode Telogaster opisthorchis caused severe malformations, leading to population effects, in Galaxias anomalus, a threatened New Zealand freshwater fish. 3. Experimental infection of larval fish caused increasing spinal malformation and mortality with infection intensity that closely matched field patterns. Field malformation frequency peaked in January (65%), before declining sharply in February (25%) and remaining low thereafter. 4. The peak occurred during a 'critical window' of larval development, with the decline coincident with a population crash, indicating that malformation was causing mortality in the field. 5. The occurrence of such critical developmental windows may explain why this mechanism of population impact has been overlooked. With global environmental stressors predicted to enhance trematode infections, our results show that parasite-induced malformation, and its population-scale impacts, could be more widespread than previously considered. PMID:19886894

  17. Major Congenital Malformations in Barbados: The Prevalence, the Pattern, and the Resulting Morbidity and Mortality

    PubMed Central

    Singh, Keerti; Krishnamurthy, Kandamaran; Greaves, Camille; Kandamaran, Latha; Nielsen, Anders L.; Kumar, Alok

    2014-01-01

    Objectives. To study the prevalence and the pattern of major congenital malformations and its contribution to the overall perinatal morbidity and mortality. Methods. It is a retrospective population based study. It includes all major congenital malformations in newborns during 1993-2012. The data was collected from the birth register, the neonatal admission register and the individual patient records at the Queen Elizabeth Hospital where over 90% of deliveries take place and it is the only facility for the care of sick newborns in this country. Results. The overall prevalence of major congenital malformations among the live births was 59/10,000 live births and that among the stillbirths was 399/10,000 stillbirths. Circulatory system was the most commonly affected and accounted for 20% of all the major congenital malformations. Individually, Down syndrome (4.1/10, 000 live births) was the commonest major congenital malformation. There was a significant increase in the overall prevalence during the study period. Major congenital malformations were responsible for 14% of all neonatal death. Conclusions. Less than 1% of all live newborns have major congenital malformations with a preponderance of the malformations of the circulatory system. Major congenital malformations contribute significantly to the overall neonatal morbidity and mortality in this country. PMID:25006483

  18. Congenital multi-organ malformations in a Holstein calf.

    PubMed

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  19. Brain Arteriovenous Malformation Modeling, Pathogenesis and Novel Therapeutic Targets

    PubMed Central

    Chen, Wanqiu; Choi, Eun-Jung; McDougall, Cameron M.; Su, Hua

    2014-01-01

    Patients harboring brain arteriovenous malformation (bAVM) are at life-threatening risk of rupture and intracranial hemorrhage (ICH). The pathogenesis of bAVM has not been completely understood. Current treatment options are invasive and ≈ 20% of patients are not offered interventional therapy because of excessive treatment risk. There are no specific medical therapies to treat bAVMs. The lack of validated animal models has been an obstacle for testing hypotheses of bAVM pathogenesis and testing new therapies. In this review, we summarize bAVM model development; and bAVM pathogenesis and potential therapeutic targets that have been identified during model development. PMID:24723256

  20. The anterior interhemispheric approach to a third ventricular cavernous malformation.

    PubMed

    Martirosyan, Nikolay L; Kalani, M Yashar S; Nakaji, Peter; Spetzler, Robert F

    2016-01-01

    The anterior interhemispheric approach is a workhorse for treatment of lesions in the third ventricle. In this case, we demonstrate the utility of this approach for resecting a complex third ventricular cavernous malformation. We discuss patient positioning, optimal location of the craniotomy, and surgical resection techniques for safe removal of these lesions. We also demonstrate the importance of gravity retraction using the falx to prevent injury to the dominant frontal lobe. The video can be found here: https://youtu.be/38woc28er7M . PMID:26722693

  1. NREM Sleep Parasomnia Associated with Chiari I Malformation

    PubMed Central

    Daftary, Ameet S.; Walker, James M.; Farney, Robert J.

    2011-01-01

    Parasomnias are common sleep disorders in children, and most cases resolve naturally by adolescence.1 They represent arousal disorders beginning in NREM sleep and are generally non-concerning in children. The diagnosis can usually be made by clinical assessment, and testing with polysomnography is not routinely indicated.2 However, in certain cases with atypical features, polysomnography and more extensive neurologic evaluation are medically indicated. Citation: Daftary AS; Walker JM; Farney RJ. NREM Sleep Parasomnia associated with Chiari I malformation. J Clin Sleep Med 2011;7(5):526-529. PMID:22003350

  2. Malformations of cortical development: 3T magnetic resonance imaging features

    PubMed Central

    Battal, Bilal; Ince, Selami; Akgun, Veysel; Kocaoglu, Murat; Ozcan, Emrah; Tasar, Mustafa

    2015-01-01

    Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. PMID:26516429

  3. [The mother figure of children with malformations. A phenomenological study].

    PubMed

    Pinheiro, M C

    1997-01-01

    The theme of this research refers to children suffering congenital malformation through an analysis of their mothers' reactions in dealing with such a situation. It deals with a descriptive study along the qualitative line through the phenomenological approach. In order to attain that purpose, interviews were made and data collected. The analysis was built under the view of meaning, the orientation of those mothers, i.e. the outlook of the world from their perspective, which was tracked from the meanings (units of meaning) to actual sense based on the philosophical insight of Dr. Martin Heidegger, aiming at characterizing the mother-being in her daily life. PMID:9775933

  4. Vascular Integrity in the Pathogenesis of Brain Arteriovenous Malformation

    PubMed Central

    Zhang, Rui; Zhu, Wan

    2015-01-01

    Brain arteriovenous malformation (bAVM) is an important cause of intracranial hemorrhage (ICH), particularly in the young population. ICH is the first clinical symptom in about 50 % of bAVM patients. The vessels in bAVM are fragile and prone to rupture, causing bleeding into the brain. About 30 % of unruptured and non-hemorrhagic bAVMs demonstrate microscopic evidence of hemosiderin in the vascular wall. In bAVM mouse models, vascular mural cell coverage is reduced in the AVM lesion, accompanied by vascular leakage and microhemorrhage. In this review, we discuss possible signaling pathways involved in abnormal vascular development in bAVM. PMID:26463919

  5. Osteopetrosis and Chiari type I malformation: a rare association

    PubMed Central

    Ekici, Mehmet Ali; Cıkla, Ulaş; Bauer, Andrew; Başkaya, Mustafa K.

    2015-01-01

    Osteopetrosis (OP) is hereditary X-linked, autosomal recessive (ARO), or autosomal dominant (ADO) skeletal disease. ARO has two subtypes, which are infantile malignant and intermediate type. ARO and X-linked OP have poor clinical outcome. ADO is called adult benign type because of the normal life expectancy, which has type I and type II. Here, the authors present an ADO patient with Chiari type I. Concomitant ADO with Chiari type I malformation is an extremely rare condition. Literature research yielded only one case report to date. PMID:26503583

  6. Congenital multi-organ malformations in a Holstein calf

    PubMed Central

    Hobbenaghi, Rahim; Dalir-Naghadeh, Bahram; Nazarizadeh, Ali

    2015-01-01

    A 5-day-old female Holstein calf was necropsied because of lethargy, recumbency and anorexia. At necropsy, multiple gross defects were evident in several organs, including unclosed sutures of skull bones, asymmetrical orbits, doming of the skull bones, hydrocephalus, hydranencephaly, cleft palate, brachygnathia, ventricular septal defect, mitral valve dysplasia and rudimentary lungs. On microscopic examination, pulmonary hypoplasia was characterized by reduced number of alveoli, replacement of peri-bronchiolar smooth muscles with connective tissue and small masses of undeveloped cartilage around the small airways. The present report is the first description of the congenital pulmonary hypoplasia accompanied by numerous malformations in Holstein breed. PMID:26893818

  7. Arteriovenous malformation of the penis in an infant.

    PubMed

    Go, S; Tokiwa, K; Imazu, M; Higuchi, K; Iwai, N

    2000-07-01

    Arteriovenous malformations (AVMs) are common benign lesions in infancy, although they are rare in the genitourinary region. The authors report on a 2-year-old boy with a penile AVM. At presentation, there was venous dilatation and tortuosity of the prepuce without ulceration, which had been recognized at 1 year of age. Left internal iliac arteriography showed early venous filling leading to the diagnosis of AVM. Surgical excision was performed at age 2. The postoperative course was uneventful. At the 6-month follow-up, there was no evidence of recurrence. This is the first report of a penile AVM that was successfully treated by surgical excision. PMID:10917314

  8. Delivery by cesarean section after embolization for vaginal arteriovenous malformation.

    PubMed

    Hasegawa, Toru; Yamakawa, Yoshihiro; Ota, Satoshi; Kamei, Tetsuya; Tateno, Masaya

    2008-01-01

    Vaginal arteriovenous malformation (AVM) can lead to life-threatening complications on delivery. No deliveries have been reported after selective embolization for a vaginal AVM. A 34-year-old nulliparous woman was found to have an arterial pulsatile mass on the left vaginal wall. The findings of magnetic resonance imaging and magnetic resonance angiography were consistent with an AVM. Selective transcatheter embolization for the AVM was done and, afterwards, the patient was found to be pregnant. The prenatal course was uneventful and the patient underwent elective cesarean delivery at term. Vaginal AVM can be successfully treated with selective embolization, with a good obstetric outcome. PMID:17671389

  9. Type I Chiari malformation presenting with laryngomalacia and dysphagia.

    PubMed

    Liu, Christopher; Ulualp, Seckin O

    2015-08-01

    We describe clinical features of an infant with laryngomalacia and dysphagia caused by type I Chiari malformation (CM-I). A 12-month-old child presented with a 6 month history of progressive stridor, dysphagia, and gastroesophageal reflux. Examination of the airway and swallowing function indicated mild laryngomalacia and aspiration with all consistencies. Magnetic resonance imaging of the brain indicated CM-I. Symptoms were resolved after posterior fossa decompression. CM-I, typically diagnosed later in life, should be considered in the differential diagnosis of laryngomalacia and dysphagia. High clinical suspicion and thorough search for abnormalities ensure early diagnosis and proper management of children with neurologic variant laryngomalacia. PMID:26031456

  10. ACR Appropriateness Criteria Clinically Suspected Pulmonary Arteriovenous Malformation.

    PubMed

    Hanley, Michael; Ahmed, Osmanuddin; Chandra, Ankur; Gage, Kenneth L; Gerhard-Herman, Marie D; Ginsburg, Michael; Gornik, Heather L; Johnson, Pamela T; Oliva, Isabel B; Ptak, Thomas; Steigner, Michael L; Strax, Richard; Rybicki, Frank J; Dill, Karin E

    2016-07-01

    Pulmonary arteriovenous malformations are often included in the differential diagnosis of common clinical presentations, including hypoxemia, hemoptysis, brain abscesses, and paradoxical stroke, as well as affecting 30% to 50% of patients with hereditary hemorrhagic telangiectasia (HHT). Various imaging studies are used in the diagnostic and screening settings, which have been reviewed by the ACR Appropriateness Criteria Vascular Imaging Panel. Pulmonary arteriovenous malformation screening in patients with HHT is commonly performed with transthoracic echocardiographic bubble study, followed by CT for positive cases. Although transthoracic echocardiographic bubble studies and radionuclide perfusion detect right-to-left shunts, they do not provide all of the information needed for treatment planning and may remain positive after embolization. Pulmonary angiography is appropriate for preintervention planning but not as an initial test. MR angiography has a potential role in younger patients with HHT who may require lifelong surveillance, despite lower spatial resolution compared with CT. The ACR Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed every three years by a multidisciplinary expert panel. The guideline development and review include an extensive analysis of current medical literature from peer-reviewed journals and the application of a well-established consensus methodology (modified Delphi) to rate the appropriateness of imaging and treatment procedures by the panel. In those instances in which evidence is lacking or not definitive, expert opinion may be used to recommend imaging or treatment. PMID:27209598

  11. CHARGE association in Sweden: malformations and functional deficits.

    PubMed

    Strömland, Kerstin; Sjögreen, Lotta; Johansson, Maria; Ekman Joelsson, Britt-Marie; Miller, Marilyn; Danielsson, Susanna; Billstedt, Eva; Gillberg, Christopher; Jacobsson, Catharina; Norinder, Jan Andersson; Granström, Gösta

    2005-03-15

    CHARGE association (CA) consists of a non-random association of ocular coloboma (C), heart anomaly (H), atresia of choanae (A), retarded growth and/or development (R), genital hypoplasia (G), and ear anomalies and/or hearing impairment (E). A prospective multidisciplinary study of 31 Swedish patients with CA was undertaken in order to describe the associated malformations and functional deficits, find possible etiological factors and identify critical time periods for the maldevelopment. The clinical files were analyzed, the mothers answered a questionnaire on history of prenatal events, and a clinical evaluation of systemic findings, vision, hearing, balance, speech, oral and swallowing function, and neuro-psychiatric function, especially autism, was performed. The most frequent physical abnormalities affected ears (90%), eyes (90%), brain (61%), heart (52%), retarded growth (48%), genitals (38%), choanae (35%), and facial nerve (32%). Sixty-one percent of the patients were visually impaired or blind, and 74% had hearing loss or deafness. Problems in balance, speech, and eating were common. Forty percent of the patients had autism/atypical autism, and 82% had developmental delay. Three children were born following assisted fertilization and two mothers had diabetes. The mothers reported infections, bleedings, and drug use during pregnancy. Analysis of possible critical time periods suggested that most malformations were produced early in pregnancy, mainly during post conceptual weeks 4, 5, and 6. A multidisciplinary approach is essential in the assessment and management of CA. PMID:15633180

  12. Post-mortem cytogenomic investigations in patients with congenital malformations.

    PubMed

    Dias, Alexandre Torchio; Zanardo, Évelin Aline; Dutra, Roberta Lelis; Piazzon, Flavia Balbo; Novo-Filho, Gil Monteiro; Montenegro, Marilia Moreira; Nascimento, Amom Mendes; Rocha, Mariana; Madia, Fabricia Andreia Rosa; Costa, Thais Virgínia Moura Machado; Milani, Cintia; Schultz, Regina; Gonçalves, Fernanda Toledo; Fridman, Cintia; Yamamoto, Guilherme Lopes; Bertola, Débora Romeo; Kim, Chong Ae; Kulikowski, Leslie Domenici

    2016-08-01

    Congenital anomalies are the second highest cause of infant deaths, and, in most cases, diagnosis is a challenge. In this study, we characterize patterns of DNA copy number aberrations in different samples of post-mortem tissues from patients with congenital malformations. Twenty-eight patients undergoing autopsy were cytogenomically evaluated using several methods, specifically, Multiplex Ligation-dependent Probe Amplification (MLPA), microsatellite marker analysis with a MiniFiler kit, FISH, a cytogenomic array technique and bidirectional Sanger sequencing, which were performed on samples of different tissues (brain, heart, liver, skin and diaphragm) preserved in RNAlater, in formaldehyde or by paraffin-embedding. The results identified 13 patients with pathogenic copy number variations (CNVs). Of these, eight presented aneuploidies involving chromosomes 13, 18, 21, X and Y (two presented inter- and intra-tissue mosaicism). In addition, other abnormalities were found, including duplication of the TYMS gene (18p11.32); deletion of the CHL1 gene (3p26.3); deletion of the HIC1 gene (17p13.3); and deletion of the TOM1L2 gene (17p11.2). One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations. PMID:27450648

  13. Cardiovascular malformations and organic solvent exposure during pregnancy in Finland

    SciTech Connect

    Tikkanen, J.; Heinonen, O.P.

    1988-01-01

    In order to investigate the possible association between cardiovascular malformations and maternal exposure to organic solvents during the first trimester of pregnancy, 569 cases and 1,052 controls were retrospectively studied. The cases represented all infants with diagnosed cardiovascular malformations born in Finland in 1982-1984, and the controls were randomly selected from all normal births in the country during the same period. All mothers were interviewed approximately 3 months after delivery by a midwife using a structured questionnaire. Exposures to organic solvents at work during the first trimester of pregnancy were slightly more prevalent among the mothers of affected infants (10.4%) than among those of controls (7.8%). Logistic regression analysis of exposure to organic solvents showed an adjusted relative odds ratio of 1.3 (95% confidence interval, 0.8-2.2). In the analysis of ventricular septal defect, exposure to organic solvents showed an adjusted relative odds ratio of 1.5 (95% confidence interval, 1.0-3.7).

  14. Automatic localization of cerebral cortical malformations using fractal analysis

    NASA Astrophysics Data System (ADS)

    De Luca, A.; Arrigoni, F.; Romaniello, R.; Triulzi, F. M.; Peruzzo, D.; Bertoldo, A.

    2016-08-01

    Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity.

  15. Somatic Activating PIK3CA Mutations Cause Venous Malformation.

    PubMed

    Limaye, Nisha; Kangas, Jaakko; Mendola, Antonella; Godfraind, Catherine; Schlögel, Matthieu J; Helaers, Raphael; Eklund, Lauri; Boon, Laurence M; Vikkula, Miikka

    2015-12-01

    Somatic mutations in TEK, the gene encoding endothelial cell tyrosine kinase receptor TIE2, cause more than half of sporadically occurring unifocal venous malformations (VMs). Here, we report that somatic mutations in PIK3CA, the gene encoding the catalytic p110α subunit of PI3K, cause 54% (27 out of 50) of VMs with no detected TEK mutation. The hotspot mutations c.1624G>A, c.1633G>A, and c.3140A>G (p.Glu542Lys, p.Glu545Lys, and p.His1047Arg), frequent in PIK3CA-associated cancers, overgrowth syndromes, and lymphatic malformation (LM), account for >92% of individuals who carry mutations. Like VM-causative mutations in TEK, the PIK3CA mutations cause chronic activation of AKT, dysregulation of certain important angiogenic factors, and abnormal endothelial cell morphology when expressed in human umbilical vein endothelial cells (HUVECs). The p110α-specific inhibitor BYL719 restores all abnormal phenotypes tested, in PIK3CA- as well as TEK-mutant HUVECs, demonstrating that they operate via the same pathogenic pathways. Nevertheless, significant genotype-phenotype correlations in lesion localization and histology are observed between individuals with mutations in PIK3CA versus TEK, pointing to gene-specific effects. PMID:26637981

  16. Diencephalic–mesencephalic junction dysplasia: a novel recessive brain malformation

    PubMed Central

    Saleem, Sahar N.; Dobyns, William B.; Barkovich, A. James; Bartsch, Hauke; Dale, Anders M.; Ashtari, Manzar; Akizu, Naiara; Gleeson, Joseph G.; Grijalvo-Perez, Ana Maria

    2012-01-01

    We describe six cases from three unrelated consanguineous Egyptian families with a novel characteristic brain malformation at the level of the diencephalic–mesencephalic junction. Brain magnetic resonance imaging demonstrated a dysplasia of the diencephalic–mesencephalic junction with a characteristic ‘butterfly’-like contour of the midbrain on axial sections. Additional imaging features included variable degrees of supratentorial ventricular dilatation and hypoplasia to complete agenesis of the corpus callosum. Diffusion tensor imaging showed diffuse hypomyelination and lack of an identifiable corticospinal tract. All patients displayed severe cognitive impairment, post-natal progressive microcephaly, axial hypotonia, spastic quadriparesis and seizures. Autistic features were noted in older cases. Talipes equinovarus, non-obstructive cardiomyopathy and persistent hyperplastic primary vitreous were additional findings in two families. One of the patients required shunting for hydrocephalus; however, this yielded no change in ventricular size suggestive of dysplasia rather than obstruction. We propose the term ‘diencephalic–mesencephalic junction dysplasia’ to characterize this autosomal recessive malformation. PMID:22822038

  17. Clinical, Genetic and Environmental Factors Associated with Congenital Vertebral Malformations

    PubMed Central

    Giampietro, P.F.; Raggio, C.L.; Blank, R.D.; McCarty, C.; Broeckel, U.; Pickart, M.A.

    2013-01-01

    Congenital vertebral malformations (CVM) pose a significant health problem because they can be associated with spinal deformities, such as congenital scoliosis and kyphosis, in addition to various syndromes and other congenital malformations. Additional information remains to be learned regarding the natural history of congenital scoliosis and related health problems. Although significant progress has been made in understanding the process of somite formation, which gives rise to vertebral bodies, there is a wide gap in our understanding of how genetic factors contribute to CVM development. Maternal diabetes during pregnancy most commonly contributes to the occurrence of CVM, followed by other factors such as hypoxia and anticonvulsant medications. This review highlights several emerging clinical issues related to CVM, including pulmonary and orthopedic outcome in congenital scoliosis. Recent breakthroughs in genetics related to gene and environment interactions associated with CVM development are discussed. The Klippel-Feil syndrome which is associated with cervical segmentation abnormalities is illustrated as an example in which animal models, such as the zebrafish, can be utilized to provide functional evidence of pathogenicity of identified mutations. PMID:23653580

  18. Automatic localization of cerebral cortical malformations using fractal analysis.

    PubMed

    De Luca, A; Arrigoni, F; Romaniello, R; Triulzi, F M; Peruzzo, D; Bertoldo, A

    2016-08-21

    Malformations of cortical development (MCDs) encompass a variety of brain disorders affecting the normal development and organization of the brain cortex. The relatively low incidence and the extreme heterogeneity of these disorders hamper the application of classical group level approaches for the detection of lesions. Here, we present a geometrical descriptor for a voxel level analysis based on fractal geometry, then define two similarity measures to detect the lesions at single subject level. The pipeline was applied to 15 normal children and nine pediatric patients affected by MCDs following two criteria, maximum accuracy (WACC) and minimization of false positives (FPR), and proved that our lesion detection algorithm is able to detect and locate abnormalities of the brain cortex with high specificity (WACC  =  85%, FPR  =  96%), sensitivity (WACC  =  83%, FPR  =  63%) and accuracy (WACC  =  85%, FPR  =  90%). The combination of global and local features proves to be effective, making the algorithm suitable for the detection of both focal and diffused malformations. Compared to other existing algorithms, this method shows higher accuracy and sensitivity. PMID:27444964

  19. Cervicofacial Lymphatic Malformations: A Retrospective Review of 40 Cases

    PubMed Central

    Cho, Byung Chae; Kim, Jae Bong; Lee, Jeong Woo; Choi, Kang Young; Yang, Jung Dug; Lee, Seok-Jong; Kim, Yong-Sun; Lee, Jong Min; Huh, Seung

    2016-01-01

    Background Lymphatic malformation (LM) is a form of congenital vascular malformation with a low incidence. Although LM has been studied, no consensus has emerged regarding its cause or treatment. Methods In this study, we retrospectively evaluated 40 patients who visited our vascular anomalies center for the treatment of cervicofacial LM, which is a common manifestation of LM. The medical records of patients over a period of 12 years were reviewed and analyzed for commonalities regarding the diagnosis and the results of treatment. Results Suspected cervicofacial LM was confirmed through imaging studies. No difference in incidence was observed according to sex, and 73% of patients first presented with symptoms before the age of two years. The left side and the V2–V3 area were most commonly affected. No significant differences in incidence were observed among the macrocystic, microcystic, and combined types of LM. A total of 28 out of 36 patients received sclerotherapy as the first choice of treatment, regardless of the type of lesion. Complete resolution was achieved in only 25% of patients. Conclusions LM is important to confirm the diagnosis early and to choose an appropriate treatment strategy according to the stage of the disease and each individual patient's symptoms. When treatment is delayed or an incorrect treatment is administered, patient discomfort increases as the lesion gradually spreads. Therefore, more so than is the case for most other diseases, a team approach on a case-by-case basis is important for the accurate and appropriate treatment of LM. PMID:26848440

  20. Congenital pulmonary airway malformations: from prenatal diagnosis to postnatal outcome.

    PubMed

    Pelizzo, Gloria; Costanzo, Federico; Andreatta, Erika; Calcaterra, Valeria

    2016-08-01

    Congenital pulmonary airway malformations (CPAMs) include cystic and non-cystic lung lesions. These represent about 30-40% of developmental lung bud anomaly lesions mainly diagnosed during pregnancy or in newborn infants; or sometimes they remain undetected until adult life. The malformation usually presents as a sporadic, non-hereditary lung abnormality, with no predilection for the right or left lung, sex or race. CPAMs vary in their histological features, epidemiological and clinical presentation, severity and prognosis, supporting the embryologic hypothesis of arrested lung growth during branching morphogenesis. The existence of "hybrid" forms underline the possible common pathogenic mechanism involved in the development of different lesion types; a genetic role has also been proposed in abnormal lung development. Influence of the natural history on pre and postnatal management is relevant. Surgical resection is the standard of therapy for symptomatic CPAMs, while the management of asymptomatic cases remains controversial. The potential risk of infection and malignancy in CPAMs justifies complete surgical resection in the first year of life; while long term follow-up is required in children who do not undergo surgery. A multidisciplinary team including gynecologists, neonatologists, radiologists, pediatricians and pediatric surgeons is recommended in pre, postnatal management and in the postsurgical follow-up of all children with CPAMs. PMID:26365821

  1. Morphological and functional aspects of progenitors perturbed in cortical malformations

    PubMed Central

    Bizzotto, Sara; Francis, Fiona

    2015-01-01

    In this review, we discuss molecular and cellular mechanisms important for the function of neuronal progenitors during development, revealed by their perturbation in different cortical malformations. We focus on a class of neuronal progenitors, radial glial cells (RGCs), which are renowned for their unique morphological and behavioral characteristics, constituting a key element during the development of the mammalian cerebral cortex. We describe how the particular morphology of these cells is related to their roles in the orchestration of cortical development and their influence on other progenitor types and post-mitotic neurons. Important for disease mechanisms, we overview what is currently known about RGC cellular components, cytoskeletal mechanisms, signaling pathways and cell cycle characteristics, focusing on how defects lead to abnormal development and cortical malformation phenotypes. The multiple recent entry points from human genetics and animal models are contributing to our understanding of this important cell type. Combining data from phenotypes in the mouse reveals molecules which potentially act in common pathways. Going beyond this, we discuss future directions that may provide new data in this expanding area. PMID:25729350

  2. PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

    PubMed Central

    Cigoli, Maria Sole; Avemaria, Francesca; De Benedetti, Stefano; Gesu, Giovanni P.; Accorsi, Lucio Giordano; Parmigiani, Stefano; Corona, Maria Franca; Capra, Valeria; Mosca, Andrea; Giovannini, Simona; Notturno, Francesca; Ciccocioppo, Fausta; Volpi, Lilia; Estienne, Margherita; De Michele, Giuseppe; Antenora, Antonella; Bilo, Leda; Tavoni, Antonietta; Zamponi, Nelia; Alfei, Enrico; Baranello, Giovanni; Riva, Daria; Penco, Silvana

    2014-01-01

    Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is to report additional PDCD10/CCM3 families poorly described so far which account for 10-15% of hereditary cerebral cavernous malformations. Our group investigated 87 consecutive Italian affected individuals (i.e. positive Magnetic Resonance Imaging) with multiple/familial CCM through direct sequencing and Multiplex Ligation-Dependent Probe Amplification (MLPA) analysis. We identified mutations in over 97.7% of cases, and PDCD10/CCM3 accounts for 13.1%. PDCD10/CCM3 molecular screening revealed four already known mutations and four novel ones. The mutated patients show an earlier onset of clinical manifestations as compared to CCM1/CCM2 mutated patients. The study of further families carrying mutations in PDCD10/CCM3 may help define a possible correlation between genotype and phenotype; an accurate clinical follow up of the subjects would help define more precisely whether mutations in PDCD10/CCM3 lead to a characteristic phenotype. PMID:25354366

  3. Leaping lopsided: a review of the current hypotheses regarding etiologies of limb malformations in frogs

    USGS Publications Warehouse

    Loeffler, I.K.; Stocum, D.L.; Fallon, J.F.; Meteyer, C.U.

    2001-01-01

    Recent progress in the investigation of limb malformations in free-living frogs has underlined the wide range in the types of limb malformations and the apparent spatiotemporal clustering of their occurrence. Here, we review the current understanding of normal and abnormal vertebrate limb development and regeneration and discuss some of the molecular events that may bring about limb malformation. Consideration of the differences between limb development and regeneration in amphibians has led us to the hypothesis that some of the observed limb malformations come about through misdirected regeneration. We report the results of a pilot study that supports this hypothesis. In this study, the distal aspect of the right hindlimb buds of X. laevis tadpoles was amputated at the pre-foot paddle stage. The tadpoles were raised in water from a pond in Minnesota at which 7% of surveyed newly metamorphosed feral frogs had malformations. Six percent (6 of 100) of the right limbs of the tadpoles raised in pond water developed abnormally. One truncated right limb was the only malformation in the control group, which was raised in dechlorinated municipal water. All unamputated limbs developed normally in both groups. Three major factors under consideration for effecting the limb malformations are discussed. These factors include environmental chemicals (primarily agrichemicals), encysted larvae (metacercariae) of trematode parasites, and increased levels of ultraviolet light. Emphasis is placed on the necessary intersection of environmental stressors and developmental events to bring about the specific malformations that are observed in free-living frog populations.

  4. Sirenomelia with upper limb malformation: a case report and review of the literature.

    PubMed

    Su, D; Yao, Q

    2015-01-01

    Sirenomelia sequence is a rare lethal pattern of congenital anomalies characterized by fusion of the legs and a variable combination of visceral abnormalities. Some cases accompanied with rare malformations have been reported. In this article, the authors report a case of sirenomelia with upper limb malformations and a review of the literature. PMID:26411229

  5. Arteriovenous malformations of the head and neck: current concepts in management.

    PubMed

    Fowell, Christopher; Jones, Robert; Nishikawa, Hiroshi; Monaghan, Andrew

    2016-06-01

    The field of vascular anomalies and their clinical management is expanding and developments in the last few years have improved the understanding of haemangiomas and vascular malformations. In this paper, the first in the series of 3 educational reviews, we review the current trends and evidence-based management of arteriovenous malformations. PMID:27020371

  6. Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases

    PubMed Central

    Andola, Uma S; AM, Anita; Ahuja, Mukta; Andola, Sainath K

    2012-01-01

    Background Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings. Results Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350- 1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings. PMID:23373038

  7. Thrombosed vascular malformation within the flexor tendon sheath of the index finger in the palm

    PubMed Central

    Schonauer, Fabrizio; Nele, Gisella; La Rusca, Ivan

    2015-01-01

    Vascular malformations are relatively infrequent among benign lesions of the hand. We report the case of an arteriovenous malformation in a 48-year-old white woman presenting a mass in her left hand without any symptoms. The diagnosis was confirmed by histopathology and the lesion completely removed by surgery. PMID:27252973

  8. Isolated sleep apnea due to Chiari type I malformation and syringomyelia.

    PubMed

    Shiihara, T; Shimizu, Y; Mitsui, T; Saitoh, E; Sato, S

    1995-10-01

    We report an 11-year-old girl with Chiari type I malformation and syringomyelia, who experienced isolated sleep apnea without other neurologic problems. Monitoring with oximetry and movement of thoracic and abdominal walls indicated mixed-type sleep apnea. Chiari type I malformation should be differentiated from other disorders causing sleep apnea. PMID:8554669

  9. COMPARING THE EFFECTS OF RETINOIC ACID ON AMPHIBIAN LIMB DEVELOPMENT AND LETHALITY: CHRONIC EXPOSURE RESULTS IN LETHALITY NOT LIMB MALFORMATIONS

    EPA Science Inventory

    Recently, high frequencies of malformations have been reported in amphibians across the United States. It has been suggested that the malformations may be the result of xenobiotic disruption of retinoid signaling pathways during embryogenesis and tadpole development. Therefore, a...

  10. Increased Number of White Matter Lesions in Patients with Familial Cerebral Cavernous Malformations

    PubMed Central

    Golden, Michael J.; Morrison, Leslie A.; Kim, Helen; Hart, Blaine L.

    2015-01-01

    BACKGKROUND AND PURPOSE Familial cerebral cavernous malformations, an autosomal dominant disorder, result in excess morbidity and mortality in affected patients. The disorder is most prevalent in the Southwest United States, where the affected families are most often carriers of the CCM1-KRIT1 Common Hispanic Mutation. The brain and spinal cord parenchyma in these individuals is usually affected by multiple cavernous malformations. Previous studies have shown abnormalities of endothelial cell junctions and the blood-brain barrier in cerebral cavernous malformations. Endothelial cell abnormalities have also been described in pathologic studies of white matter hyperintensities. We compared the prevalence of white matter hyperintensities in a population with known familial cerebral cavernous malformations. MATERIALS AND METHODS We examined 191 subjects with familial cerebral cavernous malformations who were enrolled into an institutional review board-approved study. All carry the same Common Hispanic Mutation in the CCM1 gene. Each subject underwent 3TMR imaging, including gradient recalled-echo, SWI, and FLAIR sequences. The number of cavernous malformations and the number of nonhemorrhagic white matter hyperintensities were counted. Subjects older than 60 yearsof age were excluded due to the high prevalence of white matter lesions in this population, and children younger than 6 were excluded due to potential sedation requirements. Logistic regression analysis was performed to determine the prevalence of abnormal white matter hyperintensities in those with familial cerebral cavernous malformations compared with healthy controls or those with sporadic cerebral cavernous malformation within the familial cerebral cavernous malformations group; it was also performed to evaluate the associations between abnormal white matter hyperintensities and age, sex, headaches, thyroid disease, diabetes, hypertension, hyperlipidemia, seizure history, or modified Rankin Scale score

  11. Chiari type I malformation, syncope, headache, hypoglycemia and hepatic steatosis in an 8-year old girl: a causal association?

    PubMed Central

    Tarani, Luigi; Del Balzo, Francesca; Costantino, Francesco; Properzi, Enrico; D’Eufemia, Patrizia; Liberati, Natascia; Spalice, Alberto

    2010-01-01

    Chiari type I malformation (CMI) is a congenital hindbrain anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Chiari type I malformation often presents with a complex clinical picture and can be sporadic or linked to a variety of genetic conditions. We report on a girl in whom Chiari type I malformation was associated with hypoglycemia, headache, vertigo, syncope and hepatic steatosis. We hypothesize that these symptoms are primarily a consequence of Chiari type I malformation. PMID:21589844

  12. Prevalence of congenital heart disease in patients undergoing surgery for major gastrointestinal malformations: an Indian study

    PubMed Central

    Gokhroo, Rajendra K; Gupta, Sajal; Arora, Garima; Bisht, Devendra S; Padmanabhan, Deepak; Soni, Varsha

    2015-01-01

    Background The association of congenital heart disease (CHD) with malformations of the gastrointestinal (GI) tract/abdominal wall is known. The rates of cardiac malformations reported in previous studies of these anomalies are highly variable. Objective To find the prevalence and pattern of CHD in patients with major gastrointestinal malformations (anorectal malformations, oesophageal atresia/tracheo-oesophageal fistula, and omphalocoele) undergoing surgery at a tertiary care hospital in India. Methods From July 2012 to December 2013, 43 patients (34 (79%) male, 9 (21%) female) were evaluated by clinical examination, ECG, chest radiography, and colour Doppler echocardiography. Results Of the 43 patients, 26 (60.46%) had CHD. The most common GI malformation was anorectal malformation: 32 cases (74.41%), of whom 16 (50%) had CHD. The second most common malformation was oesophageal atresia/tracheo-oesophageal fistula: 5 cases (11.62%), all (100%) with CHD. The third group comprised patients with omphalocoele: 4 cases (9.3%), 3 of whom (75%) had CHD. The fourth group comprised patients with VACTERAL (vertebral anomalies, anal atresia, cardiovascular malformations, tracheo-oesophageal fistula, renal and limb anomalies) association—2 cases (4.6%), all (100%) with CHD. The most common CHD was isolated atrial septal defect (ASD) (73%), followed by ASD + ventricular septal defect (VSD) + patent ductus arteriosus (PDA) (7.6%), ASD + VSD (3.8%), ASD + PDA (3.8%), VSD (3.8%), PDA (3.8%), and coarctation of the aorta (3.8%). Conclusions We found the frequency of CHD in patients with GI malformations was very high, the most common presentation being ASD. Our study indicates the need for larger scale studies to determine the prevalence of CHD in patients with GI malformations in the Indian population. PMID:27326210

  13. Hind limb malformations in free-living northern leopard frogs (Rana pipiens) from Maine, Minnesota, and Vermont suggest multiple etiologies

    USGS Publications Warehouse

    Meteyer, C.U.; Loeffler, I.K.; Fallon, J.F.; Converse, K.A.; Green, E.; Helgen, J.C.; Kersten, S.; Levey, R.; Eaton-Poole, L.; Burkhart, J.G.

    2000-01-01

    Background Reports of malformed frogs have increased throughout the North American continent in recent years. Most of the observed malformations have involved the hind limbs. The goal of this study was to accurately characterize the hind limb malformations in wild frogs as an important step toward understanding the possible etiologies. Methods During 1997 and 1998, 182 recently metamorphosed northern leopard frogs (Rana pipiens) were collected from Minnesota, Vermont, and Maine. Malformed hind limbs were present in 157 (86%) of these frogs, which underwent necropsy and radiographic evaluation at the National Wildlife Health Center. These malformations are described in detail and classified into four major categories: (1) no limb (amelia); (2) multiple limbs or limb elements (polymelia, polydactyly, polyphalangy); (3) reduced limb segments or elements (phocomelia, ectromelia, ectrodactyly, and brachydactyly; and (4) distally complete but malformed limb (bone rotations, bridging, skin webbing, and micromelia). Results Amelia and reduced segments and/or elements were the most common finding. Frogs with bilateral hind limb malformations were not common, and in only eight of these 22 frogs were the malformations symmetrical. Malformations of a given type tended to occur in frogs collected from the same site, but the types of malformations varied widely among all three states, and between study sites within Minnesota. Conclusions Clustering of malformation type suggests that developmental events may produce a variety of phenotypes depending on the timing, sequence, and severity of the environmental insult. Hind limb malformations in free-living frogs transcend current mechanistic explanations of tetrapod limb development.

  14. Low flow venous malformation lesion presented with medial canthal swelling simulating swelling of the lacrimal sac origin: A case report

    PubMed Central

    ALSwaina, Nayef F.; ALSuhaibani, Adel H.

    2015-01-01

    Low flow venous malformation lesions (e.g. cavernous venous malformations) are commonly seen in the orbit and peri-orbital area. Common conditions may present with unexpected presentation. Here we report a 50 years old male patient with low flow venous malformation lesion presented with medial canthal swelling similar to the swelling typically seen in lacrimal sac related pathologies. PMID:26309438

  15. Nasopharyngeal teratoma ('hairy polyp'), Dandy-Walker malformation, diaphragmatic hernia, and other anomalies in a female infant.

    PubMed Central

    Aughton, D J; Sloan, C T; Milad, M P; Huang, T E; Michael, C; Harper, C

    1990-01-01

    Nasopharyngeal teratomas are rare and are infrequently associated with extra-oral malformations. The case of a premature female infant with multiple congenital anomalies, including nasopharyngeal teratoma, Dandy-Walker malformation, diaphragmatic hernia, and congenital heart defect, is presented. This constellation of malformations does not appear to have been reported previously. Images PMID:2074566

  16. Blood flow changes in arteriovenous malformation during behavioral activation.

    PubMed

    Deutsch, G

    1983-01-01

    Striking task-dependent fluctuations were observed in the cerebral blood flow pattern of a patient with a left posterior hemispheric arteriovenous malformation (AVM). Two-dimensional measures of regional cerebral flow in the resting state, using the xenon 133 inhalation technique, revealed a region of high flow coincident with the AVM seen on the patient's arteriograms. In subsequent studies, the AVM stood out as a region of high blood flow during a relaxed state, while it approached normal levels of flow when there was attentional demand. These observations suggest that focal regulatory mechanisms exist at the AVM or else that very substantial redistributions of blood flow are taking place which the flow rate in the AVM reflects only passively. Patients considered for embolic treatment of an AVM would benefit from an assessment of behavioral influences on flow in the AVM. PMID:6830163

  17. Experiences in managing arteriovenous malformations of the head and neck.

    PubMed

    McMillan, Kevin; Dunphy, Louise; Nishikawa, Hiroshi; Monaghan, Andrew

    2016-07-01

    Arteriovenous malformations of the head and neck are difficult to treat and require a multidisciplinary approach. Interventional radiology can now be used to downgrade previously inoperable lesions to enable ablation, and the use of Onyx® (Covidien, Irvine, CA, USA), which has revolutionised their management by allowing precise obliteration of the nidus, has enabled the aggressive management of lesions in compromised anatomical areas. We report a series of 31 patients with lesions on the head and neck. They all presented with serious symptoms (Schobinger grade 2-3) and had embolisation with Onyx®. Some had additional operations. We describe the outcome including complications, and offer some lessons learned from our experience. PMID:27066717

  18. Quantification of intracerebral steal in patients with arteriovenous malformation

    SciTech Connect

    Homan, R.W.; Devous, M.D. Sr.; Stokely, E.M.; Bonte, F.J.

    1986-08-01

    Eleven patients with angiographically and/or pathologically proved arteriovenous malformations (AVMs) were studied using dynamic, single-photon-emission computed tomography (DSPECT). Quantification of regional cerebral blood flow in structurally normal areas remote from the AVM disclosed areas of decreased flow compared with normal controls in eight of 11 patients examined. Areas of hypoperfusion correlated with altered function as manifested by epileptogenic foci and impaired cognitive function. Dynamic, single-photon-emission computed tomography provides a noninvasive technique to monitor quantitatively hemodynamic changes associated with AVMs. Our findings suggest that such changes are present in the majority of patients with AVMs and that they may be clinically significant. The potential application of regional cerebral blood flow imaging by DSPECT in the management of patients with AVMs is discussed.

  19. Treatment of Nystagmus in Brainstem Cavernous Malformation with Botulinum Toxin

    PubMed Central

    Fredrick, Douglas; Steinberg, Gary K; Liao, Yaping J

    2016-01-01

    We report a long-term eye movement study of a 68-year-old female with pontomedullary junction cavernous malformation whose dysconjugate nystagmus was treated with retrobulbar botulinum toxin A injections. Sequential, bilateral retrobulbar injections of botulinum toxin A were performed. Injections immediately decreased oscillopsia and nystagmus, and improved visual acuities. One to three months following injection, three-dimensional infrared oculography measured a significant 39-100% (P = 0.001) decrease in nystagmus amplitudes at multiple dimensions. This improvement diminished by six months in the right eye but sustained for about one year in the left eye. Over two years, botulinum toxin A injections were performed twice in the left eye and five times in the right eye. Our study supported the safe and effective use of repetitive retrobulbar botulinum toxin A injections in symptomatic nystagmus that failed medical therapy. PMID:27182467

  20. A giant frontal cavernous malformation with review of literature

    PubMed Central

    Sharma, Arvind; Mittal, Radhey Shyam

    2016-01-01

    Cavernous malformations (CMs) are vascular anomalies with dilated spaces called caverns. These spaces are lined by endothelial cells and collage and devoid of smooth muscle or intervening neural tissue, and filled with blood at various stages of stasis, thrombosis, organization, and calcification. Most CMs are relatively small in size but when they are large enough they can produce sing of mass effect and may simulate neoplastic, vascular, inflammatory pathology. Giant CM (size >6 cm) are very rare lesions and very few cases are reported in world literature. We are reporting such a rare case of a 16 year male. Our case is also unique in the sense that it is the largest reported CM in Indian population. PMID:27114662

  1. Isolated asymptomatic pulmonary arteriovenous malformation presenting with ischaemic stroke.

    PubMed

    Bertram, Kelly L; Madan, Anoop; Frayne, Judith

    2016-07-01

    Young onset stroke is uncommon, and may be due to conditions other than traditional vascular risk factors. A 42-year-old woman with an ischaemic stroke was found to have left atrial bubble study positivity on transthoracic echocardiogram (TTE) suggestive of patent foramen ovale, however she also had low peripheral oxygen saturation. Investigation revealed an isolated pulmonary arteriovenous malformation (PAVM), visible on admission chest radiograph. This can cause embolic stroke and is an alternate cause of the TTE findings. The PAVM was able to be closed via endovascular intervention, removing the shunt and therefore removing her risk of recurrent stroke events. This is a rare cause of embolic stroke in young people which can be easily missed on investigation yet is amenable to treatment. PMID:26896908

  2. Arteriovenous malformation of the pancreas: a case report.

    PubMed

    Abe, Tsuyoshi; Suzuki, Nobuyasu; Haga, Junichirou; Azami, Ayaka; Todate, Yukitoshi; Waragai, Mitsuru; Sato, Atai; Takano, Yoshinao; Kawakura, Kenji; Imai, Shigeki; Sakuma, Hideo; Teranishi, Yasushi

    2016-12-01

    Arteriovenous malformation (AVM) of the pancreas is uncommon in the gastrointestinal tract. We present a case of AVM of the pancreatic head in a 59-year-old male. He was admitted to a hospital with hematemesis and tarry stool and referred to our hospital in March 2014 on the diagnosis of pancreatic artery pseudoaneurysm. A computed tomography scan showed the presence of irregular dilated and/or stenotic vessels with meandering in the pancreatic head. Magnetic resonance imaging showed strong enhancement of the conglomeration in the pancreatic head. Selective angiography showed the proliferation of a vascular network in the pancreatic head and an early visualization of the portal vein at the arterial phase. The patient qualified for surgery with a preoperative diagnosis of AVM of the pancreatic head. We performed pylorus-preserving pancreaticoduodenectomy. The histological results confirmed the presence of irregular dilated tortuous arteries and veins in the pancreatic head. Surgical treatment may represent definitive management of symptomatic AVM. PMID:26943682

  3. Histopathological Features of Brain Arteriovenous Malformations in Japanese Patients.

    PubMed

    Hermanto, Yulius; Takagi, Yasushi; Yoshida, Kazumichi; Ishii, Akira; Kikuchi, Takayuki; Funaki, Takeshi; Mineharu, Yohei; Miyamoto, Susumu

    2016-06-15

    Clinical features of high risk brain arteriovenous malformations (BAVMs) are well characterized. However, pathological evidences about the differences that are possessed by high risk patients are still lacking. We reviewed archived routine hematoxylin-eosin specimens from a total of 54 surgical treated BAVMs. The histopathological features in nidus were semi-quantitatively analyzed. We obtained the pathological differences of BAVMs nidus between several clinical features. Among the analyzed pathological features, the significant differences were observed in degree of venous enlargement and intimal hyperplasia. Juvenile, female, diffuse nidus, high Spetzler-Martin grade, and low flow patients had a lesser degree of those parameters compared to adult, male, compact nidus, low Spetzler-Martin grade and high flow patients. High risk profiles of BAVMs patients were well-reflected in the nidus pathology. Therefore, juvenile, female, diffuse nidus, and low flow in Japanese BAVMs patients might have different vascular remodeling process that predispose to higher tendency of hemorrhage. PMID:27053330

  4. Staged-volume radiosurgery for large arteriovenous malformations: a review.

    PubMed

    AlKhalili, Kenan; Chalouhi, Nohra; Tjoumakaris, Stavropoula; Rosenwasser, Robert; Jabbour, Pascal

    2014-09-01

    Stereotactic radiosurgery is an effective management strategy for properly selected patients with arteriovenous malformations (AVMs). However, the risk of postradiosurgical radiation-related injury is higher in patients with large AVMs. Multistaged volumetric management of large AVMs was undertaken to limit the radiation exposure to the surrounding normal brain. This strategy offers a promising method for obtaining high AVM obliteration rates with minimal normal tissue damage. The use of embolization as an adjunctive method in the treatment of large AVMs remains controversial. Unfortunately, staged-volume radiosurgery (SVR) has a number of potential pitfalls that affect the outcome. The aim of this article is to highlight the role of SVR in the treatment of large AVMs, to discuss the outcome comparing it to other treatment modalities, and to discuss the potential improvement that could be introduced to this method of treatment. PMID:25175440

  5. Intramedullary cavernous malformation of the spinal cord in two dogs.

    PubMed

    MacKillop, E; Olby, N J; Linder, K E; Brown, T T

    2007-07-01

    Intramedullary cavernous malformations (CVMs) of the spinal cord were diagnosed in 2 adult dogs that presented for paraparesis. An intramedullary spinal cord lesion was identified on a myelogram in the first dog, and expansion of the vertebral canal was evident on radiographs in the second. Extensive intraparenchymal hemorrhage was found on gross postmortem examination in both dogs, and a distinct lobulated intramedullary mass was evident in the second dog. Microscopically, both lesions were composed of dilated, thin-walled vascular channels with little-to-no intervening neural parenchyma. Both dogs had evidence of channel thrombosis along with perilesional hemorrhage and hemosiderin accumulation. The second dog had additional degenerative changes, including thickened fibrous channel walls with hyalinization, foci of mineralization, and occasional tongues of entrapped gliotic neuropil. CVMs appear to be an uncommon cause of both acute and chronic spinal cord disease in the dog. PMID:17606517

  6. Type II congenital pulmonary airway malformation in an esophageal lung

    PubMed Central

    Martínez-Martínez, Blanca Estela; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

    2013-01-01

    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung. PMID:23762890

  7. Aborting a malformed fetus: a debatable issue in saudi arabia.

    PubMed

    Al-Alaiyan, Saleh; Alfaleh, Khalid M

    2012-01-01

    Congenital anomalies contribute a significant proportion of infant morbidity and mortality, as well as fetal mortality. They are generally grouped into three major categories: structural/metabolic, congenital infections, and other conditions. The most prevalent conditions include congenital heart defects, orofacial clefts, Down syndrome, and neural tube defects. Several prenatal diagnostic procedures have been introduced, both cytogenetic (such as chorion biopsy, amniocentesis and funiculocentesis) and biophysical (ultrasound 2-D, 3-D and 4-D, ultrasonography with Doppler, etc.). Insufficient data are currently available from Saudi Arabia on the epidemiology of the lethal congenital abnormalities which should be a priority due to high rate of consanguineous marriages among first cousins and their association with congenital anomalies. In terms of consanguinity and birth defects, a significant positive association has been consistently demonstrated between consanguinity and morbidity, and congenital defects with a complex etiology appear to be both more prevalent in consanguineous families and have a greater likelihood of recurrence. A debate regarding aborting a malformed fetus still exists among the senior Islamic scholars in many of the Islamic countries. The progressive interpretations of Islam have resulted in laws allowing for early abortion on request in two countries; six others permit abortion on health grounds and three more also allow abortion in cases of rape or fetal impairment. In Saudi Arabia, efforts to legalize abortion in certain circumstances have been recently discussed among Senior Religious Scholars and specialized physicians to permit abortions in certain circumstances. In this mini-review we discuss the current debate regarding aborting a malformed fetus in Saudi Arabia with a focus on the Islamic perspective. PMID:24027674

  8. Defective autophagy is a key feature of cerebral cavernous malformations

    PubMed Central

    Marchi, Saverio; Corricelli, Mariangela; Trapani, Eliana; Bravi, Luca; Pittaro, Alessandra; Delle Monache, Simona; Ferroni, Letizia; Patergnani, Simone; Missiroli, Sonia; Goitre, Luca; Trabalzini, Lorenza; Rimessi, Alessandro; Giorgi, Carlotta; Zavan, Barbara; Cassoni, Paola; Dejana, Elisabetta; Retta, Saverio Francesco; Pinton, Paolo

    2015-01-01

    Cerebral cavernous malformation (CCM) is a major cerebrovascular disease affecting approximately 0.3–0.5% of the population and is characterized by enlarged and leaky capillaries that predispose to seizures, focal neurological deficits, and fatal intracerebral hemorrhages. Cerebral cavernous malformation is a genetic disease that may arise sporadically or be inherited as an autosomal dominant condition with incomplete penetrance and variable expressivity. Causative loss-of-function mutations have been identified in three genes, KRIT1 (CCM1), CCM2 (MGC4607), and PDCD10 (CCM3), which occur in both sporadic and familial forms. Autophagy is a bulk degradation process that maintains intracellular homeostasis and that plays essential quality control functions within the cell. Indeed, several studies have identified the association between dysregulated autophagy and different human diseases. Here, we show that the ablation of the KRIT1 gene strongly suppresses autophagy, leading to the aberrant accumulation of the autophagy adaptor p62/SQSTM1, defective quality control systems, and increased intracellular stress. KRIT1 loss-of-function activates the mTOR-ULK1 pathway, which is a master regulator of autophagy, and treatment with mTOR inhibitors rescues some of the mole-cular and cellular phenotypes associated with CCM. Insufficient autophagy is also evident in CCM2-silenced human endothelial cells and in both cells and tissues from an endothelial-specific CCM3-knockout mouse model, as well as in human CCM lesions. Furthermore, defective autophagy is highly correlated to endothelial-to-mesenchymal transition, a crucial event that contributes to CCM progression. Taken together, our data point to a key role for defective autophagy in CCM disease pathogenesis, thus providing a novel framework for the development of new pharmacological strategies to prevent or reverse adverse clinical outcomes of CCM lesions. PMID:26417067

  9. Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.

    PubMed

    Lin, A E; Birch, P H; Korf, B R; Tenconi, R; Niimura, M; Poyhonen, M; Armfield Uhas, K; Sigorini, M; Virdis, R; Romano, C; Bonioli, E; Wolkenstein, P; Pivnick, E K; Lawrence, M; Friedman, J M

    2000-11-13

    Although it is well recognized that a peripheral vasculopathy may occur in patients with neurofibromatosis 1 (NF1), it is unclear whether cardiovascular abnormalities are more common. We reviewed the frequency of cardiovascular abnormalities, in particular, cardiovascular malformations (CVMs), among 2322 patients with definite NF1 in the National Neurofibromatosis Foundation International Database from 1991-98. Cardiovascular malformations were reported in 54/2322 (2.3%) of the NF1 patients, only 4 of whom had Watson syndrome or NF1-Noonan syndrome. There was a predominance of Class II "flow" defects [Clark, 1995: Moss and Adams' Heart Disease in Infants, Children, and Adolescents Including the Fetus and Young Adult. p 60-70] (43/54, 80%) among the NF1 patients with CVMs. Pulmonic stenosis, that was present in 25 NF1 patients, and aortic coarctation, that occurred in 5, constitute much larger proportions of all CVMs than expected. Of interest was the paucity of Class I conotruncal defects (2 patients with tetralogy of Fallot), and the absence of atrioventricular canal, anomalous pulmonary venous return, complex single ventricle and laterality defects. Besides the 54 patients with CVMs, there were 27 patients with other cardiac abnormalities (16 with murmur, 5 with mitral valve prolapse, 1 with intracardiac tumor, and 5 with electrocardiogram abnormalities). No patient in this study had hypertrophic cardiomyopathy. There were 16 patients who had a peripheral vascular abnormality without an intracardiac CVM, plus an additional 4 patients among those with a CVM who also had a peripheral vascular abnormality. PMID:11078559

  10. Spag17 Deficiency Results in Skeletal Malformations and Bone Abnormalities

    PubMed Central

    Teves, Maria Eugenia; Sundaresan, Gobalakrishnan; Cohen, David J.; Hyzy, Sharon L.; Kajan, Illya; Maczis, Melissa; Zhang, Zhibing; Costanzo, Richard M.; Zweit, Jamal; Schwartz, Zvi; Boyan, Barbara D.; Strauss, Jerome F.

    2015-01-01

    Height is the result of many growth and development processes. Most of the genes associated with height are known to play a role in skeletal development. Single-nucleotide polymorphisms in the SPAG17 gene have been associated with human height. However, it is not clear how this gene influences linear growth. Here we show that a targeted mutation in Spag17 leads to skeletal malformations. Hind limb length in mutants was significantly shorter than in wild-type mice. Studies revealed differences in maturation of femur and tibia suggesting alterations in limb patterning. Morphometric studies showed increased bone formation evidenced by increased trabecular bone area and the ratio of bone area to total area, leading to reductions in the ratio of marrow area/total area in the femur. Micro-CTs and von Kossa staining demonstrated increased mineral in the femur. Moreover, osteocalcin and osterix were more highly expressed in mutant mice than in wild-type mice femurs. These data suggest that femur bone shortening may be due to premature ossification. On the other hand, tibias appear to be shorter due to a delay in cartilage and bone development. Morphometric studies showed reduction in growth plate and bone formation. These defects did not affect bone mineralization, although the volume of primary bone and levels of osteocalcin and osterix were higher. Other skeletal malformations were observed including fused sternebrae, reduced mineralization in the skull, medial and metacarpal phalanges. Primary cilia from chondrocytes, osteoblasts, and embryonic fibroblasts (MEFs) isolated from knockout mice were shorter and fewer cells had primary cilia in comparison to cells from wild-type mice. In addition, Spag17 knockdown in wild-type MEFs by Spag17 siRNA duplex reproduced the shorter primary cilia phenotype. Our findings disclosed unexpected functions for Spag17 in the regulation of skeletal growth and mineralization, perhaps because of its role in primary cilia of chondrocytes and

  11. Spag17 deficiency results in skeletal malformations and bone abnormalities.

    PubMed

    Teves, Maria Eugenia; Sundaresan, Gobalakrishnan; Cohen, David J; Hyzy, Sharon L; Kajan, Illya; Maczis, Melissa; Zhang, Zhibing; Costanzo, Richard M; Zweit, Jamal; Schwartz, Zvi; Boyan, Barbara D; Strauss, Jerome F

    2015-01-01

    Height is the result of many growth and development processes. Most of the genes associated with height are known to play a role in skeletal development. Single-nucleotide polymorphisms in the SPAG17 gene have been associated with human height. However, it is not clear how this gene influences linear growth. Here we show that a targeted mutation in Spag17 leads to skeletal malformations. Hind limb length in mutants was significantly shorter than in wild-type mice. Studies revealed differences in maturation of femur and tibia suggesting alterations in limb patterning. Morphometric studies showed increased bone formation evidenced by increased trabecular bone area and the ratio of bone area to total area, leading to reductions in the ratio of marrow area/total area in the femur. Micro-CTs and von Kossa staining demonstrated increased mineral in the femur. Moreover, osteocalcin and osterix were more highly expressed in mutant mice than in wild-type mice femurs. These data suggest that femur bone shortening may be due to premature ossification. On the other hand, tibias appear to be shorter due to a delay in cartilage and bone development. Morphometric studies showed reduction in growth plate and bone formation. These defects did not affect bone mineralization, although the volume of primary bone and levels of osteocalcin and osterix were higher. Other skeletal malformations were observed including fused sternebrae, reduced mineralization in the skull, medial and metacarpal phalanges. Primary cilia from chondrocytes, osteoblasts, and embryonic fibroblasts (MEFs) isolated from knockout mice were shorter and fewer cells had primary cilia in comparison to cells from wild-type mice. In addition, Spag17 knockdown in wild-type MEFs by Spag17 siRNA duplex reproduced the shorter primary cilia phenotype. Our findings disclosed unexpected functions for Spag17 in the regulation of skeletal growth and mineralization, perhaps because of its role in primary cilia of chondrocytes and

  12. Stereotactic proton beam therapy for intracranial arteriovenous malformations

    SciTech Connect

    Vernimmen, Frederik J.A.I. . E-mail: fv@sun.ac.za; Slabbert, Jacobus P.; Wilson, Jennifer A.; Fredericks, Shaheeda

    2005-05-01

    Purpose: To investigate hypofractionated stereotactic proton therapy of predominantly large intracranial arteriovenous malformations (AVMs) by analyzing retrospectively the results from a cohort of patients. Methods and Materials: Since 1993, a total of 85 patients with vascular lesions have been treated. Of those, 64 patients fulfilled the criteria of having an arteriovenous malformation and sufficient follow-up. The AVMs were grouped by volume: <14 cc (26 patients) and {>=}14 cc (38 patients). Treatment was delivered with a fixed horizontal 200 MeV proton beam under stereotactic conditions, using a stereophotogrammetric positioning system. The majority of patients were hypofractionated (2 or 3 fractions), and the proton doses are presented as single-fraction equivalent cobalt Gray equivalent doses (SFEcGyE). The overall mean minimum target volume dose was 17.37 SFEcGyE, ranging from 10.38-22.05 SFEcGyE. Results: Analysis by volume group showed obliteration in 67% for volumes <14 cc and 43% for volumes {>=}14 cc. Grade IV acute complications were observed in 3% of patients. Transient delayed effects were seen in 15 patients (23%), becoming permanent in 3 patients. One patient also developed a cyst 8 years after therapy. Conclusions: Stereotactic proton beam therapy applied in a hypofractionated schedule allows for the safe treatment of large AVMs, with acceptable results. It is an alternative to other treatment strategies for large AVMs. AVMs are likely not static entities, but probably undergo vascular remodeling. Factors influencing angiogenesis could play a new role in a form of adjuvant therapy to improve on the radiosurgical results.

  13. Pulmonary Malformations: Predictors of Neonatal Respiratory Distress and Early Surgery

    PubMed Central

    Costanzo, Sara; Filisetti, Claudia; Vella, Claudio; Rustico, Mariangela; Fontana, Paola; Lista, Gianluca; Zirpoli, Salvatore; Napolitano, Marcello; Riccipetitoni, Giovanna

    2016-01-01

    Objectives: The objective of our study is to retrospectively analyze a single-centre series of antenatally detected pulmonary malformations (PM) and to evaluate their postnatal outcome. Materials and Methods: We retrospectively reviewed all prenatally diagnosed PM patients referred to our Centre in the period between January 1999 and December 2014. All cases were diagnosed by one of our Maternal-Fetal Specialists by US examination. Congenital pulmonary airway malformation (CPAM) volume ratio (CVR), development of fetal complications, need for fetal therapy, need for neonatal resuscitation and timing of surgery were analyzed. Results: A total of 70 fetuses were diagnosed with a PM in the period of study. An initial CVR higher than 1.6 was found in 16/70 patients (22.8%); 14/16 developed fetal complications (p less than .0001). Fifty-six fetuses (80%) did not develop any complications during pregnancy. To all complicated cases a prenatal treatment was offered, carried out in 12 (1 termination, 1 refusal). Survival rate was 100%. Sixty-three fetuses (90%) were asymptomatic at birth and did not require any neonatal resuscitation. Six patients submitted to fetal therapy and one untreated presented with neonatal respiratory distress, required mechanical ventilation at birth and early surgery in the neonatal period (7/70, 10%). Conclusion: CVR > 1.6 and the presence of fetal complications can be considered as predictors of respiratory distress at birth and of the need for early surgery. Nevertheless, the vast majority of PM are asymptomatic at birth and only a small group of fetuses require prenatal and postnatal treatment and support. PMID:27458568

  14. The influence of the birth of a malformed child on the mother's further reproduction.

    PubMed Central

    Record, R G; Armstrong, E

    1975-01-01

    Births which occurred in Birmingham in 1964-70 were assembled into fraternities by computer linkage. By calculating the frequency with which one birth was followed by another and the interval between births the reproductive behavior of mothers after the birth of a malformed child was compared with that of all mothers, taking account of differences in maternal age, parity, and period of observation. It was found that malformations which resulted in stillbirth or early death were more frequently followed by another birth and that the interval to the following birth was shorter than usual. In this respect malformations did not differ in their effect from other causes of stillbirth and infant death. The birth of children were severe malformations who survived, however, acted as a slight deterrent to further reproduction. The malformation rate among children born after a malformation was double the usual rate; the recurrence rate was particularly high for neural tube defects, 5% of subsequent children being affected. In spite of this parents of children with central nervous system malformations were not deterred from further reproduction unless the affected child survived. PMID:1220838

  15. Prevalence of malformed frogs in Kaoping and Tungkang river basins of southern Taiwan.

    PubMed

    Huang, Da-Ji; Chiu, Yuh-Wen; Chen, Chien-Min; Huang, Kai-Hsiang; Wang, Shu-Yin

    2010-05-01

    In this study we found many amphibians with bizarre appearances, known as malformations in Pingtung County southern Taiwan. For this investigation we collected frogs inhabiting the Kaoping and Tungkang river watersheds between February 2006 and June 2007. Among the total number of 10,909 normal frogs (i.e., anurans) collected during the investigation period, the Indian rice frogs (Rana limnocharis) account for the greatest number next is the Chinese bullfrog (Rana rugulosa). Of all the 244 captured malformed frogs, the Indian rice frog account for the greatest proportion. These malformed frogs have their main distribution in upstream areas of these two rivers. Our result indicates that the appearance rate of malformed frogs is 1.8% in the upstream reaches of the Kaoping River and 2.6%, and 0.8%, respectively in the upstream and midstream reaches of the Tungkang river. The most-commonly-found malformation is the lack of palms, followed by the lack of appendages, exostosis, and a malformed appendicular. It is, therefore, reasonable to speculate that the causes for the malformation may be related to the increased organic pollutants and agricultural chemicals used in the upstream reaches of these two rivers. PMID:21047008

  16. Intralesional bleomycin injection in management of low flow vascular malformations in children.

    PubMed

    Mohan, Anita T; Adams, Saleigh; Adams, Kevin; Hudson, Donald A

    2015-04-01

    Low flow vascular malformations are challenging to manage, particularly with their propensity to grow, and can lead to severe disfigurement and dysfunction. Traditional surgical excision is fraught with tedious dissection and complications, particularly in the head and neck region. Trends toward less invasive techniques, such as intralesional sclerotherapy, are proving to be successful independent treatments or adjuncts in management in low flow vascular malformations. This study was a retrospective case note review, over an 8-year period, reporting the outcomes of 32 children (mean = 5.8 years, range = 5 months-11.5 years) with radiologically confirmed low flow vascular malformations, treated with serial intralesional bleomycin injection (IBI) therapy. Patient demographics, lesion characteristics, imaging findings, treatment course, radiological and clinical response to treatment were recorded. An overall 91% (n = 29) response rate was achieved, with 28% obtaining complete resolution for low flow vascular malformations. Lesions were sub-categorized into venous malformation, including mixed venous-capillary (n = 27) or lymphatic malformation (LM) (n = 5). Twenty-seven of 32 children experienced no complications. Local complications included superficial skin infection (n = 2), skin necrosis (n = 1), hyperpigmentation, and minor contour deformity. There was no recurrence and no systemic side-effects to bleomycin. Mean follow-up was 38 months (range = 6-95 months). In conclusion, serial intralesional bleomycin injections can be effective and also safe in a paediatric population for the successful management of symptomatic or disfiguring low flow vascular malformations. PMID:25204206

  17. Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations

    PubMed Central

    Ghebranious, Nader; Raggio, Cathleen L; Blank, Robert D; McPherson, Elizabeth; Burmester, James K; Ivacic, Lynn; Rasmussen, Kristen; Kislow, Jennifer; Glurich, Ingrid; Jacobsen, F Stig; Faciszewski, Thomas; Pauli, Richard M; Boachie-Adjei, Oheneba; Giampietro, Philip F

    2007-01-01

    Background Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporadic occurrence, linkage approaches to identify genes associated with human vertebral development are not feasible. We hypothesized that WNT3A mutations might account for a subset of congenital vertebral malformations. Methods A pilot study was performed using a cohort of patients with congenital vertebral malformations spanning the entire vertebral column was characterized. DNA sequence analysis of the WNT3A gene in these 50 patients with congenital vertebral malformations was performed. Results A female patient of African ancestry with congenital scoliosis and a T12-L1 hemivertebrae was found to be heterozygous for a missense variant resulting in the substitution of alanine by threonine at codon 134 in highly conserved exon 3 of the WNT3A gene. This variant was found at a very low prevalence (0.35%) in a control population of 443 anonymized subjects and 1.1% in an African population. Conclusion These data suggest that WNT3A does not contribute towards the development of congenital vertebral malformations. Factors such as phenotypic and genetic heterogeneity may underlie our inability to detect mutations in WNT3A in our patient sample. PMID:17888180

  18. Severe holocord syrinx in a child with megalencephaly-capillary malformation syndrome.

    PubMed

    Segal, Devorah; Heary, Robert F; Sabharwal, Sanjeev; Barry, Maureen T; Ming, Xue

    2016-07-01

    The authors present the case of a child with megalencephaly-capillary malformation syndrome who developed a rapidly progressive holocord syringomyelia that was treated surgically. A 3-year-old boy with megalencephaly-capillary malformation-polymicrogyria (MCAP) syndrome presented with several months of right leg weakness, worsening scoliosis, and increased seizures. An MRI study of the brain demonstrated a Chiari I malformation and massively dilated syringomyelia extending from C-2 to the conus medullaris. The patient underwent an urgent suboccipital craniectomy with C1-3 laminectomies to relieve the CSF outflow obstruction with significant clinical improvement. Surgery was complicated by bleeding from intracranial vascular malformations. This report describes a very rapidly developing, massive holocord syringomyelia related to CSF obstruction due to an unusual congenital brain malformation and associated vascular overgrowth at the site. Serial, premorbid MRI studies demonstrated the very rapid progression from no Chiari malformation, to progressively greater cerebellar tonsillar herniation, to holocord syrinx. This complication has never been reported in MCAP syndrome and should be considered in any affected MCAP patient with a progressive neurological decline, even if previous spine imaging findings were normal. Surgical complications due to hemorrhage also need to be considered in this vascular brain malformation. PMID:27035547

  19. Clinical syndromes of arteriovenous malformations of the transverse-sigmoid sinus.

    PubMed Central

    Obrador, S; Soto, M; Silvela, J

    1975-01-01

    Arteriovenous malformations or fistulae shunting arterial blood from branches of the external and internal carotid and vertebral arteries into the transverse-sigmoid sinus may produce different clinical syndromes. The literature is reviewed with 96 patients including six personal cases. Usually these malformations have a congenital origin and only in 4% of the series was there a previous history of a severe head injury. Clinical groups are defined and the role of angiography assessed. Direct surgical approach with occlusion or removal of the vascular malformation is the treatment of choice. Possible methods of treatment by selective embolization are discussed. Images PMID:1097602

  20. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series.

    PubMed

    Niwa, Tetsu; de Vries, Linda S; Manten, Gwendolyn T R; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko

    2016-04-01

    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD: two infants with nodular interhemispheric lipoma, agenesis of the corpus callosum, and polymicrogyria, and one infant with interhemispheric curvilinear lipoma, hypoplasia of the corpus callosum, and heterotopias. An association was suggested regarding the occurrence of these malformations. PMID:26808679

  1. Utility of (99m)Tc RBC Scintigraphy in Diagnosing Parotid Venous Malformations.

    PubMed

    Patel, Rosan; Saad, Hannan; Srinivasan, Ashok; Brown, Richard K J

    2015-07-01

    Venous malformations of the parotid glands are uncommon and can be difficult to confirm on routine anatomical imaging alone because of overlap of imaging features with other more common parotid lesions. (99m)Tc RBC scans combined with SPECT/CT offer a noninvasive way to diagnose parotid venous malformations without the need for biopsy. Combined with anatomical findings of phleboliths (when present), the diagnosis can be reliably determined. We present a case where MRI and biopsy were inconclusive, but the SPECT/CT was used to confirm the suspicion of a benign venous malformation. PMID:26018710

  2. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia

    PubMed Central

    Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

    2016-01-01

    Abstract SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain. We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated. PMID:27149441

  3. Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

    SciTech Connect

    McCafferty, Ian

    2015-10-15

    This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques.

  4. Mandibular Body Resection and Setback for Severe Malocclusion in Lymphatic Malformations.

    PubMed

    Bjorklund, Kim A; Billmire, David A

    2016-05-01

    Extensive lymphangiomas of the facial skeleton result in deforming forces leading to ongoing masticatory, speech, oral hygiene, and airway problems. This paper presents a small series of patients with severe mandibular overgrowth secondary to lymphatic malformations. Following debulking of the malformations and tongue reductions, the authors describe the results of their treatment with bilateral mandibular body resections and setback. The authors' results suggest that severe functional impairment from deforming malformations can be addressed in childhood with orthognathic surgery. Improved occlusion, oral closure, and airway opening can be achieved using this procedure. PMID:27100638

  5. Treatment of Syringomyelia due to Chiari Type I Malformation with Syringo-Subarachnoid-Peritoneal Shunt

    PubMed Central

    Akakın, Akın; Yılmaz, Baran; Kılıç, Türker

    2015-01-01

    Chiari type I malformation is a tonsillar herniation more than 3 mm from the level of foramen magnum, with or without concurrent syringomyelia. Different surgical treatments have been developed for syringomyelia secondary to Chiari's malformations: craniovertebral decompression with or without plugging of the obex, syringo-subarachnoid, syringo-peritoneal, and theco-peritoneal shunt placement. Shunt placement procedures are useful for neurologically symptomatic large-sized syrinx. In this paper, authors define the first successful treatment of a patient with syringomyelia due to Chiari type I malformation using a pre-defined new technique of syringo-subarachnoid-peritoneal shunt with T-tube system. PMID:25932303

  6. Hypofractionated stereotactic radiosurgery for treatment of cerebral arteriovenous malformations: outcome analysis with use of the modified arteriovenous malformation scoring system.

    PubMed

    Chen, Joseph C T; Mariscal, Luis; Girvigian, Michael R; Vanefsky, Marc A; Glousman, Brandon N; Miller, Michael J; Feng, Lei; Rahimian, Javad

    2016-07-01

    Radiosurgery has long been an accepted modality for definitive treatment of cerebral arteriovenous malformations (AVM). Efforts to improve the therapeutic ratio for this indication include use of staged volume procedures and hypofractionation. This study reviews our experience with a cohort of patients treated with hypofractionated radiosurgery. Over a 3year period, 38 patients harboring 39 cerebral AVM were treated with hypofractionated stereotactic radiotherapy. Seventeen of these patients presented due to hemorrhage, four were asymptomatic unruptured lesions and the remainder were symptomatic unruptured lesions. The median AVM volume was 11.43 cc and median modified Radiosurgery-Based Arteriovenous Malformation Score (mRBAS) was 2.02. The median follow-up was 7.32years. Four patients harboring four AVM were lost to follow-up before a result could be ascertained leaving 35 AVM for analysis. Excellent outcomes (AVM obliteration without new deficits) occurred in 17 of 34 (50%) patients and in 18 of 35 (51%) AVM treated. AVM obliteration was seen in 26 of 35 (74%) lesions treated. Two patients died during the follow-up period (6%). A poor result (major deficit without obliteration) was seen in one patient. Of 19 patients harboring AVM with mRBAS >2.0, an excellent outcome was achieved in eight (42%). Hypofractionation for cerebral AVM can result in satisfactory obliteration rates, but with risk of significant complications commensurate with mRBAS. Further study of this technique will be needed to ascertain the degree of incremental improvement, if any, over other radiosurgery treatment methods. PMID:26947340

  7. Peripheral embolization of diffuse hepatic arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia.

    PubMed

    Derauf, B J; Hunter, D W; Sirr, S A; Cardella, J F; Castaneda-Zuniga, W; Amplatz, K

    1987-01-01

    Ivalon particles were used for hepatic arterial embolization of diffuse arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. The methods of the procedure and possible complications are discussed. PMID:3107830

  8. Abdominal Lymphatic Malformation Presenting as Acute Abdominal Pain: A Common Pediatric Complaint, but an Unusual Diagnosis.

    PubMed

    Cruz, Christopher I; Farrell, Caitlin A; Nelson, Kyle A; Levy, Jason A

    2016-05-01

    We present the clinical and radiological findings involving a mesenteric lymphatic malformation causing volvulus in a toddler presenting with acute abdominal pain, as well as its treatment options. PMID:27139293

  9. [Complete endocardial cushion defect and bone malformations of the hands. Holt-Oram syndrome].

    PubMed

    Del Corso, L; Vannini, A; De Marco, S; Gnesi, A; Pentimone, F

    1991-10-01

    A 44 year old woman with upper limb skeletal malformations and endocardial cushion defect is described. This congenital heart disease was rarely reported in association with Holt-Oram syndrome. PMID:1745380

  10. Ethical language and decision-making for prenatally diagnosed lethal malformations.

    PubMed

    Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki

    2014-10-01

    In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as 'lethal' or as 'incompatible with life'. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated 'lethal' reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of 'futility'. We recommend avoiding the term 'lethal' and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate. PMID:25200733

  11. Congenital Malformations Associated with the Administration of Oral Anticoagulants During Pregnancy

    ERIC Educational Resources Information Center

    Pettifor, J. M.; Benson, R.

    1975-01-01

    Reported are case histories of three infants with congenital malformations (including defective formation of the nose and hands) associated with ingestion of oral anticoagulants during the first trimester of pregnancy. (CL)

  12. Isolated unilateral trismus as a presentation of Chiari malformation: case report.

    PubMed

    Feinberg, Michelle; Babington, Parker; Sood, Shawn; Keating, Robert

    2016-05-01

    The authors present a case of Chiari malformation manifesting as isolated trismus, describe the typical symptoms associated with Chiari malformation, and discuss the potential anatomical causes for this unique presentation. A 3-year-old boy presented with inability to open his jaw for 6 weeks with associated significant weight loss. The results of medical and radiological evaluation were negative except for Type I Chiari malformation with cerebellar tonsils 12 mm below the level of the foramen magnum. The patient underwent Chiari decompression surgery. Postoperatively, his ability to open his mouth was significantly improved, allowing resumption of a regular diet. Postoperative MRI revealed almost complete resolution of the syringobulbia. To the best of the authors' knowledge, this is the first reported case of isolated trismus from Chiari malformation with syringobulbia. PMID:26722762

  13. Ethical language and decision-making for prenatally diagnosed lethal malformations

    PubMed Central

    Wilkinson, Dominic; de Crespigny, Lachlan; Xafis, Vicki

    2014-01-01

    Summary In clinical practice, and in the medical literature, severe congenital malformations such as trisomy 18, anencephaly, and renal agenesis are frequently referred to as ‘lethal’ or as ‘incompatible with life’. However, there is no agreement about a definition of lethal malformations, nor which conditions should be included in this category. Review of outcomes for malformations commonly designated ‘lethal’ reveals that prolonged survival is possible, even if rare. This article analyses the concept of lethal malformations and compares it to the problematic concept of ‘futility’. We recommend avoiding the term ‘lethal’ and suggest that counseling should focus on salient prognostic features instead. For conditions with a high chance of early death or profound impairment in survivors despite treatment, perinatal and neonatal palliative care would be ethical. However, active obstetric and neonatal management, if desired, may also sometimes be appropriate. PMID:25200733

  14. Retroperitoneal lymphatic malformation and transverse testicular ectopia: a unique clinical presentation.

    PubMed

    Morris, Michael W; Cauthen, William; Bofill, James A; Blewett, Christopher J; Liechty, Kenneth W

    2013-04-01

    This case report presents a fetal patient diagnosed in utero with a retroperitoneal lymphatic malformation by ultrasound and followed through gestation. At birth the child was noted to have a right inguinal hernia with two palpable testicles. Plan for partial resection and hernia repair with postoperative sclerotherapy was made. At the time of hernia repair, transverse testicular ectopia was diagnosed, and subsequent extraperitoneal transposition orchiopexy was performed following partial resection of the lymphatic malformation. Delayed sclerotherapy in combination with partial resection afforded definitive treatment of the residual lymphatic malformation as the patient demonstrates no recurrence over one year later. This is the first reported case to suggest a direct relationship between transverse testicular ectopia and a retroperitoneal lymphatic malformation. PMID:23583159

  15. Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide

    EPA Science Inventory

    The present study was performed to determine experimental conditions for thalidomide induction of fetal malformations and to understand the molecular mechanisms underlying thalidomide teratogenicity in cynomolgus monkeys. Cynomolgus monkeys were orally administered (±)-thalidomid...

  16. [Uterine arteriovenous malformation: US, color Doppler US and MRI findings (case report)].

    PubMed

    Murat, Ayşe; Boztosun, Yasemin; Oğur, Erkin

    2004-06-01

    Uterine arteriovenous malformations are rare but life threatening lesions. Sixty nine-year old, multiparous, postmenopausal patient complained of intermittent vaginal hemorrhage for 4 years. Serum beta-HCG level of the patient who had no history of uterine curettage or pelvic operation was normal. Noninvasive diagnosis of arteriovenous malformations with congenital or acquired etiology can be made by color Doppler ultrasonography and MRI. PMID:15236132

  17. Nitrosatable drug exposure during the first trimester of pregnancy and selected congenital malformations

    PubMed Central

    Brender, Jean D.; Werler, Martha M; Shinde, Mayura U; Vuong, Ann M; Kelley, Katherine E.; Huber, John C.; Sharkey, Joseph R.; Griesenbeck, John S.; Romitti, Paul A.; Malik, Sadia; Suarez, Lucina; Langlois, Peter H.; Canfield, Mark A.

    2012-01-01

    BACKGROUND Nitrosatable drugs can react with nitrite in the stomach to form N-nitroso compounds, and results from animal studies suggest that N-nitroso compounds are teratogens. With data from the National Birth Defects Prevention Study, the relation between prenatal exposure to nitrosatable drugs and limb deficiencies, oral cleft, and heart malformations in offspring was examined. METHODS Maternal reports of drugs taken during the first trimester of pregnancy were classified with respect to nitrosatability for mothers of 741 babies with limb deficiencies, 2,774 with oral cleft malformations, 8,091 with congenital heart malformations, and 6,807 without major congenital malformations. Nitrite intake was estimated from maternal responses to a food frequency questionnaire. RESULTS Isolated transverse limb deficiencies and atrioventricular septal defects were associated with secondary amine drug exposures (adjusted odds ratios [aOR] 1.51, 95% confidence limit [CI] 1.11, 2.06 and aOR 1.97, 95% CI 1.19, 3.26, respectively). Tertiary amines were associated with hypoplastic left heart syndrome (aOR 1.50, 95% CI 1.10, 2.04) and single ventricle (aOR 1.61, 95% CI 1.06, 2.45). These two malformations were also significantly associated with amide drugs. For several malformations, the strongest associations with nitrosatable drug use occurred among mothers with the highest estimated dietary nitrite intake, especially for secondary amines and atrioventricular septal defects (highest tertile of nitrite, aOR 3.30, 95% CI 1.44, 7.58). CONCLUSION Prenatal exposure to nitrosatable drugs may be associated with several congenital malformations, especially with higher nitrite intake. The possible interaction between nitrosatable drugs and dietary nitrite on risk of congenital malformations warrants further attention. PMID:22903972

  18. CHRONIC HYPERTENSION IN PREGNANCY AND THE RISK OF CONGENITAL MALFORMATIONS: A COHORT STUDY

    PubMed Central

    Bateman, Brian T.; Huybrechts, Krista F.; Fischer, Michael A.; Seely, Ellen W.; Ecker, Jeffrey L.; Oberg, Anna S.; Franklin, Jessica M.; Mogun, Ms. Helen; Hernandez-Diaz, Sonia

    2014-01-01

    Objective Chronic hypertension is a common medical condition in pregnancy. The purpose of the study is to examine the association between maternal chronic hypertension and the risk of congenital malformations in the offspring. Study Design We defined a cohort of 878,126 completed pregnancies linked to infant medical records using the Medicaid Analytic Extract. The risk of congenital malformations was compared between normotensive controls and those with treated and untreated chronic hypertension. Confounding was addressed using propensity score matching. Results After matching, compared to normotensive controls, pregnancies complicated by treated chronic hypertension were at increased risk of congenital malformations (odds ratio (OR) 1.3, 95% confidence interval (CI) 1.2 to 1.5), as were pregnancies with untreated chronic hypertension (OR 1.2, 95% CI 1.1 to 1.3). In our analysis of organ-specific malformations, both treated and untreated chronic hypertension were associated with a significant increase in the risk of cardiac malformations (OR 1.6, 95% CI 1.4 to 1.9 and OR 1.5, 95% CI 1.3 to 1.7, respectively). These associations persisted across a range of sensitivity analyses. Conclusion There is a similar increase in the risk of congenital malformations (particularly cardiac malformations) associated with treated and untreated chronic hypertension that is independent of measured confounders. Studies evaluating the teratogenic potential of antihypertensive medications must control for confounding by indication. Fetuses and neonates of mothers with chronic hypertension should be carefully evaluated for potential malformations, particularly cardiac defects. PMID:25265405

  19. Atlas Assimilation Patterns in Different Types of Adult Craniocervical Junction Malformations

    PubMed Central

    Ferreira, Edson Dener Zandonadi; Botelho, Ricardo Vieira

    2015-01-01

    Study Design. This is a cross-sectional analysis of resonance magnetic images of 111 patients with craniocervical malformations and those of normal subjects. Objective. To test the hypothesis that atlas assimilation is associated with basilar invagination (BI) and atlas's anterior arch assimilation is associated with craniocervical instability and type I BI. Summary of Background Data. Atlas assimilation is the most common malformation in the craniocervical junction. This condition has been associated with craniocervical instability and BI in isolated cases. Methods. We evaluated midline Magnetic Resonance Images (MRIs) (and/or CT scans) from patients with craniocervical junction malformation and normal subjects. The patients were separated into 3 groups: Chiari type I malformation, BI type I, and type II. The atlas assimilations were classified according to their embryological origins as follows: posterior, anterior, and both arches assimilation. Results. We studied the craniometric values of 111 subjects, 78 with craniocervical junction malformation and 33 without malformations. Of the 78 malformations, 51 patients had Chiari type I and 27 had BI, of whom 10 presented with type I and 17 with type II BI. In the Chiari group, 41 showed no assimilation of the atlas. In the type I BI group, all patients presented with anterior arch assimilation, either in isolation or associated with assimilation of the posterior arch. 63% of the patients with type II BI presented with posterior arch assimilation, either in isolation or associated with anterior arch assimilation. In the control group, no patients had atlas assimilation. Conclusion. Anterior atlas assimilation leads to type I BI. Posterior atlas assimilation more frequently leads to type II BI. Separation in terms of anterior versus posterior atlas assimilation reflects a more accurate understanding of the clinical and embryological differences in craniocervical junction malformations. Level of Evidence: N/A PMID

  20. Unusual Systemic Artery to Pulmonary Artery Malformation Without Evidence of Systemic Disease, Trauma or Surgery

    SciTech Connect

    Geyik, Serdar; Yavuz, Kivilcim; Keller, Frederick S.

    2006-10-15

    Connections between the systemic and pulmonary arterial systems are rare conditions that can be due to either congenital or acquired diseases such as anomalous systemic arterial supply to normal lung, pulmonary sequestration, and systemic supply to pulmonary arteriovenous malformations. Herein, a unique case of systemic artery to pulmonary arterial malformation and its endovascular treatment in a patient with no history of the usual etiologies is reported.

  1. Maternal vitamin levels in pregnancies affected by congenital malformations other than neural tube defects

    PubMed Central

    Sutton, Marie; Mills, James L.; Molloy, Anne M.; Troendle, James F.; Brody, Lawrence C.; Conley, Mary; Mc Donnell, Robert; Scott, John M.; Kirke, Peadar N.

    2012-01-01

    Background Periconceptional use of folic acid prevents most neural tube defects (NTDs). Whether folic acid and/or multivitamins can prevent other congenital anomalies is not clear. This study tested whether maternal blood levels of folate and vitamin B12 in pregnancies affected by congenital malformations excluding NTDs are lower when compared to non-affected pregnancies. Methods We measured pregnancy red cell folate (RCF), vitamin B12, and homocysteine (tHcy) concentrations in blood samples taken at the first antenatal clinic in Dublin maternity hospitals in 1986–1990 when vitamin supplementation was rare. The cases were mothers who delivered a baby with a congenital malformation other than NTD identified by the Dublin EUROCAT Registry; controls were a systematic sample of mothers of offspring without congenital malformations from the same hospitals in the same time period. Results The median maternal levels of RCF and tHcy did not differ significantly between cases and controls for any of the congenital malformation groups examined (RCF: all malformations 275.9 ug/L v controls 271.2; p=0.77; tHcy: all malformations 7.5 umol/L v controls 7.6; p=0.57). In an unadjusted analysis vitamin B12 was significantly higher in case-mothers whose babies had cleft palate only (p=0.006), musculoskeletal malformations (p=0.034) and midline defects (p=0.039) but not after adjustment for multiple testing. Conclusions Our data suggest that low maternal folate and B12 levels or high tHcy levels in early pregnancy are not associated with all congenital malformations excluding NTDs. Fortification with folic acid or B12 may not have a beneficial effect in the prevention of these anomalies. PMID:21591245

  2. Vascular Malformation and Common Keratinocytic Nevus of the Soft Type: Phacomatosis Pigmentovascularis Revisited

    PubMed Central

    Laureano, André; Carvalho, Rodrigo; Amaro, Cristina; Freitas, Isabel; Cardoso, Jorge

    2014-01-01

    Phacomatosis pigmentovascularis is a rare syndrome characterized by the coexistence of a pigmented nevus and a cutaneous vascular malformation. We report a 5-year-old boy with all the typical findings of phacomatosis pigmentovascularis type Ia. Although its existence according to the traditional classification has been questioned, this case represents a very rare association of a capillary vascular malformation and a common keratinocytic nevus of the soft type. PMID:25506441

  3. Long-term evolution of a laughing headache associated with Chiari type 1 malformation.

    PubMed

    Morales-Asín, F; Mauri, J A; Iñiguez, C; Larrode, M P; Mostacero, E

    1998-01-01

    We describe an acute-onset, sharp, short-lasting (few seconds) headache at the vertex, that first occurred 10 years ago in a 44-year-old woman. Attacks were triggered by vigorous laughing. A magnetic resonance imaging study showed a Chiari type 1 malformation. To our knowledge, laugh-induced headache with long-term evolution in association with Chiari type 1 malformation has not been previously reported. PMID:15613173

  4. Vascular malformations of the spinal cord (angiodysgenetic myelomalacia): a critique on its pathogenesis.

    PubMed

    Badejo, L; Sangalang, V E

    1979-02-01

    Two cases of angiodysgenetic myelomalacia are presented. Both patients had progressive weakness and sensory deficits in the lower extremities and vascular malformations of their spinal cords. The lesions were located on the dorsum of the spinal cord and the dorso-spinal roots. We believe the symptoms that developed later in life were due to spinal cord ischemia resulting from late degenerative changes in the vessels of the malformation and an ever increasing spinal "steal". PMID:424976

  5. A rare case of pulmonary arterio-venous malformation with recurrent anemia: Hereditary hemorrhagic telangiectasia

    PubMed Central

    Nataraju, Kamalesh Tagadur; Mukherjee, Tirthankar; Doddaiah, Ramachandra Prabhu Hosahalli; Nanjappa, Nagesh Gabbadi; Narasegowda, Lakshmikanth

    2015-01-01

    Arteriovenous malformation (AVM) is a rare vascular anomaly of the lung, which manifests predominantly as dyspnea (due to right to left shunting) and paradoxical embolism. Hereditary Hemorrhagic Telangiectasia (HHT) being a rare genetic disorder is one of the most common causes of pulmonary arteriovenous malformation (PAVM). Here we report an interesting case of recurrent anemia in an elderly female, who was subsequently found to have multiple cutaneous and mucosal telangiectasias and a large pulmonary AVM. PMID:26180392

  6. Disruption of action potential and calcium signaling properties in malformed myofibers from dystrophin-deficient mice

    PubMed Central

    Hernández-Ochoa, Erick O; Pratt, Stephen J P; Garcia-Pelagio, Karla P; Schneider, Martin F; Lovering, Richard M

    2015-01-01

    Duchenne muscular dystrophy (DMD), the most common and severe muscular dystrophy, is caused by the absence of dystrophin. Muscle weakness and fragility (i.e., increased susceptibility to damage) are presumably due to structural instability of the myofiber cytoskeleton, but recent studies suggest that the increased presence of malformed/branched myofibers in dystrophic muscle may also play a role. We have previously studied myofiber morphology in healthy wild-type (WT) and dystrophic (MDX) skeletal muscle. Here, we examined myofiber excitability using high-speed confocal microscopy and the voltage-sensitive indicator di-8-butyl-amino-naphthyl-ethylene-pyridinium-propyl-sulfonate (di-8-ANEPPS) to assess the action potential (AP) properties. We also examined AP-induced Ca2+ transients using high-speed confocal microscopy with rhod-2, and assessed sarcolemma fragility using elastimetry. AP recordings showed an increased width and time to peak in malformed MDX myofibers compared to normal myofibers from both WT and MDX, but no significant change in AP amplitude. Malformed MDX myofibers also exhibited reduced AP-induced Ca2+ transients, with a further Ca2+ transient reduction in the branches of malformed MDX myofibers. Mechanical studies indicated an increased sarcolemma deformability and instability in malformed MDX myofibers. The data suggest that malformed myofibers are functionally different from myofibers with normal morphology. The differences seen in AP properties and Ca2+ signals suggest changes in excitability and remodeling of the global Ca2+ signal, both of which could underlie reported weakness in dystrophic muscle. The biomechanical changes in the sarcolemma support the notion that malformed myofibers are more susceptible to damage. The high prevalence of malformed myofibers in dystrophic muscle may contribute to the progressive strength loss and fragility seen in dystrophic muscles. PMID:25907787

  7. Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism.

    PubMed

    Pang, Chang Hwan; Lee, Soo Eon; Kim, Chi Heon; Chung, Chun Kee

    2015-09-01

    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery. PMID:26512271

  8. Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism

    PubMed Central

    Pang, Chang Hwan; Kim, Chi Heon; Chung, Chun Kee

    2015-01-01

    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery. PMID:26512271

  9. Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

    SciTech Connect

    Chiramel, George Koshy Keshava, Shyamkumar Nidugala Moses, Vinu Mammen, Suraj; David, Sarada; Sen, Sudipta

    2015-04-15

    PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.

  10. Absolute Ethanol Embolization of Arteriovenous Malformations in the Periorbital Region

    SciTech Connect

    Su, Li-xin; Jia, Ren-Bing; Wang, De-Ming Lv, Ming-Ming Fan, Xin-dong

    2015-06-15

    ObjectiveArteriovenous malformations (AVMs) involving the periorbital region are technically challenging clinical entities to manage. The purpose of the present study was to present our initial experience of ethanol embolization in a series of 16 patients with auricular AVMs and assess the outcomes of this treatment.MethodsTranscatheter arterial embolization and/or direct percutaneous puncture embolization were performed in the 16 patients. Pure or diluted ethanol was manually injected. The follow-up evaluations included physical examination and angiography at 1- to 6-month intervals.ResultsDuring the 28 ethanol embolization sessions, the amount of ethanol used ranged from 2 to 65 mL. The obliteration of ulceration, hemorrhage, pain, infection, pulsation, and bruit in most of the patients was obtained. The reduction of redness, swelling, and warmth was achieved in all the 16 patients, with down-staging of the Schobinger status for each patient. AVMs were devascularized 100 % in 3 patients, 76–99 % in 7 patients, and 50–75 % in 6 patients, according to the angiographic findings. The most common complications were necrosis and reversible blister. No permanent visual abnormality was found in any of the cases.ConclusionEthanol embolization is efficacious and safe in the treatment of AVMs in the periorbital region and has the potential to be accepted as the primary mode of therapy in the management of these lesions.

  11. Pediatric Stroke: The Importance of Cerebral Arteriopathy and Vascular Malformations

    PubMed Central

    Beslow, Lauren A.; Jordan, Lori C.

    2011-01-01

    Stroke is an important cause of neurologic morbidity in childhood. Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 children. This article will review recent literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations as stroke risk factors. Additional risk factors include congenital heart disease, sickle cell disease, and hematologic abnormalities among others. Outcomes are variable and are related to the severity of presentation, associated illnesses, and other factors. More than half of children who have had a stroke have long-term neurological sequelae. Five-year recurrence risk is estimated to be 5–19%. Children with cerebrovascular abnormalities are at the highest risk of recurrence (66% at 5 years for ischemic stroke in one study). Furthermore, cerebral arteriopathy including arterial dissection may account for up to 80% of childhood stroke in otherwise healthy children. In many cases, evaluation and treatment of pediatric stroke is not evidence-based, and regional and geographic variations in practice patterns exist. Multicenter cohort studies and ultimately dedicated pediatric clinical trials will be essential to establish comprehensive evidence-based guidelines for pediatric stroke care. PMID:20625743

  12. [Management of gastrointestinal malformations in children with asplenia syndrome].

    PubMed

    Mitsunaga, Maki; Urushihara, Naoto; Fujimoto, Yoshifumi; Sakamoto, Kisaburo

    2011-07-01

    Asplenia syndrome (AS) is a complex disorder that includes a variety of cardiovascular and gastrointestinal malformations (GMs), and its prognosis remains poor. We treated 40 AS patients between 2000 and 2010, 10 of whom underwent surgery to correct GMs. These comprised 7 hiatus hernias (HH), 1 intestinal malrotation (IM), 1 stomach volvulus, and 1 ompalocele. In this review, we consider the optimal surgical timing and methods of management, especially for HH and IM. Surgery was performed in 6 of 7 HH patients. Four of those underwent laparotomy, 1 thoracotomy, and 1 laparoscopy. The Toupet method or fixation of the His angle or hiatus closure was selected in each case. Because the stomach intruding into the mediastinum may cause pulmonary venous obstruction and respiratory impairment, surgical repair is preferably performed prior to Glenn surgery. Among the 9 IMs, 8 were nonrotational and required no treatment, and only 1 required surgical treatment. GMs in AS are difficult to manage because of the unique anatomy, meaning there are no fixed surgical techniques. Each patient must be carefully examined preoperatively, and the optimum surgical method selected. Close collaboration with cardiovascular surgeons is vital when determining the timing and method of surgery. PMID:21819015

  13. Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment

    PubMed Central

    Siminas, Sotirios; Baillie, Colin Tennant; Turnock, Richard

    2015-01-01

    Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with “low” anomalies, with a potential for a good prognosis. Management of the anorectal anomaly in patients with KS is not essentially different from that in other nonsyndromic patients, taking into account the frequent association of the syndrome with serious congenital heart disease, which might affect the decision-making and timing of the stages of anorectal reconstruction. The frequent occurrence of learning and feeding difficulties makes establishment of toilet training and bowel management rather more challenging, requiring the expertise of a multidisciplinary team. The finding of ARMs in female patients with other characteristics of KS, although inconstant, could support the clinical suspicion for the syndrome until genetic confirmation is available, and should alert the physician for the potential of severe cardiac defects. PMID:26171318

  14. Perceptual enhancement of arteriovenous malformation in MRI angiography displays

    NASA Astrophysics Data System (ADS)

    Abhari, Kamyar; Baxter, John S. H.; Eagleson, Roy; Peters, Terry; de Ribaupierre, Sandrine

    2012-02-01

    The importance of presenting medical images in an intuitive and usable manner during a procedure is essential. However, most medical visualization interfaces, particularly those designed for minimally-invasive surgery, suffer from a number of issues as a consequence of disregarding the human perceptual, cognitive, and motor system's limitations. This matter is even more prominent when human visual system is overlooked during the design cycle. One example is the visualization of the neuro-vascular structures in MR angiography (MRA) images. This study investigates perceptual performance in the usability of a display to visualize blood vessels in MRA volumes using a contour enhancement technique. Our results show that when contours are enhanced, our participants, in general, can perform faster with higher level of accuracy when judging the connectivity of different vessels. One clinical outcome of such perceptual enhancement is improvement of spatial reasoning needed for planning complex neuro-vascular operations such as treating Arteriovenous Malformations (AVMs). The success of an AVM intervention greatly depends on fully understanding the anatomy of vascular structures. However, poor visualization of pre-operative MRA images makes the planning of such a treatment quite challenging.

  15. Decompressive craniectomy for arteriovenous malformation-related intracerebral hemorrhage.

    PubMed

    Takeuchi, Satoru; Takasato, Yoshio; Masaoka, Hiroyuki; Nagatani, Kimihiro; Otani, Naoki; Wada, Kojiro; Mori, Kentaro

    2015-03-01

    Arteriovenous malformation (AVM)-related intracerebral hemorrhage (ICH) is the cause of approximately 2-3% of ICH and is an important factor in the significant morbidity and mortality in patients with AVM. Decompressive craniectomy (DC) is a surgical procedure to relieve malignant elevation of intracranial pressure. The use of DC to treat patients with AVM-ICH has been much less common. The present study describes our experience with DC for AVM-ICH and discusses the safety of this procedure. The present retrospective analysis compared 12 consecutive patients treated with DC for AVM-ICH with 23 patients treated with DC for hypertensive ICH. Nine patients were male and three were female, aged from 11 to 53 years (mean, 31.7 years). Hematoma volumes ranged from 50 to 106 ml (mean, 75.8 ml). The outcomes were good recovery in one patient, moderate disability in three, severe disability in seven, and vegetative state in one. Complications after DC included subdural hygroma in four patients, hydrocephalus in one, intracranial infection in two, and intracranial hemorrhage in one. No significant difference was found in the incidence of complications between DC for large AVM-ICH and DC for hypertensive ICH. In conclusion, the present study found no significant difference in the incidence of complications between DC for large AVM-ICH and DC for hypertensive ICH. Further investigations including a prospective randomized trial are needed to confirm the safety and efficacy of DC for the treatment of large AVM-ICH. PMID:25564272

  16. Cerebral venous malformation with meningioma: A case report

    PubMed Central

    MU, QINGCHUN; ZHANG, KUN; WANG, JUSTIN; SAYARI, ARASH; HUANG, HAIYAN

    2016-01-01

    A 43-year-old female patient was admitted to The First Hospital of Jilin University (Changchun, China) on 1st October 2011 with a 10-day history of discontinuous, whole-brain headache and a 1-year history of impaired vision and memory deterioration, accompanied by right facial numbness. Clinical signs and radiological features observed using magnetic resonance imaging (MRI) led to the diagnosis of an intracranial meningioma accompanied by a cerebral venous malformation (CVM). The patient underwent neurosurgical resection of the meningioma, but required no further treatment for the CVM. At a 1-year follow-up examination, the patient continued to complain of discontinuous headache. Digital subtraction angiography (DSA) was used to reconfirm the CVM diagnosis; however, no treatment was administered due to the high risks of treatment and only mild symptoms experienced by the patient. The present case demonstrates the efficacy of DSA for detecting the presence and specific nature of CVM, and compares the value of MRI and DSA in the diagnosis of CVM. The majority of CVM patients exhibit no clinical symptoms, and the disease prognosis is typically favorable. PMID:26998016

  17. Multimodal angiographic assessment of cerebral arteriovenous malformations: a pilot study

    PubMed Central

    Blanc, Raphaël; Seiler, Aude; Robert, Thomas; Baharvahdat, Humain; Lafarge, Maxime; Savatovsky, Julien; Hodel, Jérôme; Ciccio, Gabriele; Chauvet, Dorian; Pistocchi, Silvia; Bartolini, Bruno; Redjem, Hocine; Piotin, Michel

    2015-01-01

    Purpose We describe our protocol of three-dimensional (3D) Roadmap intracranial navigation and image fusion for analysis of the angioarchitecture and endovascular treatment of brain arteriovenous malformations (AVMs). Methods We performed superselective catheterization of brain AVMs feeders under 3D-Roadmap navigation. Angiograms of each catheterized artery on two registered orthogonal views were transferred to the imaging workstations, and dedicated postprocessing imaging software allowed automated multiple overlays of the arterial supply of the AVM superselective acquisitions on the global angiogram in angiographic or 3D views and on coregistered MRI datasets. Results 11 untreated brain AVMs (4 with hemorrhagic presentation) were explored. The superselective acquisitions were performed under 3D-Roadmap navigation in 74 arteries, for a total of 79 targeted arteries. Imaging analysis was available at table side or postoperatively for discussion of the therapeutic strategy. No complications occurred during superselective catheterization. The accuracy of the coregistration of angiogram and MRI was submillimetric after automated mutual information coregistration, with manual re-registration by the physicians. Conclusions Superselective angiograms acquired under 3D-Roadmap navigation can be postprocessed with multiple overlays. The fluoroscopic navigation under 3D-Roadmapping and the coregistration of 3D rotational angiography, selective angiography, and 3D MR datasets appears reliable with millimeter accuracy, and could be implemented in the critical brain AVM embolization setting to allow refined analysis of AVM angioarchitecture. PMID:25280569

  18. Endovascular and microsurgical treatment of cerebral arteriovenous malformations: Current recommendations

    PubMed Central

    Conger, Andrew; Kulwin, Charles; Lawton, Michael T.; Cohen-Gadol, Aaron A.

    2015-01-01

    Background: Cerebral arteriovenous malformations (AVMs) can be a heterogeneous pathological entity whose management requires a complex decision-making process due to the risks associated with their treatment and natural history. Despite the recently published conclusions of the aborted Randomized Trial of Brain Unruptured AVMs (ARUBA) trial, the authors of this article believe multimodality intervention in general and microsurgical resection in particular continue to play a major role in the management of carefully selected ruptured or unruptured AVMs. Methods: The authors provide an overview of their methodology for endovascular intervention and microsurgical resection and share their technical nuances for successful embolization and microsurgical resection of AVMs with special emphasis on complication avoidance. Results: The authors have achieved successful outcomes in embolization and resection of cerebral AVMs when using their methodology. Conclusions: These lesions are among the most technically difficult pathological entities handled by the cerebrovascular specialist, and an overview of technical concepts to help systematize this challenging and variable endeavor can improve the safety of their treatment. PMID:25883831

  19. Endovascular Embolization of Brain Arteriovenous Malformations with Eudragit-E

    PubMed Central

    TAMURA, Goichiro; KATO, Noriyuki; YAMAZAKI, Tomosato; AKUTSU, Yoshimitsu; HOSOO, Hisayuki; KASUYA, Hiromichi; SONOBE, Makoto

    2015-01-01

    Eudragit-E was originally developed as a non-adhesive liquid embolic material in the late 1990s and is a copolymer of methyl and butyl methacrylate and dimethylaminoethyl methacrylate that is dissolved in ethanol and iopamidol. This material has been used for endovascular embolization of brain arteriovenous malformations (AVMs) for some time but is currently not widely used. Because safety and feasibility of Eudragit-E has not been well documented, we here report our experience using this material for treating 22 human brain AVMs. From June 1998 to February 2014, 30 endovascular procedures using Eudragit-E were performed to treat 22 patients, including 14 men and 8 women with a mean age of 41.1 years (15–70 years). The mean follow-up period was 56 months (12–129 months), and the Spetzler-Martin grades were I (4 patients), II (9 patients), III (5 patients), and IV (4 patients). Residual AVMs were treated with stereotactic radiosurgery or surgery. The rate of complete obliteration with embolization alone was 27.3%. The overall obliteration rate after endovascular embolization with/without subsequent stereotactic radiosurgery or surgery was 72.7%. Eudragit-E caused two cases of cerebral infarction. One case of intracerebral hemorrhage due to postoperative hemodynamic changes also occurred. The rate of complications directly related to embolization was 10.0%. The safety and effectiveness of Eudragit-E embolization were satisfactory. PMID:25739432

  20. Bisphenol A induces otolith malformations during vertebrate embryogenesis

    PubMed Central

    2011-01-01

    Background The plastic monomer and plasticizer bisphenol A (BPA), used for manufacturing polycarbonate plastic and epoxy resins, is produced at over 2.5 million metric tons per year. Concerns have been raised that BPA acts as an endocrine disruptor on both developmental and reproductive processes and a large body of evidence suggests that BPA interferes with estrogen and thyroid hormone signaling. Here, we investigated BPA effects during embryonic development using the zebrafish and Xenopus models. Results We report that BPA exposure leads to severe malformations of the otic vesicle. In zebrafish and in Xenopus embryos, exposure to BPA during the first developmental day resulted in dose-dependent defects in otolith formation. Defects included aggregation, multiplication and occasionally failure to form otoliths. As no effects on otolith development were seen with exposure to micromolar concentrations of thyroid hormone, 17-ß-estradiol or of the estrogen receptor antagonist ICI 182,780 we conclude that the effects of BPA are independent of estrogen receptors or thyroid-hormone receptors. Na+/K+ ATPases are crucial for otolith formation in zebrafish. Pharmacological inhibition of the major Na+/K+ ATPase with ouabain can rescue the BPA-induced otolith phenotype. Conclusions The data suggest that the spectrum of BPA action is wider than previously expected and argue for a systematic survey of the developmental effects of this endocrine disruptor. PMID:21269433

  1. Optical Coherence Tomography in Patients with Chiari I Malformation

    PubMed Central

    Perrini, Paolo; Miccoli, Mario; Baggiani, Angelo; Nardi, Marco

    2015-01-01

    Background/Aims. To evaluate optic nerve head with spectral domain optical coherence tomography (OCT) in patients with Chiari I malformation (CMI) compared to healthy controls. Methods. Cross-sectional study. OCT of the optic nerve head of 22 patients with CMI and 22 healthy controls was quantitatively analyzed. The healthy controls were matched for age and sex with the study population. Mean retinal nerve fiber layer (RNFL) thickness was calculated for both eyes; the mean thickness value was also registered for each quadrant and for each subfield of the four quadrants. Results. CMI patients showed a reduction of the RNFL thickness in both eyes. This reduction was more statistically significant (P < 0.05) for the inferior quadrant in the right eye and in each quadrant than nasal one in the left eye. Conclusion. A distress of the retinal nerve fibers could explain the observed reduction of the RNFL thickness in patients with CMI; in our series the reduction of the RNFL thickness seems lower when CMI is associated with syringomyelia. PMID:25815335

  2. [Moya-moya disease in a child with multiple malformations].

    PubMed

    Gorrotxategi, P; Reguilón, M J; Gaztañaga, R; Hernández Abenza, J; Albisu, Y

    1995-01-01

    Moya-Moya disease is an obstruction of the internal carotids and of the afferent and efferent channels of Willis's polygon, which causes a collateral circulation, responsible for the typical angiographic image of a "puff of smoke" (Moya-Moya, in Japanese). Its etiology is unknown, and it might be congenital or acquired. It has been associated with congenital diseases such as Neurofibromatosis and disease of the falciform cells, among others. It usually appears as an alternating hemiplegia. We report here on the case of a 4-year-old boy with alternating hemiplegia (initially on the left, later on the right and then back on the left) and angiographic alterations which are characteristic of Moya-Moya. This patient had been examined in our hospital in the neonatal period as he had malformative stigmas, basically consistent with a flat angioma on the forehead, upper eyelids, and base of the nose, a previous wide fontanella which expanded to the whole of the methopic suture, aplasia, forehead level skin and abnormal implantation of the skin in that region. What draws attention in this case is the association of middle line craniofacial lesions (angioma, skin aplasia) and the later development of Moya-Moya. PMID:7497200

  3. Fractal dimension analysis of cerebellum in Chiari Malformation type I.

    PubMed

    Akar, Engin; Kara, Sadık; Akdemir, Hidayet; Kırış, Adem

    2015-09-01

    Chiari Malformation type I (CM-I) is a serious neurological disorder that is characterized by hindbrain herniation. Our aim was to evaluate the usefulness of fractal analysis in CM-I patients. To examine the morphological complexity features of this disorder, fractal dimension (FD) of cerebellar regions were estimated from magnetic resonance images (MRI) of 17 patients with CM-I and 16 healthy control subjects in this study. The areas of white matter (WM), gray matter (GM) and cerebrospinal fluid (CSF) were calculated and the corresponding FD values were computed using a 2D box-counting method in both groups. The results indicated that CM-I patients had significantly higher (p<0.05) FD values of GM, WM and CSF tissues compared to control group. According to the results of correlation analysis between FD values and the corresponding area values, FD and area values of GM tissues in the patients group were found to be correlated. The results of the present study suggest that FD values of cerebellar regions may be a discriminative feature and a useful marker for investigation of abnormalities in the cerebellum of CM-I patients. Further studies to explore the changes in cerebellar regions with the help of 3D FD analysis and volumetric calculations should be performed as a future work. PMID:26189156

  4. Gastric foregut cystic developmental malformation: Case series and literature review

    PubMed Central

    Geng, Yan-Hua; Wang, Chang-Xing; Li, Jiang-Tao; Chen, Qing-Yu; Li, Xiu-Zhen; Pan, Hao

    2015-01-01

    Foregut cystic developmental malformation (FCDM) is a very rare lesion of the alimentary tract, especially in the stomach. We discuss the concepts of gastric duplication cyst, bronchogenic cysts, and FCDM. Nomenclature has been inconsistent and confusing, but, by some definitions, gastric duplication cysts involve gastric mucosa and submucosal glands, bronchogenic cysts involve respiratory mucosa with underlying cartilage and glands, and FCDM lacks gastric mucosa or underlying glands or cartilage but has pseudostratified ciliated columnar epithelium (PCCE). We searched our departmental case files from the past 15 years and identified 12 cases of FCDM in the alimentary tract. We summarize the features of these 12 cases including a report in detail on a 52-year-old man with a submucosal cyst lined with simple PCCE and irregular and stratified circular muscle layers that merged with gastric smooth muscle bundles near the lesser curvature of the gastric cardia. A literature review of cases with this histology yielded 25 cases. We propose the term gastric-FCDM for such cases. Our own series of 12 cases confirms that preoperative recognition of the entity is infrequent and problematic. The rarity of this developmental disorder, as well as a lack of understanding of its embryologic origins, may contribute to missing the diagnosis. Not appreciating the diagnosis preoperatively can lead to an inappropriate surgical approach. In contrast, presurgical recognition of the entity will contribute to a good outcome and reduced risk of complications. PMID:25593458

  5. Complications of sclerotherapy for 75 head and neck venous malformations.

    PubMed

    Castrén, Eeva; Aronniemi, Johanna; Klockars, Tuomas; Pekkola, Johanna; Lappalainen, Kimmo; Vuola, Pia; Salminen, Päivi; Pitkäranta, Anne

    2016-04-01

    Sclerotherapy is one treatment option for head and neck venous malformations (VMs). Evaluation of complication risks is, however, essential to improve its safety. We aimed to systematically report sclerotherapy complications by means of the Clavien-Dindo classification and to distinguish factors predisposing to complications. We identified our institution's head and neck VM patients who received sclerotherapy between 1 January 2007 and 31 August 2013, analyzed patient reports retrospectively, and applied to them the Clavien-Dindo classification. Our 75 VM patients underwent a total of 150 sclerotherapy sessions. The most common sclerosants were 3 % sodium tetradecyl sulfate and polidocanol. Complications occurred in 13 patients (17.3 %) and in 15 sessions (10.0 %); 3 complications required extensive postprocedural treatment and caused permanent morbidity, whereas 12 received conservative treatment. Patients with sclerotherapy complications underwent more treatments (p = 0.009) and more often needed further surgery (p = 0.007). We thus consider sclerotherapy a relatively safe treatment modality for head and neck VMs. To avoid complications, evaluation of VM characteristics and optimal treatment technique in a multidisciplinary team is vital. PMID:25731642

  6. Turner syndrome with spinal hemorrhage due to vascular malformation

    PubMed Central

    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Kim, Duk Hee; Kim, Ho-Seong

    2015-01-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS. PMID:26817012

  7. Malformation syndromes caused by disorders of cholesterol synthesis

    PubMed Central

    Porter, Forbes D.; Herman, Gail E.

    2011-01-01

    Cholesterol homeostasis is critical for normal growth and development. In addition to being a major membrane lipid, cholesterol has multiple biological functions. These roles include being a precursor molecule for the synthesis of steroid hormones, neuroactive steroids, oxysterols, and bile acids. Cholesterol is also essential for the proper maturation and signaling of hedgehog proteins, and thus cholesterol is critical for embryonic development. After birth, most tissues can obtain cholesterol from either endogenous synthesis or exogenous dietary sources, but prior to birth, the human fetal tissues are dependent on endogenous synthesis. Due to the blood-brain barrier, brain tissue cannot utilize dietary or peripherally produced cholesterol. Generally, inborn errors of cholesterol synthesis lead to both a deficiency of cholesterol and increased levels of potentially bioactive or toxic precursor sterols. Over the past couple of decades, a number of human malformation syndromes have been shown to be due to inborn errors of cholesterol synthesis. Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol-C-4 methyloxidase-like deficiency, and Antley-Bixler syndrome. PMID:20929975

  8. Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    PubMed Central

    Poduri, Annapurna; Evrony, Gilad D.; Cai, Xuyu; Elhosary, Princess Christina; Beroukhim, Rameen; Lehtinen, Maria K.; Hills, L. Benjamin; Heinzen, Erin L.; Hill, Anthony; Hill, R. Sean; Barry, Brenda J.; Bourgeois, Blaise F.D.; Riviello, James J.; Barkovich, A. James; Black, Peter M.; Ligon, Keith L.; Walsh, Christopher A.

    2012-01-01

    Summary Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that 2/8 HMG samples showed trisomy of chromosome 1q, encompassing many genes, including AKT3, which is known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G→A, creating p.E17K) that was not present in the patient’s blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralogue in brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to brain could represent an important cause of complex neurogenetic disease. PMID:22500628

  9. Endothelial cells in the context of brain arteriovenous malformations.

    PubMed

    Sammons, Vanessa; Davidson, Andrew; Tu, Jian; Stoodley, Marcus A

    2011-02-01

    A subset of brain arteriovenous malformations (AVM) cannot be treated using today's treatment paradigms. Novel therapies may be developed, however, as the underlying pathophysiology of these lesions becomes better understood. Endothelial cells (EC) are the subject of new biological therapies, such as radiosensitisation and vascular targeting. This work reviews the current research surrounding EC in the context of brain AVM, including both in vitro and AVM specimen analysis, with a particular focus on the effect of radiation on EC. EC are heterogeneous with no recognised common phenotype, which leads to difficulties in applying the results of the common studies using human umbilical vein endothelial cells to AVM research. Human brain EC are observed to have a high rate of proliferation and also have a reduced apoptotic response to inflammatory mediators such as transforming growth factor-beta. The angiogenic factors vascular endothelial growth factor and endothelin-1 (ET-1) are not normally produced by quiescent brain vasculature, but are produced by AVM EC. Radiation causes EC to separate and become disrupted. Leucocyte and platelet adherence is increased for several days post-irradiation due to increased E-selectin and P-selectin and intercellular adhesion molecule-1 expression. ET-1 is highly expressed in irradiated AVM EC. Radiosurgery produces local radiation-induced changes in EC, which may allow these changes to be harnessed in conjunction with other techniques such as vascular targeting. PMID:21167719

  10. Stereotactic radiosurgery for intracranial arteriovenous malformations: A review.

    PubMed

    Moorthy, Ranjith K; Rajshekhar, Vedantam

    2015-01-01

    Stereotactic radiosurgery (SRS) has proven to be an effective strategy in the management of intracranial arteriovenous malformations (AVMs) in children and adults over the past three decades. Its application has resulted in lowering the morbidity and mortality associated with treatment of deep-seated AVMs. SRS has been used as a primary modality of therapy as well as in conjunction with embolization and microsurgery in the management of AVMs. The obliteration rate after SRS has been reported to range from 35% to 92%. Smaller AVMs receiving higher marginal doses have obliteration rates of 70% and more. The median follow-up reported in most series is approximately 36-40 months. The median time to obliteration has been reported to be approximately 24-36 months in most series. Radiation-induced neurological complications have been reported in less than 10% of patients, with a 1.5%-6% risk of developing a new permanent neurological deficit. The bleeding rate during the latency to obliteration has been reported to be approximately 5%. This review describes the experience reported in literature with respect to the indications, dosage, factors affecting obliteration rate of AVMs, and complications after SRS. PMID:26588616

  11. Cardiovascular malformations in Smith-Lemli-Opitz syndrome

    SciTech Connect

    Lin, A.E.; Ardinger, H.H.; Ardinger, R.H. Jr.

    1997-01-31

    We reviewed 215 patients (59 new, 156 from the literature) with Smith-Lemli-Opitz syndrome (SLOS), and found that 95 (44%) had a cardiovascular malformation (CVM). Classifying CVMs by disordered embryonic mechanisms, there were 5 (5.3%) class I (ectomesenchymal tissue migration abnormalities), 56 (58.9%) class II (abnormal intracardiac blood flow), 25 (26.3%) class IV (abnormal extracellular matrix), and 5 (5.3%) class V (abnormal targeted growth). Comparing the frequencies of individual CVMs in this series with a control group (the Baltimore-Washington Infant Study), there were 6 individual CVMs which showed a significant difference from expected values. When frequencies of CVMs in SLOS were analyzed by mechanistic class, classes IV and V were significantly more frequent, and class I significantly less frequent, than the control group. Although CVMs in SLOS display mechanistic heterogeneity, with an overall predominance of class II CVMs, the developmental error appears to favor alteration of the cardiovascular developmental mechanisms underlying atrioventricular canal and anomalous pulmonary venous return. This information should assist the clinical geneticist evaluating a patient with possible SLOS, and should suggest research direction for the mechanisms responsible for the SLOS phenotype. 102 refs., 1 fig., 7 tabs.

  12. Introduction to cerebral cavernous malformation: a brief review.

    PubMed

    Kim, Jaehong

    2016-05-01

    The disease known as cerebral cavernous malformations mostly occurs in the central nervous system, and their typical histological presentations are multiple lumen formation and vascular leakage at the brain capillary level, resulting in disruption of the blood-brain barrier. These abnormalities result in severe neurological symptoms such as seizures, focal neurological deficits and hemorrhagic strokes. CCM research has identified 'loss of function' mutations of three ccm genes responsible for the disease and also complex regulation of multiple signaling pathways including the WNT/β-catenin pathway, TGF-β and Notch signaling by the ccm genes. Although CCM research is a relatively new and small scientific field, as CCM research has the potential to regulate systemic blood vessel permeability and angiogenesis including that of the blood-brain barrier, this field is growing rapidly. In this review, I will provide a brief overview of CCM pathogenesis and function of ccm genes based on recent progress in CCM research. [BMB Reports 2016; 49(5): 255-262]. PMID:26923303

  13. Neocortical malformation as consequence of nonadaptive regulation of neuronogenetic sequence

    NASA Technical Reports Server (NTRS)

    Caviness, V. S. Jr; Takahashi, T.; Nowakowski, R. S.

    2000-01-01

    Variations in the structure of the neocortex induced by single gene mutations may be extreme or subtle. They differ from variations in neocortical structure encountered across and within species in that these "normal" structural variations are adaptive (both structurally and behaviorally), whereas those associated with disorders of development are not. Here we propose that they also differ in principle in that they represent disruptions of molecular mechanisms that are not normally regulatory to variations in the histogenetic sequence. We propose an algorithm for the operation of the neuronogenetic sequence in relation to the overall neocortical histogenetic sequence and highlight the restriction point of the G1 phase of the cell cycle as the master regulatory control point for normal coordinate structural variation across species and importantly within species. From considerations based on the anatomic evidence from neocortical malformation in humans, we illustrate in principle how this overall sequence appears to be disrupted by molecular biological linkages operating principally outside the control mechanisms responsible for the normal structural variation of the neocortex. MRDD Research Reviews 6:22-33, 2000. Copyright 2000 Wiley-Liss, Inc.

  14. Upper limb malformations in chromosome 22q11 deletions

    SciTech Connect

    Shalev, S.A.; Dar, H.; Barel, H.; Borochowitz, Z.

    1996-03-29

    We read with interest the report of Cormier-Daire et al. in a recent issue of the journal, describing upper limb malformations in DiGeorge syndrome. We observed a family with this group of rare clinical expression of chromosome 22q11 deletions. The proposita was examined in our clinic when she was 4 years old. She was mildly mentally retarded. Clinical evaluation showed normal growth, long thin nose with squared tip, nasal speech, and abundant scalp hair and no cardiac anomalies. The girl was accompanied by her mother. Facial similarities were noted between the two. The mother reported to be treated with oral calcium due to hypoparathyroidism, diagnosed several years ago. Clinical evaluation showed wide flat face, short stature, mild mental retardation, slight hypertelorism, peculiar nose similar to her daughter`s, and nasal speech. No cardiac anomalies were found. Recently, a brother was born. Clinical examination documented large ventriculo-septal defect, retrognathia, narrow palpebral fissures, and long thin nose with squared tip. 1 ref.

  15. Endovascular embolization of brain arteriovenous malformations with Eudragit-E.

    PubMed

    Tamura, Goichiro; Kato, Noriyuki; Yamazaki, Tomosato; Akutsu, Yoshimitsu; Hosoo, Hisayuki; Kasuya, Hiromichi; Sonobe, Makoto

    2015-01-01

    Eudragit-E was originally developed as a non-adhesive liquid embolic material in the late 1990s and is a copolymer of methyl and butyl methacrylate and dimethylaminoethyl methacrylate that is dissolved in ethanol and iopamidol. This material has been used for endovascular embolization of brain arteriovenous malformations (AVMs) for some time but is currently not widely used. Because safety and feasibility of Eudragit-E has not been well documented, we here report our experience using this material for treating 22 human brain AVMs. From June 1998 to February 2014, 30 endovascular procedures using Eudragit-E were performed to treat 22 patients, including 14 men and 8 women with a mean age of 41.1 years (15-70 years). The mean follow-up period was 56 months (12-129 months), and the Spetzler-Martin grades were I (4 patients), II (9 patients), III (5 patients), and IV (4 patients). Residual AVMs were treated with stereotactic radiosurgery or surgery. The rate of complete obliteration with embolization alone was 27.3%. The overall obliteration rate after endovascular embolization with/without subsequent stereotactic radiosurgery or surgery was 72.7%. Eudragit-E caused two cases of cerebral infarction. One case of intracerebral hemorrhage due to postoperative hemodynamic changes also occurred. The rate of complications directly related to embolization was 10.0%. The safety and effectiveness of Eudragit-E embolization were satisfactory. PMID:25739432

  16. Anorectal Malformations: Finding the Pathway out of the Labyrinth.

    PubMed

    Alamo, Leonor; Meyrat, Blaise J; Meuwly, Jean-Yves; Meuli, Reto A; Gudinchet, François

    2013-01-01

    Anorectal malformations (ARMs) are a complex group of congenital anomalies involving the distal anus and rectum, as well as the urinary and genital tracts in a significant number of cases. Most ARMs result from abnormal development of the urorectal septum in early fetal life. In most cases, the anus is not perforated and the distal enteric component ends blindly (atresia) or as a fistula into the urinary tract, genital tract, or perineum. ARMs are also present in a great number of syndromes and associations of congenital anomalies. The classification of ARMs is mainly based on the position of the rectal pouch relative to the puborectal sling, the presence or absence of fistulas, and the types and locations of the fistulas. All of this information is crucial in determining the most appropriate surgical approach for each case. Imaging studies play a key role in evaluation and classification of ARMs. In neonates, clinical and radiologic examinations in the first 3 days of life help determine the type of ARM and the need for early colostomy. In older children, preoperative pelvic magnetic resonance imaging is the most efficient diagnostic method for evaluating the size, morphology, and grade of development of the sphincteric musculature. PMID:23479709

  17. Congenital malformations and genetic diseases in comic books.

    PubMed

    Mégarbané, A; Adib, S M

    2003-01-01

    Medical syndromes have often been represented in fine arts, but rarely have clinical diagnoses been discussed in comic book characters. Since their first appearance in Europe in the middle of the 19th century and in America in 1895, comic books have been considered as "the 9th art". In many comic books, the appearance and/or the behavior of central or support characters are suggestive of already well-defined medical disorders. The representation of five particular groups or clinical features: mental retardation, abnormal stature, abnormal hair, obesity, and cranial malformations is discussed from mostly European comic series. Whether comic authors intended to describe specific clinical entities while drawing their characters or whether such situations appeared by mere luck, is open to debate. In many series from the first half of the 20th century characters with remarkable clinical features were also painted as psycho-social deviants. Such stereotypes are found much less frequently nowadays. Writers of comic books, realizing the major impact of their work especially in adolescent age groups, have increasingly been using their series to actually promote issues of equity and well being for physically or mentally impaired people. PMID:12725585

  18. Limited PCB antagonism of TCDD-induced malformations in mice

    SciTech Connect

    Morrissey, R.E.; Harris, M.W.; Diliberto, J.J.; Birnbaum, L.S.

    1992-01-01

    Mice used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day with hexachlorobiphenyl (HCB) and/or with tetrachlorodibenzo-p-dioxin (TCDD) to investigate the potential protective effects of HCB against TCDD-induced teratogenicity. At the doses used in the study, there was no effect of either compound on number of live or dead offspring. Fetal body weight was slightly decreased in all groups dosed with = or > 250 mg HCB/kg. HCB did not induce cleft palate at a dose of 1000 mg/kg, but did induce increases in hydronephrosis and hydroureter at 500 and 1000 mg/kg. Combinations of HCB and TCDD decreased the incidence of cleft palate induced by TCDD alone, but only at doses of 15 microgram TCDD/kg combined with 125-500 mg HCB/kg. The window for antagonism of hydronephrosis (incidence and severity) appeared narrower (15 microgram TCDD/kg + 500 mg HCB/kg). HCB induced increases (3 fold) in EROD activity at doses of 500 and 1000 mg/kg, suggesting that the limited antagonism of TCDD teratogenicity by HCB would be consistent with control by Ah receptor. (Copyright (c) 1992 Elsevier Science Publishers B.V.)

  19. Mortality from Circulatory System Diseases and Malformations in Children in the State of Rio de Janeiro

    PubMed Central

    Salim, Thais Rocha; Soares, Gabriel Porto; Klein, Carlos Henrique; de Oliveira, Glaucia Maria Moraes

    2016-01-01

    Background The epidemiological profile of mortality in a population is important for the institution of measures to improve health care and reduce mortality Objective To estimate mortality rates and the proportional mortality from cardiovascular diseases and malformations of the circulatory system in children and adolescents. Methods This is a descriptive study of mortality from cardiovascular diseases, malformations of the circulatory system, from all causes, ill-defined causes and external causes in children and adolescents in the state of Rio de Janeiro from 1996 to 2012. Populations were obtained from the Brazilian Institute of Geography and Statistics (Instituto Brasileiro de Geografia e Estatística - IBGE) and deaths obtained from the Department of Informatics of the Unified Health System (DATASUS)/Ministry of Health. Results There were 115,728 deaths from all causes, 69,757 in males. The annual mortality from cardiovascular diseases was 2.7/100,000 in men and 2.6/100,000 in women. The annual mortality from malformations of the circulatory system was 7.5/100,000 in men and 6.6/100,000 in women. Among the specific causes of circulatory diseases, cardiomyopathies had the highest rates of annual proportional mortality, and from malformations of the circulatory system, it occurred due to unspecified malformations of the circulatory system, at all ages and in both genders. Conclusion Mortality from malformations of the circulatory system was most striking in the first years of life, while cardiovascular diseases were more relevant in adolescents. Low access to prenatal diagnosis or at birth probably prevented the proper treatment of malformations of the circulatory system. PMID:27192384

  20. Malformations and mortality in the Asian Common Toad induced by exposure to pleurolophocercous cercariae (Trematoda: Cryptogonimidae).

    PubMed

    Jayawardena, Uthpala A; Tkach, Vasyl V; Navaratne, Ayanthi N; Amerasinghe, Priyanie H; Rajakaruna, Rupika S

    2013-06-01

    Malformations and increased mortality due to infection by the digenetic trematode, Riberioa ondatrae have been reported for many species of amphibians. Severe malformations have also been reported in the Common Hourglass Tree Frog, Polypedates cruciger induced by pleurolophocercous cercariae in Sri Lanka in addition to the changes in the behaviour, development and survival of the host. We exposed pre-limb bud stage tadpoles (Gosner stages 25-26) of the Asian Common Toad, Duttaphrynus melanostictus to the same pleurolophocercous type cercariae under laboratory conditions. Molecular and morphological identification showed that these cercariae belonged Acanthostomum burminis infecting freshwater snakes as definitive hosts. These cercariae induced malformations (27.8%) and reduced survival to metamorphosis (53.8%). The magnitude of the effects increased with the dose of cercariae. Types of malformations were mainly axial, such as scoliosis and kyphosis. Severe limb malformations such as extra or missing limbs as reported for amphibians exposed to R. ondatrae were not observed in the D. melanostictus. Same authors reported a higher percentage of malformations previously when P. cruciger was exposed to the cercariae A. burminis compared to D. melanostictus. However, tadpoles of D. melanostictus, which are smaller compared to those of P. cruciger, experienced higher mortality than P. cruciger tadpoles. Trematode induced malformations and mortality in amphibians are highly variable and depend on multiple factors such as host species differences such as resistance to infection and tolerance, life-history characteristics such as size at metamorphosis and length of the metamorphosis period, and other factors such as size of the amphibian at the time of trematode exposure. PMID:23353759

  1. Parasite (Ribeiroia ondatrae) infection linked to amphibian malformations in the western United States

    USGS Publications Warehouse

    Johnson, P.T.J.; Lunde, K.B.; Thurman, E.M.; Ritchie, E.G.; Wray, S.N.; Sutherland, D.R.; Kapfer, J.M.; Frest, T.J.; Bowerman, J.; Blaustein, A.R.

    2002-01-01

    Parasites and pathogens can influence the survivorship, behavior, and very structure of their host species. For example, experimental studies have shown that trematode parasites can cause high frequencies of severe limb malformations in amphibians. In a broad-scale field survey covering parts of California, Oregon, Washington, Idaho, and Montana, we examined relationships between the frequency and types of morphological abnormalities in amphibians and the abundance of trematode parasite infection, pH, concentrations of 61 pesticides, and levels of orthophosphate and total nitrate. We recorded severe malformations at frequencies ranging from 1% to 90% in nine amphibian species from 53 aquatic systems. Infection of larvae by the trematode Ribeiroia ondatrae was associated with, and functionally related to, higher frequencies of amphibian limb malformations than found in uninfected populations (???5%). Parasites were concentrated around the basal tissue of hind limbs in infected anurans, and malformations associated with infection included skin webbings, supernumerary limbs and digits, and missing or malformed hind limbs. In the absence of Ribeiroia, amphibian populations exhibited low (0-5%) frequencies of abnormalities involving missing digits or distal portions of a hind limb. Species were affected differentially by the parasite, and Ambystoma macrodactylum, Hyla regilla, Rand aurora, R. luteiventris, and Taricha torosa typically exhibited the highest frequencies of abnormalities. None of the water-quality variables measured was associated with malformed amphibians, but aquatic snail hosts (Planorbella spp.) were significant predictors of the presence and abundance of Ribeiroia infection. Morphological comparisons of adult specimens of Ribeiroia collected from different sites and raised in experimental definitive hosts suggested that all samples represented the same species - R. ondatrae. These field results, coupled with experimental research on the effects of

  2. Epidemiologic Research on Malformations Associated with Cleft Lip and Cleft Palate in Japan

    PubMed Central

    Koga, Hiroshi; Iida, Koichi; Maeda, Tomoki; Takahashi, Mizuho; Fukushima, Naoki; Goshi, Terufumi

    2016-01-01

    To investigate malformations associated with cleft lip and cleft palate, we conducted surveys at neonatal intensive care units (NICUs) and other non-NICU facilities and to determine whether there are differences among facilities. The regional survey investigated NICU facilities located in Oita Prefecture, including 92 patients with cleft lip and palate (CLP) or cleft palate (CP) that occurred between 2004 and 2013, and the national survey investigated oral surgery, plastic surgery, and obstetrics and gynecology facilities located in Japan, including 16,452 patients with cleft lip (CL), CLP, or CP that occurred since 2000. The incidence per 10,000 births was 4.2, 6.2, and 2.8 for CL, CLP, and CP, respectively, according to the national survey, and 6.3 and 2.9 for CLP and CP, respectively according to the regional survey. These results indicated comparable incidences between the two surveys. In contrast, when the survey results on malformations associated with CLP and CP according to the ICD-10 classification were compared between the national survey conducted at oral surgery or plastic surgery facilities and the regional survey conducted at NICU facilities, the occurrence of associated malformations was 19.8% vs. 41.3% for any types of associated malformation, 6.8% vs. 21.7% for congenital heart disease, and 0.5% vs. 16.3% for chromosomal abnormalities. These results indicated that the incidences of all of these associated malformations were significantly greater in the survey conducted at NICU facilities and similar to the findings from international epidemiological surveys. When comparing the survey conducted at obstetrics facilities vs. NICU facilities, the occurrence of associated malformations was similar results as above. The incidence of CLP and CP was not different between surveys conducted at NICU facilities vs. non-NICU facilities; however, when conducting surveys on associated malformations, it is possible to obtain accurate epidemiological data by

  3. Split cord malformations: A two years experience at AIIMS

    PubMed Central

    Borkar, Sachin A.; Mahapatra, A. K.

    2012-01-01

    Background: Over a 2-year period, 2008-2009, a total of 53 cases of split cord malformation (SCM) were treated at the All India Institute of Medical Sciences (AIIMS). This study is a retrospective analysis of clinical features, radiological findings, and surgical outcome of these patients. Materials and Methods: During this period, 53 cases of SCM were treated at AIIMS. They constitute around 27% of all spinal dysraphism surgeries performed at the department of Neurosurgery, AIIMS; as 200 cases of spinal dysraphism were operated during the study period. The data was obtained from case files, operation notes, discharge summaries, and follow-up files. Observations: There were 30 cases of SCM type I and 23 cases of type II SCM. Seven patients were adult above 18 years of age. Except 7 patients, remaining 46 were symptomatic. Bony deformity of spine was recorded in 24 patients; of them, 19 had scoliosis and 4 had kyphosis. Deformity of foot was recorded in 10 patients. Thirteen patients had hypertrichosis, while four had dermal sinus. Magnetic resonance imaging (MRI) was performed in all patients. MRI revealed syringomyelia in 14 patients; however, only one patient had associated Chiari malformation. Six patients had meningomyelocele. Intra-operative; thick filum was noticed in 10 cases and in another 9 cases, there was filum lipoma. Dermoid was encountered in 4 patients, one patient had epidermoid tumor. Site of split was thoracic in 22, followed by lumbar region in 21 patients. Only 3 patients had split in cervical spinal cord. Seven patients had two separate splits at two different levels. Two patients had posteriorly located bony spur. All patients underwent surgery. Seven patients, those who had no neurological deficits pre-op, remained unchanged post-op. Amongst the 46 patients who had preoperative neurological deficits, eight had neurological deterioration post-op; five had deterioration in motor power and three had urinary problem. Five of these patients had

  4. Risk of cerebral arteriovenous malformation rupture during pregnancy and puerperium

    PubMed Central

    Wang, Shuo; Zhao, Yuan-li; Teo, Mario; Guo, Peng; Zhang, Dong; Wang, Rong; Cao, Yong; Ye, Xun; Kang, Shuai

    2014-01-01

    Objective: To determine whether the risk of arteriovenous malformation (AVM) rupture is increased during pregnancy and puerperium. Methods: Participants included 979 female patients with intracranial AVM admitted to Beijing Tiantan Hospital between 1960 and 2010. Two neurosurgery residents reviewed medical records for each case. Of them, 393 patients with ruptured AVM between 18 and 40 years of age were used for case-crossover analysis. Number of children born and clinical information during pregnancy and puerperium were retrieved to identify whether AVM rupture occurred during this period. Results: Of the 979 women, 797 hemorrhages occurred during 25,578 patient-years of follow-up, yielding an annual hemorrhage rate of 3.11%. The annual AVM hemorrhage rate in patients aged 18 to 40 years (n = 579) was 2.78%, lower than the rate in other age groups (odds ratio = 0.75, 95% confidence interval 0.65–0.86, p < 0.05). Of the 393 patients with rupture of AVM aged 18 to 40 years, 12 hemorrhages occurred in 12 patients over 452 pregnancies, yielding a hemorrhage rate of 2.65% per pregnancy or 3.32% per year. Among the remaining 381 patients, 441 hemorrhages occurred during 10,627 patient-years of follow-up, yielding an annual hemorrhage rate of 4.14%. The odds ratio for rupture of AVM during pregnancy and puerperium, compared with the control period, was 0.71 (95% confidence interval 0.61–0.82). Conclusions: No increased risk of hemorrhage was found in patients with cerebral AVM during pregnancy and the puerperium. We therefore would not advise against pregnancy in women with intracranial AVM. PMID:24759847

  5. Outcome of cerebral arteriovenous malformations after linear accelerator reirradiation

    PubMed Central

    Moraes, Paulo L.; Dias, Rodrigo S.; Weltman, Eduardo; Giordani, Adelmo J.; Benabou, Salomon; Segreto, Helena R. C.; Segreto, Roberto A.

    2015-01-01

    Background: The aim of this study was to evaluate the clinical outcome of patients undergoing single-dose reirradiation using the Linear Accelerator (LINAC) for brain arteriovenous malformations (AVM). Methods: A retrospective study of 37 patients with brain AVM undergoing LINAC reirradiation between April 2003 and November 2011 was carried out. Patient characteristics, for example, gender, age, use of medications, and comorbidities; disease characteristics, for example, Spetzler–Martin grading system, location, volume, modified Pollock–Flickinger score; and treatment characteristics, for example, embolization, prescription dose, radiation dose–volume curves, and conformity index were analyzed. During the follow-up period, imaging studies were performed to evaluate changes after treatment and AVM cure. Complications, such as edema, rupture of the blood–brain barrier, and radionecrosis were classified as symptomatic and asymptomatic. Results: Twenty-seven patients underwent angiogram after reirradiation and the percentage of angiographic occlusion was 55.5%. In three patients without obliteration, AVM shrinkage made it possible to perform surgical resection with a 2/3 cure rate. A reduction in AVM nidus volume greater than 50% after the first procedure was shown to be the most important predictor of obliteration. Another factor associated with AVM cure was a prescription dose higher than 15.5 Gy in the first radiosurgery. Two patients had permanent neurologic deficits. Factors correlated with complications were the prescription dose and maximum dose in the first procedure. Conclusion: This study suggests that single-dose reirradiation is safe and feasible in partially occluded AVM. Reirradiation may not benefit candidates whose prescribed dose was lower than 15.5 Gy in the first procedure and initial AVM nidus volume did not decrease by more than 50% before reirradiation. PMID:26110078

  6. Human gene copy number spectra analysis in congenital heart malformations.

    PubMed

    Tomita-Mitchell, Aoy; Mahnke, Donna K; Struble, Craig A; Tuffnell, Maureen E; Stamm, Karl D; Hidestrand, Mats; Harris, Susan E; Goetsch, Mary A; Simpson, Pippa M; Bick, David P; Broeckel, Ulrich; Pelech, Andrew N; Tweddell, James S; Mitchell, Michael E

    2012-05-01

    The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical approach permitting CNV gene frequency "spectra" to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = 880). Gains (≥200 kb) and losses (≥100 kb) were determined over 100 CHD risk genes and compared using a Barnard exact test. Six subphenotypes showed significant enrichment (P ≤ 0.05), including aortic stenosis (valvar), atrioventricular canal (partial), atrioventricular septal defect with tetralogy of Fallot, subaortic stenosis, tetralogy of Fallot, and truncus arteriosus. Furthermore, CNV gene frequency spectra were enriched (P ≤ 0.05) for losses at: FKBP6, ELN, GTF2IRD1, GATA4, CRKL, TBX1, ATRX, GPC3, BCOR, ZIC3, FLNA and MID1; and gains at: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, HRAS, GATA6 and RUNX1. Of CHD subjects, 14% had causal chromosomal abnormalities, and 4.3% had likely causal (significantly enriched), large, rare CNVs. CNV frequency spectra combined with precision phenotyping may lead to increased molecular understanding of etiologic pathways. PMID:22318994

  7. The technical evolution of gamma knife radiosurgery for arteriovenous malformations.

    PubMed

    Lunsford, L Dade; Niranjan, Ajay; Kano, Hideyuki; Kondziolka, Douglas

    2013-01-01

    Gamma Knife stereotactic radiosurgery was first applied for the treatment of an intracranial arteriovenous malformation (AVM) in 1968. Using biplane angiography to target a small-volume, deep-seated lesion, photons were cross-fired on the pathological shunt. The AVM was obliterated within 3 years. This began a cautious introduction of Gamma Knife radiosurgery in the 1970s. As the Gamma Knife technology spread to sites in Europe, South America and the USA in the 1980s, AVM radiosurgery became a primary indication. During the early years the usual standard was to deliver a single radiosurgical isocenter to the target defined by 2-dimensional angiography. Most patients had small-volume AVMs unsuitable for surgical excision. Over time the technique of Gamma Knife AVM surgery evolved to include: careful patient selection, discussion of appropriate treatment strategies, anticonvulsant administration for lobar locations and intraoperative targeting using both high-resolution axial plane imaging--usually magnetic resonance imaging--coupled with biplane digital subtraction angiography. High-speed computer dose planning integrated with more detailed imaging strategies facilitated conformal radiation delivery in a single treatment session coupled with high selectivity of the dose delivered. Multiple isocenters became routine. Long-term follow-up care included serial imaging evaluations to assess the response and to detect complications. Imaging was critical to confirm the desired radiobiological response--complete obliteration. Long-term follow-up after obliteration confirmed that AVM radiosurgery had a high success rate for properly selected patients and a risk-benefit profile that substantiated patient safety. Twenty-year results after Gamma Knife radiosurgery for AVMs are currently available. Established roles have been found for pediatric cases and for larger-volume AVMs unsuitable for surgical removal. The role and technique of embolization prior to radiosurgery continue

  8. High-resolution MR venography of cerebral arteriovenous malformations.

    PubMed

    Essig, M; Reichenbach, J R; Schad, L R; Schoenberg, S O; Debus, J; Kaiser, W A

    1999-12-01

    The purpose of this study was to evaluate the diagnostic potential of a high-resolution magnetic resonance (MR) venography technique in patients with cerebral arteriovenous malformations (AVMs). A high-resolution 3D gradient echo sequence was used with a long echo time TE to obtain venous information down to sub-pixel sized vessel diameters of several hundred microns. The method is based on the paramagnetic property of deoxyhemoglobin, and the resulting developing phase difference between veins and brain parenchyma at long echo times which leads to signal cancellation. The reconstructed venograms were compared with time-of-flight (TOF)-MR angiography using qualitative and quantitative criteria with the conventional digital subtraction angiography serving as the reference gold standard. In 17 patients with angiographically proven cerebral AVMs, the method indicates its potential in clinical applications. Venography was able to detect all AVMs whereas TOF-MRA failed in three patients. In the delineation of venous drainage patterns MR venography was superior to TOF-MRA, however, the method failed in the detection of about half of the main feeding arteries, as expected. Due to susceptibility artifacts at air/tissue boundaries and interference with paramagnetic hemosiderin, venography was limited with respect to the delineation of the exact nidus sizes and shapes in ten patients with AVMs located close to the skull base or having suffered from previous bleeding. Although the visualization of draining veins represents an important prerequisite in the surgical and radiosurgical treatment planning of cerebral AVMs, application of high resolution MR venography may be limited in the diagnostic work-up in some of these patients. On the other hand, it may be of special importance in the early detection and assessment of small AVMs that are difficult to diagnose with other MR methods. PMID:10609990

  9. Bone deformities and skeletal malformations in the Roman Imperial Age.

    PubMed

    Minozzi, Simona; Catalano, Paola; Pantano, Walter; Caldarini, Carla; Fornaciari, Gino

    2014-01-01

    This paper describes some cases of individuals affected by skeletal deformities resulting in "freak" appearance. The skeletal remains were found during large archaeological excavations in the Roman territory, carried out by the Special Superintendence to the Archeological Heritage of Rome in the last years, dated back to the Imperial Age. The first cases reported are referred to two growth disorders with opposite effects: a case of dwarfism and another of gigantism. The former concerns a young man from the Collatina necropolis with very short and malformed limbs, which allowed a diagnosis of acondroplasic dwarfism, a rare congenital disorder that limits height below 130 cm. The latter case comes from the necropolis of Torre Serpentana in Fidenae, and is instead referred to a young person of very high stature, about 204 cm, suffering from Gigantism, a rare condition which in this case seems to have been linked to a hormonal dysfunction due to a pituitary adenoma. A third case regards a joint disease affecting the vertebral column and causing severe deformities. The skeleton was found in the Collatina necropolis and belongs to an old woman, suffering from ankylosing spondylitis. Finally, the last and very peculiar case is related to an individual recovered in the necropolis of Castel Malnome. The skeletal remains belong to an adult man with a complete fusion of the temporo-mandibular joint, which compromised mastication and caused severe deformation of the maxillofacial complex. These cases are described in detail together with the possible implications that these deformities could have on in the social context. PMID:25702379

  10. Stereological and Morphometric Analysis of MRI Chiari Malformation Type-1

    PubMed Central

    Alkoç, Ozan Alper; Songur, Ahmet; Eser, Olcay; Toktas, Muhsin; Esi, Ertap; Haktanir, Alpay

    2015-01-01

    Objective In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results Tonsillar herniation length was measured 9.09±3.39 mm below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition. PMID:26713146

  11. Dynamic contrast-enhanced MRI evaluation of cerebral cavernous malformations.

    PubMed

    Hart, Blaine L; Taheri, Saeid; Rosenberg, Gary A; Morrison, Leslie A

    2013-10-01

    The aim of this study is to quantitatively evaluate the behavior of CNS cavernous malformations (CCMs) using a dynamic contrast-enhanced MRI (DCEMRI) technique sensitive for slow transfer rates of gadolinium. The prospective study was approved by the institutional review board and was HIPPA compliant. Written informed consent was obtained from 14 subjects with familial CCMs (4 men and 10 women, ages 22-76 years, mean 48.1 years). Following routine anatomic MRI of the brain, DCEMRI was performed for six slices, using T1 mapping with partial inversion recovery (TAPIR) to calculate T1 values, following administration of 0.025 mmol/kg gadolinium DTPA. The transfer rate (Ki) was calculated using the Patlak model, and Ki within CCMs was compared to normal-appearing white matter as well as to 17 normal control subjects previously studied. All subjects had typical MRI appearance of CCMs. Thirty-nine CCMs were studied using DCEMRI. Ki was low or normal in 12 lesions and elevated from 1.4 to 12 times higher than background in the remaining 27 lesions. Ki ranged from 2.1E-6 to 9.63E-4 min(-1), mean 3.55E-4. Normal-appearing white matter in the CCM patients had a mean Ki of 1.57E-4, not statistically different from mean WM Ki of 1.47E-4 in controls. TAPIR-based DCEMRI technique permits quantifiable assessment of CCMs in vivo and reveals considerable differences not seen with conventional MRI. Potential applications include correlation with biologic behavior such as lesion growth or hemorrage, and measurement of drug effects. PMID:24323376

  12. Familial Incidence of Cardiovascular Malformations in Hypoplastic Left Heart Syndrome.

    PubMed

    Kelle, Angela M; Qureshi, Muhammad Y; Olson, Timothy M; Eidem, Benjamin W; O'Leary, Patrick W

    2015-12-01

    Obstructive left-sided congenital heart lesions exhibit familial clustering, and familial echocardiographic screening for bicuspid aortic valve has become standard practice. Hypoplastic left heart syndrome (HLHS) is a severe left-sided obstructive lesion; however, familial screening is not universally recommended. The purpose of this study was to define the incidence of cardiovascular malformations (CVMs) in first-degree relatives of HLHS probands. First-degree relatives were screened for CVM by transthoracic echocardiography. Screening was completed in 152 family members (97 parents and 55 siblings) of 52 probands. Of these, 17 of 152 (11%) had CVM. Anomalies detected included: bicuspid aortic valve in 5 (3%), isolated dilated ascending aorta in 4 (3%), coarctation of the aorta in 1, partial anomalous pulmonary venous connection in 1, anomalous, intramural coronary artery in 1, bicuspid pulmonary valve in 1, and other anomalies in 4. Most were previously undiagnosed (11 of 17, 65%). Fourteen of 52 families (27%) had ≥1 relative with CVM. Overall, 7 of 55 siblings (13%), 5 of 46 fathers (11%) and 5 of 51 mothers (10%) had CVM. Although the incidence of CVM in first-degree relatives of HLHS probands was lower in this cohort than previously reported, it remained substantial, with at least one additional member having CVM in 27% of families. The frequent occurrence of undiagnosed CVM highlights the importance of routine familial screening in HLHS. In fact, even if screening was done in childhood, it may be appropriate to screen again in the third or fourth decade to exclude isolated enlargement of the ascending aorta. PMID:26433269

  13. Embolisation of Small (< 3 cm) Brain Arteriovenous Malformations

    PubMed Central

    Willinsky, R.; Goyal, M.; terBrugge, K.; Montanera, W.; Wallace*, M.G; Tymianski*, M.

    2001-01-01

    Summary The role of embolisation in the treatment of small (< 3cm) brain arteriovenous malformations (AVMs) has not been elucidated. We reviewed our experience using embolisation in the treatment of small AVMs and correlated a proposed grading system based on the angioarchitecture to the percentage obliteration achieved by embolisation. Eighty-one small AVMs in 80 patients were embolised from 1984 to 1999. The age range was from 3 to 72 years. The AVMs were given a score from 0 to 6 based on the angioarchitecture. The assigned scores were as follows: nidus (fistula = 0, < 1 cm = 1,1-3 cm = 2), type of feeding arteries (cortical = 0, perforator or choroidal = 1), number of feeding arteries (single = 0, multiple -2) and number of draining veins (single = 0\\ multiple - 1). Angiographic results based on percentage obliteration were grouped into three categories: complete, 66-99%, and 0-65%. The goal of embolisation was cure in 27 AVMs, pre-surgical in 23, pre-radiosurgery in 26, and elimination of an aneurysm in five. Embolisation achieved complete obliteration in 22 (27%) of the 81 AVMs. In the AVMs where the goal was cure, 19 (70%) of 27 were completely obliterated. In the AVMs with angioarchitecture scores of 0-2, 12 (86%) of 14 were cured, with scores of 3-4, 8 (34%) of 24 were cured and with scores of 5-6, 2 (4%) of 44 were cured. Embolisation resulted in transient morbidity of 5.0%, permanent morbidity of 2.5%, and mortality of 1.2%. There were no complications in AVMs with scores of 0-2. Embolisation is an effective treatment of small AVMs when the angioarchitecture is favourable (scores 0-2). This includes pure fistulas and AVMs with a single, pial, feeding artery. PMID:20663327

  14. Human gene copy number spectra analysis in congenital heart malformations

    PubMed Central

    Mahnke, Donna K.; Struble, Craig A.; Tuffnell, Maureen E.; Stamm, Karl D.; Hidestrand, Mats; Harris, Susan E.; Goetsch, Mary A.; Simpson, Pippa M.; Bick, David P.; Broeckel, Ulrich; Pelech, Andrew N.; Tweddell, James S.; Mitchell, Michael E.

    2012-01-01

    The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical approach permitting CNV gene frequency “spectra” to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = 880). Gains (≥200 kb) and losses (≥100 kb) were determined over 100 CHD risk genes and compared using a Barnard exact test. Six subphenotypes showed significant enrichment (P ≤ 0.05), including aortic stenosis (valvar), atrioventricular canal (partial), atrioventricular septal defect with tetralogy of Fallot, subaortic stenosis, tetralogy of Fallot, and truncus arteriosus. Furthermore, CNV gene frequency spectra were enriched (P ≤ 0.05) for losses at: FKBP6, ELN, GTF2IRD1, GATA4, CRKL, TBX1, ATRX, GPC3, BCOR, ZIC3, FLNA and MID1; and gains at: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, HRAS, GATA6 and RUNX1. Of CHD subjects, 14% had causal chromosomal abnormalities, and 4.3% had likely causal (significantly enriched), large, rare CNVs. CNV frequency spectra combined with precision phenotyping may lead to increased molecular understanding of etiologic pathways. PMID:22318994

  15. Stereotactic radiosurgery for arteriovenous malformations of the brain

    SciTech Connect

    Lunsford, L.D.; Kondziolka, D.; Flickinger, J.C.; Bissonette, D.J.; Jungreis, C.A.; Maitz, A.H.; Horton, J.A.; Coffey, R.J. )

    1991-10-01

    Stereotactic radiosurgery successfully obliterates carefully selected arteriovenous malformations (AVM's) of the brain. In an initial 3-year experience using the 201-source cobalt-60 gamma knife at the University of Pittsburgh, 227 patients with AVM's were treated. Symptoms at presentation included prior hemorrhage in 143 patients (63%), headache in 104 (46%), and seizures in 70 (31%). Neurological deficits were present in 102 patients (45%). Prior surgical resection (resulting in subtotal removal) had been performed in 36 patients (16%). In 47 selected patients (21%), embolization procedures were performed in an attempt to reduce the AVM size prior to radiosurgery. The lesions were classified according to the Spetzler grading system: 64 (28%) were Grade VI (inoperable), 22 (10%) were Grade IV, 90 (40%) were Grade III, 43 (19%) were Grade II, and eight (4%) were Grade I. With the aid of computer imaging-integrated isodose plans for single-treatment irradiation, total coverage of the AVM nidus was possible in 216 patients (95%). The location and volume of the AVM were the most important factors for the selection of radiation dose. Magnetic resonance (MR) imaging was performed at 6-month intervals in 161 patients. Seventeen patients who had MR evidence of complete obliteration underwent angiography within 3 months of imaging: in 14 (82%) complete obliteration was confirmation being 4 months (mean 17 months) after radiosurgery. The 2-year obliteration rates according to volume were: all eight (100%) AVM's less than 1 cu cm; 22 (85%) of 26 AVM's of 1 to 4 cu cm; and seven (58%) of 12 AVM's greater than 4 cu cm. Magnetic resonance imaging revealed postirradiation changes in 38 (24%) of 161 patients at a mean interval of 10.2 months after radiosurgery; only 10 (26%) of those 38 patients were symptomatic.

  16. Aberrant Lymphatic Endothelial Progenitors in Lymphatic Malformation Development

    PubMed Central

    Wu, June K.; Kitajewski, Christopher; Reiley, Maia; Keung, Connie H.; Monteagudo, Julie; Andrews, John P.; Liou, Peter; Thirumoorthi, Arul; Wong, Alvin

    2015-01-01

    Lymphatic malformations (LMs) are vascular anomalies thought to arise from dysregulated lymphangiogenesis. These lesions impose a significant burden of disease on affected individuals. LM pathobiology is poorly understood, hindering the development of effective treatments. In the present studies, immunostaining of LM tissues revealed that endothelial cells lining aberrant lymphatic vessels and cells in the surrounding stroma expressed the stem cell marker, CD133, and the lymphatic endothelial protein, podoplanin. Isolated patient-derived CD133+ LM cells expressed stem cell genes (NANOG, Oct4), circulating endothelial cell precursor proteins (CD90, CD146, c-Kit, VEGFR-2), and lymphatic endothelial proteins (podoplanin, VEGFR-3). Consistent with a progenitor cell identity, CD133+ LM cells were multipotent and could be differentiated into fat, bone, smooth muscle, and lymphatic endothelial cells in vitro. CD133+ cells were compared to CD133− cells isolated from LM fluids. CD133− LM cells had lower expression of stem cell genes, but expressed circulating endothelial precursor proteins and high levels of lymphatic endothelial proteins, VE-cadherin, CD31, podoplanin, VEGFR-3 and Prox1. CD133− LM cells were not multipotent, consistent with a differentiated lymphatic endothelial cell phenotype. In a mouse xenograft model, CD133+ LM cells differentiated into lymphatic endothelial cells that formed irregularly dilated lymphatic channels, phenocopying human LMs. In vivo, CD133+ LM cells acquired expression of differentiated lymphatic endothelial cell proteins, podoplanin, LYVE1, Prox1, and VEGFR-3, comparable to expression found in LM patient tissues. Taken together, these data identify a novel LM progenitor cell population that differentiates to form the abnormal lymphatic structures characteristic of these lesions, recapitulating the human LM phenotype. This LM progenitor cell population may contribute to the clinically refractory behavior of LMs. PMID:25719418

  17. A long-Segmental Vascular Malformation in the Small Bowel Presenting With Gastrointestinal Bleeding in a Preschool-Aged Child

    PubMed Central

    Lee, Yeoun Joo; Hwang, Jae-Yeon; Cho, Yong Hoon; Kim, Yong-Woo; Kim, Tae Un; Shin, Dong Hoon

    2016-01-01

    Gastrointestinal (GI) bleeding in pediatric patients has several causes. Vascular malformation of the small bowel is a rare disease leading to pediatric GI bleeding. To our knowledge, few reports describe ultrasound and computed tomography findings of venous malformations involving the small bowel. We present a case of long-segmental and circumferential vascular malformation that led to GI bleeding in a pre-school aged child, focusing on the radiologic findings. Although vascular malformation including of the GI tract is rare in children, it should be considered when GI bleeding occurs in pediatric patients. PMID:27110342

  18. Increased incidence of spontaneous malformations in pups and increased litter size from pinealectomized dams.

    PubMed

    Kachi, Takashi; Tanaka, Dai; Watanabe, Seiji; Suzuki, Reiko; Tonosaki, Yoshikazu

    2004-06-01

    The aim of the present study was to clarify whether maternal pinealectomy increases: (i) the incidence of spontaneous malformations in offspring; and (ii) litter size. More than 30 female rats in each of the control groups (normal and sham-pinealectomized) and the pinealectomized group were mated repeatedly with normal male rats and pups were autopsied mostly before weaning. No malformations were seen in offspring from the normal and sham-pinealectomized groups (n = 350 and n = 736, respectively). In contrast, in offspring from pinealectomized mothers (n = 1123), spontaneous malformations were found in five (taillessness in three and unilateral hydronephrosis or large renal cyst in the other two) or maybe six (unilateral renal hypoplasia in another) pups. This increased incidence of malformations in the latter group was statistically significant (P < 0.034 or 0.017 (Fisher's exact test), respectively). The frequency of still-born cases was not higher in pups born from pinealectomized mothers. The mean litter size was larger in the pinealectomized group compared with the control groups (P < 0.005-0.001, Student's t-test) at the first delivery (at approximately 100 days of age), but was not different at later deliveries at older ages. Our results suggest that the maternal pineal hormone suppresses: (i) the incidence of spontaneous malformations in offspring until mothers reach an old age; and (ii) litter size during the reproductively maturational phase of life. PMID:15218625

  19. beta-amyloid protein of Alzheimer's disease is found in cerebral and spinal cord vascular malformations.

    PubMed Central

    Hart, M. N.; Merz, P.; Bennett-Gray, J.; Menezes, A. H.; Goeken, J. A.; Schelper, R. L.; Wisniewski, H. M.

    1988-01-01

    Congo/Red deposition with birefringence to polarized light was demonstrated focally in cerebrovascular malformations removed surgically from 4 older patients (ages 85, 74, 74, and 63), and in a spinal cord vascular malformation in a 76-year-old patient. Lesser degrees of Congophilic change were observed in cerebrovascular malformations screened from 4 of 10 patients between the ages of 30 and 59. No Congophilic change was seen in 10 cerebrovascular malformations removed from patients under 30 years of age. Congophilic areas in all cases decorated with W-2 and 85/45 polyclonal antibodies raised to peptide sequences of cerebrovascular beta-amyloid and beta-amyloid of senile plaques from patients with Alzheimer's disease. Thus, the amyloid in these vascular malformations is immunologically related to beta-amyloid protein. This finding provides another indication that vascular beta-amyloid deposition is not specific for Alzheimer's disease and suggests that an existing abnormality of vessels may be a predisposing factor. Images Figure 1 Figure 2A Figure 2B Figure 3 Figure 4 PMID:3293463

  20. Pregnancy exposure to olanzapine, quetiapine, risperidone, aripiprazole and risk of congenital malformations. A systematic review.

    PubMed

    Ennis, Zandra Nymand; Damkier, Per

    2015-04-01

    To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first-trimester exposure and pregnancy outcome with respect to congenital malformations. Cumulated data for olanzapine were 1090 first-trimester-exposed pregnancies with 38 malformations resulting in a malformation rate of 3.5%. The corresponding numbers for quetiapine, risperidone and aripiprazole were 443/16 (3.6%), 432/22 (5.1%) and 100/5 (5.0%), respectively. Relative risk estimates and 95% confidence intervals were 1.0 (0.7-1.4) (olanzapine), 1.0 (0.6-1.7) (quetiapine), 1.5 (0.9-2.2) (risperidone) and 1.4 (0.5-3.1) (aripiprazole). First-trimester exposure to olanzapine is not associated with an increased risk of congenital malformation. Data for quetiapine and risperidone do not suggest a substantially increased risk, while the risk estimate for aripiprazole remains imprecise owing to a low amount of data. PMID:25536446

  1. Laser therapy and sclerotherapy in the treatment of oral and maxillofacial hemangioma and vascular malformations

    NASA Astrophysics Data System (ADS)

    Crişan, Bogdan; BǎciuÅ£, Mihaela; BǎciuÅ£, Grigore; Crişan, Liana; Bran, Simion; Rotar, Horatiu; Moldovan, Iuliu; Vǎcǎraş, Sergiu; Mitre, Ileana; Barbur, Ioan; Magdaş, Andreea; Dinu, Cristian

    2016-03-01

    Hemangioma and vascular malformations in the field of oral and maxillofacial surgery is a pathology more often found in recent years in patients. The aim of this study was to evaluate the efficacy of the laser photocoagulation performed with a diode laser (Ga-Al-As) 980 nm wavelength in the treatment of vascular lesions which are located on the oral and maxillofacial areas, using color Doppler ultrasonography for evaluation of the results. We also made a comparison between laser therapy and sclerotherapy in order to establish treatment protocols and recommendations associated with this pathology. We conducted a controlled study on a group of 92 patients (38 male and 54 female patients, with an average age of 36 years) having low flow hemangioma and vascular malformations. Patients in this trial received one of the methods of treatment for vascular lesions such as hemangioma and vascular malformations: laser therapy or sclerotherapy. After laser therapy we have achieved a reduction in size of hemangioma and vascular malformations treated with such a procedure, and the aesthetic results were favorable. No reperfusion or recanalization of laser treated vascular lesions was observed after an average follow-up of 6 to 12 months. In case of sclerotherapy a reduction in the size of vascular lesions was also obtained. The 980 nm diode laser has been proved to be an effective tool in the treatment of hemangioma and vascular malformations in oral and maxillofacial area. Laser therapy in the treatment of vascular lesions was more effective than the sclerotherapy procedure.

  2. Aphallia as part of urorectal septum malformation sequence in an infant of a diabetic mother.

    PubMed

    Gripp, K W; Barr, M; Anadiotis, G; McDonald-McGinn, D M; Zderic, S A; Zackai, E H

    1999-02-19

    A male patient with aphallia, anal stenosis, tetralogy of Fallot, multiple vertebral anomalies including sacral agenesis and central nervous system (CNS) malformations was born after a pregnancy complicated by poorly controlled maternal diabetes. Aphallia is an extremely rare abnormality and can be part of the urorectal septum malformation sequence (URSMS). While aphallia has not been reported in infants of diabetic mothers, urogenital malformations are known to occur with increased frequency. Two female products of pregnancies complicated by diabetes presented with multiple malformations including anal atresia and recto-vaginal fistula consistent with the diagnosis of URSMS. The three patients share CNS, cardiac, and vertebral anomalies, abnormalities secondary to abnormal blastogenesis and characteristic of diabetic embryopathy. URSMS is also caused by abnormal blastogenesis. Therefore, this particular malformation should be viewed in the context of the multiple blastogenetic abnormalities in the cases reported here. The overlap of findings of URSMS in our cases with other abnormalities of blastogenesis, such as VATER association or sacral agenesis is not surprising, as these associations are known to lack clear diagnostic boundaries. PMID:10069704

  3. Impaired cerebral vasoreactivity after embolization of arteriovenous malformations: assessment with serial acetazolamide challenge xenon CT

    SciTech Connect

    Tarr, R.W.; Johnson, D.W.; Horton, J.A.; Yonas, H.; Pentheny, S.; Durham, S.; Jungreis, C.A.; Hecht, S.T. )

    1991-05-01

    Embolization of a portion of the nidus of an arteriovenous malformation not only may alter hemodynamics within the nidus, but also may change blood flow dynamics in adjacent normal vessels. Sequential acetazolamide-challenge xenon CT cerebral blood flow studies were performed in eight patients before and after embolization of arteriovenous malformations to assess the hemodynamic effects on the major vascular territories supplying the malformation. Acetazolamide is a potent cerebral vasodilator, and its administration combined with cerebral blood flow studies allows assessment of cerebral vasoreactivity. In seven of the eight patients, one or more parenchymal areas exhibited a normal cerebral blood flow augmentation response to acetazolamide before embolization, but diminished acetazolamide flow augmentation was seen after embolization, indicating abnormal vasoreactivity. We found that the decrease in vasoreactivity peaked 6-10 days after embolization. In one of the eight patients, a temporary delayed neurologic deficit developed during a period of impaired cerebral vasoreactivity following embolization. Our results suggest that embolization of an arteriovenous malformation can induce vasoreactivity changes in adjacent normal vessels. Because these changes appear to be somewhat time-dependent, an appropriate interval should be observed between embolization stages or before surgical resection of an arteriovenous malformation following embolization to allow hemodynamic equilibration to occur. Acetazolamide challenge combined with serial cerebral blood flow studies following embolization enables determination of this hemodynamic equilibration.

  4. Cochlear implantation in patients with inner ear bone malformations with posterior labyrinth involvement: an exploratory study.

    PubMed

    Palomeque Vera, Juan Miguel; Platero Sánchez-Escribano, María; Gómez Hervás, Javier; Fernández Prada, María; González Ramírez, Amanda Rocío; Sainz Quevedo, Manuel

    2016-04-01

    Inner ear bone malformations are one cause of profound sensorineural hearing loss. This investigation focused on those affecting the posterior labyrinth, especially enlarged vestibular aqueduct syndrome, which is associated with fluctuating and progressive hearing loss. The objectives of this study were to analyze the behavior of the electrical stimulation, auditory functionality and linguistic development in patients with inner ear malformations involving the posterior labyrinth. The study included ten patients undergoing cochlear implantation (cases: five with enlarged vestibular aqueduct, two with vestibular aqueduct stenosis/aplasia, and three with semicircular canal disorders). Post-implantation, data were gathered on the electrical stimulation threshold and maximum comfort levels and on the number of functioning electrodes. Evaluation of Auditory Responses to Speech (EARS) subtests were used to assess auditory functionality and language acquisition at 6, 12, and 24 months post-implantation. Results were compared with findings in a control group of 28 cochlear implantation patients without these malformations. No significant differences were found between case and control groups in electrical stimulation parameters; auditory functionality subtest scores were lower in cases than controls, although the difference was only statistically significant for some subtests. In conclusion, cochlear implantation patients with posterior labyrinth bone malformations and profound hearing loss, including those with enlarged vestibular aqueduct syndrome, showed no significant difference in electrical stimulation threshold with controls. Although some auditory functionality test results were lower in cases than in controls, cochlear implantation appears to be beneficial for all patients with these malformations. PMID:25971996

  5. A fuzzy system for helping medical diagnosis of malformations of cortical development.

    PubMed

    Alayón, Silvia; Robertson, Richard; Warfield, Simon K; Ruiz-Alzola, Juan

    2007-06-01

    Malformations of the cerebral cortex are recognized as a common cause of developmental delay, neurological deficits, mental retardation and epilepsy. Currently, the diagnosis of cerebral cortical malformations is based on a subjective interpretation of neuroimaging characteristics of the cerebral gray matter and underlying white matter. There is no automated system for aiding the observer in making the diagnosis of a cortical malformation. In this paper a fuzzy rule-based system is proposed as a solution for this problem. The system collects the available expert knowledge about cortical malformations and assists the medical observer in arriving at a correct diagnosis. Moreover, the system allows the study of the influence of the various factors that take part in the decision. The evaluation of the system has been carried out by comparing the automated diagnostic algorithm with known case examples of various malformations due to abnormal cortical organization. An exhaustive evaluation of the system by comparison with published cases and a ROC analysis is presented in the paper. PMID:17197247

  6. A Fuzzy System for Helping Medical Diagnosis of Malformations of Cortical Development

    PubMed Central

    Alayón, Silvia; Robertson, Richard; Warfield, Simon K.; Ruiz-Alzola, Juan

    2007-01-01

    Malformations of the cerebral cortex are recognized as a common cause of developmental delay, neurological deficits, mental retardation and epilepsy. Currently, the diagnosis of cerebral cortical malformations is based on a subjective interpretation of neuroimaging characteristics of the cerebral gray matter and underlying white matter. There is no automated system for aiding the observer in making the diagnosis of a cortical malformation. In this paper a fuzzy rule-based system is proposed as a solution for this problem. The system collects the available expert knowledge about cortical malformations and assists the medical observer in arriving at a correct diagnosis. Moreover, the system allows the study of the influence of the various factors that take part in the decision. The evaluation of the system has been carried out by comparing the automated diagnostic algorithm with known case examples of various malformations due to abnormal cortical organization. An exhaustive evaluation of the system by comparison with published cases and a ROC analysis is presented in the paper. PMID:17197247

  7. The Great Divide: Understanding Cloacal Septation, Malformation, and Implications for Surgeons

    PubMed Central

    Gupta, Anita; Bischoff, Andrea; Peña, Alberto; Runck, Laura A.

    2015-01-01

    The anorectal and urogenital systems arise from a common embryonic structure termed cloaca. Subsequent development leads to the division/septation of the cloaca into the urethra, urinary bladder, vagina, anal canal, and rectum. Defective cloacal development and the resulting anorectal and urogenital malformations are some of the most severe congenital anomalies encountered in children. In the most severe form in females, the rectum, vagina, and urethra fail to develop separately and drain via a single common channel known as a cloaca into the perineum. In this review, we summarize our current knowledge of embryonic cloaca development and malformation, and compare them to what has already been described in literature. We describe the use of mouse models of cloaca malformation to understand which signaling pathways and cellular mechanisms are involved in the process of normal cloaca development. We also discuss the embryological correlation of the epithelial and stromal histology found in step sections of the common channel in fourteen human cloaca malformations. Finally, we highlight the significance of these findings, compare them to prior studies, and discuss their implications for the pediatric surgeons. Understanding and identifying the molecular basis for cloaca malformation could provide foundation for tissue engineering efforts that in the future would reflect better surgical reconstruction and improved quality of life for patients. PMID:25217828

  8. A developmental and genetic classification for malformations of cortical development: update 2012

    PubMed Central

    Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.

    2012-01-01

    Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics and imaging has resulted in an explosive increase in our knowledge of cerebral cortex development and in the number and types of malformations of cortical development that have been reported. These advances continue to modify our perception of these malformations. This review addresses recent changes in our perception of these disorders and proposes a modified classification based upon updates in our knowledge of cerebral cortical development. PMID:22427329

  9. The incidence of congenital malformations and variations in Göttingen minipigs.

    PubMed

    Ellemann-Laursen, S; Marsden, E; Peter, B; Downes, N; Coulby, D; Grossi, A B

    2016-09-01

    Knowledge of the incidence of spontaneous congenital abnormalities is critical for the accurate interpretation of findings in teratogenicity studies in any species. In this paper, results of the examination of 1739 neonatal Göttingen Minipigs are presented. Over the 2-year period under consideration, the incidence of external and visceral malformations was less than 0.2 and 0.1%, respectively. The most common external malformations were syndactyly, limb hyperflexion, domed head and scoliosis. The most common internal malformations were undescended testes, ventricular septal defect, diaphragmatic hernia and atrial septal defects. Pentadactyly and variation in the aortic arch's bifurcation (absent truncus bicaroticus) were the most common variations. These data will help support the use of the Göttingen Minipig as a non-rodent species in embryofetal development studies where concerns persist about the availability of background data. PMID:27184860

  10. Clinical results of stereotactic heavy-charged-particle radiosurgery for intracranial angiographically occult vascular malformations

    SciTech Connect

    Levy, R.P.; Fabrikant, J.I.; Phillips, M.H.; Frankel, K.A.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.; Lyman, J.T.

    1989-12-01

    Angiographically occult vascular malformations (AOVMs) of the brain have been recognized for many years to cause neurologic morbidity and mortality. They generally become symptomatic due to intracranial hemorrhage, focal mass effect, seizures or headaches. The true incidence of AOVMs is unknown, but autopsy studies suggest that they are more common than high-flow angiographically demonstrable arteriovenous malformations (AVMs). We have developed stereotactic heavy-charged-particle Bragg peak radiosurgery for the treatment of inoperable intracranial vascular malformations, using the helium ion beams at the Lawrence Berkeley Laboratory 184-inch Synchrocyclotron and Bevatron. This report describes the protocol for patient selection, radiosurgical treatment planning method, clinical and neuroradiologic results and complications encountered, and discusses the strengths and limitations of the method. 10 refs., 1 fig.

  11. An autosomal dominant syndrome of renal and anogenital malformations with syndactyly.

    PubMed

    Green, A J; Sandford, R N; Davison, B C

    1996-07-01

    We describe a family with autosomal dominant inheritance of anal anomalies, renal tract abnormalities, genital malformations, and syndactyly. These clinical manifestations do not clearly fall into any previously described syndrome. A mother and daughter had almost identical congenital malformations, short stature, and unusual facies. The proband was born with anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, and syndactyly of both feet. Her daughter had the same anal, clitoral, and foot anomalies, a solitary pelvic kidney, and no fistula. This family is likely to represent autosomal dominant inheritance of a new combination of malformations, which may overlap with the Townes-Brocks syndrome, but does not fall into a current diagnostic category. PMID:8818947

  12. Arteriovenous malformation (AVM) of the maxilla complicated by a local pathogen infection

    PubMed Central

    Ella, Bruno; Lanotte, Aurelie; Sedarat, Cyril; Fricain, Jean-Christophe

    2013-01-01

    Arteriovenous malformations (AVM) are usually observed on the skin, but they can also rarely affect the visceral organs and the maxillofacial area. In the maxillofacial area, these lesions can spread and they are potentially dangerous, as a biopsy or even a simple tooth extraction can lead to a catastrophic haemorrhage that may eventually cause death. There are several indications for the treatment, including age, size and type of vascular malformation. The purpose of this report is to describe an AVM on the maxilla, first diagnosed as an epulis, which has been treated for several years as a chronic local periodontitis. The lesion was finally stabilised after an antibiotic therapy. Improved knowledge of the development of these lesions and collaboration between dentists, radiologists and surgeons are necessary to improve the diagnosis and treatment of vascular malformations. PMID:23376660

  13. Venolymphatic vascular malformation of the parotid gland extending into the parapharyngeal space: A rare presentation

    PubMed Central

    Khatib, Yasmeen; Dande, Madhura; Patel, Richa D; Gite, Vinod

    2016-01-01

    Vascular malformations (VMs) are structural malformations of vascular development causing soft tissue abnormality with functional and esthetic impairment. They are named by their predominant vessel type as arterial, venous, lymphatic or mixed types. VMs of the parotid gland are extremely rare and constitute a distinct entity of parotid pathology that requires specific diagnostic tools and management. Till 2013, only fifty cases of VMs of the parotid have been described in the literature. We present a case of a venolymphatic malformation of the parotid gland extending into the parapharyngeal space in a 21-year-old male who presented with a swelling on the left side of the face extending into the neck. Diagnosis was suggested by ultrasonography and computed tomography scan and was confirmed by magnetic resonance imaging examination. Complete surgical excision of the lesion was done with a favorable outcome. Diagnosis was confirmed based on histopathology and immunohistochemical studies. PMID:27601828

  14. A novel syndrome with psychiatric features and review of malformation syndromes with psychiatric disorders.

    PubMed

    du Souich, Christèle; Austin, Jehannine C; Friedlander, Robin; Boerkoel, Cornelius F

    2009-02-15

    Psychiatric disease occurs with increased frequency in a number of malformation syndromes. We hypothesize that the study of these disorders is helpful for understanding the pathophysiology of psychiatric disease. With this objective, we have been screening for individuals with malformations and prominent psychiatric disease. We report on a man with visual and auditory hallucinations and behavioral problems who was the product of an incestuous relationship and had anomalies primarily of his face, hands and feet. His distinctive features define an undescribed acro-auricular malformation syndrome with a psychiatric component. The study of Mendelian syndromes such as the one presented will likely be helpful for isolating novel genes involved in psychiatric illness. PMID:19253384

  15. Thermographic Assessment of a Vascular Malformation of the Hand: A New Imaging Modality

    PubMed Central

    Hardwicke, Joseph T.; Titley, O. Garth

    2016-01-01

    Vascular malformations of the hand are rare. Angiography is the current Gold Standard imaging modality. Thermal imaging is an emerging noninvasive, noncontact technology that does not require intravenous contrast agents. We present the case of a patient with an arteriovenous malformation affecting the hand in which thermal imaging has been used as an adjunct to capture baseline images to allow monitoring of progression. We suggest that thermal imaging provides an adjunct that can be used in addition to clinical examination and/or angiography for the diagnosis and routine follow-up of conservatively managed arteriovenous malformations, to monitor progression or vascular steal, and also for recording recurrence after surgical excision for which there is known to be a significant incidence. With the benefit of being a noninvasive imaging modality that does not require intravenous contrast, or ionizing radiation exposure, office-based thermal imaging may become commonplace. PMID:27195175

  16. Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

    PubMed

    Parsley, Lea; Bellus, Gary; Handler, Michael; Tsai, Anne Chun-Hui

    2011-11-01

    Chiari malformations are multifactorial and heterogeneous entities, characterized by abnormalities in the posterior fossa. They have been identified in association with various genetic syndromes in recent years. Two previous studies have noted an association of Chiari malformations with Rubinstein-Taybi syndrome (RTS). In this clinical report, we highlight identical twins with RTS caused by a mutation in CREBBP that presented with slightly different Chiari malformations in association with an extensive multiloculated syrinx and scoliosis. RTS has been found to be associated with craniocervical abnormalities in literature review, and this clinical report demonstrates the prudent consideration of the physician who cares for patients impacted by RTS to effectively screen via symptomatology and physical examination for Chiari pathology or other craniocervical abnormalities. PMID:21932317

  17. Quantitative Analysis of Chiari-Like Malformation and Syringomyelia in the Griffon Bruxellois Dog

    PubMed Central

    Knowler, Susan P.; McFadyen, Angus K.; Freeman, Courtenay; Kent, Marc; Platt, Simon R.; Kibar, Zoha; Rusbridge, Clare

    2014-01-01

    This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes. PMID:24533070

  18. Anthropogenic noise causes body malformations and delays development in marine larvae

    PubMed Central

    de Soto, Natacha Aguilar; Delorme, Natali; Atkins, John; Howard, Sunkita; Williams, James; Johnson, Mark

    2013-01-01

    Understanding the impact of noise on marine fauna at the population level requires knowledge about the vulnerability of different life-stages. Here we provide the first evidence that noise exposure during larval development produces body malformations in marine invertebrates. Scallop larvae exposed to playbacks of seismic pulses showed significant developmental delays and 46% developed body abnormalities. Similar effects were observed in all independent samples exposed to noise while no malformations were found in the control groups (4881 larvae examined). Malformations appeared in the D-veliger larval phase, perhaps due to the cumulative exposure attained by this stage or to a greater vulnerability of D-veliger to sound-mediated physiological or mechanical stress. Such strong impacts suggest that abnormalities and growth delays may also result from lower sound levels or discrete exposures during the D-stage, increasing the potential for routinely-occurring anthropogenic noise sources to affect recruitment of wild scallop larvae in natural stocks. PMID:24088868

  19. Nasopharyngeal venous malformation: A rare condition managed with Nd:YAG laser.

    PubMed

    Lee, David R; Richter, Gresham T

    2015-10-01

    Venous malformations are benign but symptomatic vascular lesions of the head and neck that undergo soft tissue infiltration and relentless growth. Here we present a 31-year-old female referred for an obstructing and painful right posterior nasal mass. Flexible nasopharyngoscopy and magnetic resonance imaging demonstrated a 3 cm × 4 cm enhancing mucosal and submucosal venous malformation of the nasopharynx and oropharynx. Three staged episodes of transnasal endoscopically guided Nd:YAG laser therapy were performed with dramatic and sustained reduction in size and symptoms. No bleeding or complications occurred. Nd:YAG laser treatment of nasopharyngeal venous malformations is a safe and effective alternative to open surgical excision and sclerotherapy. PMID:25684672

  20. Surgical management of cavernous malformation of the optic nerve with canalicular extension

    PubMed Central

    Gonçalves, Vítor M.; Gonçalves, Victor

    2014-01-01

    Background: Cavernous malformations arising in a single optic nerves paring the chiasm (intracranial prechiasmatic optic nerve) and expanding into the optic canal are extremely rare lesions. Published series or case reports regarding the surgical removal of these vascular malformations within this specific location are scarce. Case Description: We present the first case to be published, of an intracranial optic nerve cavernous malformation with a contiguous canalicular component that was totally and successfully removed through a microsurgical pterional approach with excellent clinical outcome. Conclusion: This pathology should always be considered in the differential diagnosis of optic neuropathy and visual loss. Early detection and surgical proposal are mandatory, warranting the prevention of permanent damage to visual pathways. Radical resection is challenging, but usually curative and associated with favorable visual outcomes. PMID:25422788

  1. Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

    PubMed

    Welshimer, K; Swift, M

    1982-09-01

    Heterozygous carriers of an ataxia-telangiectasia (A-T), Fanconi anemia (FA), or xeroderma pigmentosum (XP) gene may be predisposed to some of the same congenital malformations or developmental disabilities that are common among homozygotes. To test this hypothesis, medical records, death certificates, and questionnaires from 27 A-T families, 25 FA families, and 31 XP families were reviewed. Eleven XP blood relatives (out of 1,100) were found with moderate or severe unexplained mental retardation, a significant excess compared to the FA and A-T families (3/1,439). There were four microcephalic XP blood relatives and none in the FA or A-T families. In the A-T families, idiopathic scoliosis and vertebral anomalies were in excess, while genitourinary and distal limb malformations were found in the FA families. A-T, FA, or XP heterozygotes may constitute an important proportion of individuals at risk for specific malformations or developmental abnormalities. PMID:7124732

  2. Congenital malformations and developmental disabilities in ataxia-telangiectasia, Fanconi anemia, and xeroderma pigmentosum families.

    PubMed Central

    Welshimer, K; Swift, M

    1982-01-01

    Heterozygous carriers of an ataxia-telangiectasia (A-T), Fanconi anemia (FA), or xeroderma pigmentosum (XP) gene may be predisposed to some of the same congenital malformations or developmental disabilities that are common among homozygotes. To test this hypothesis, medical records, death certificates, and questionnaires from 27 A-T families, 25 FA families, and 31 XP families were reviewed. Eleven XP blood relatives (out of 1,100) were found with moderate or severe unexplained mental retardation, a significant excess compared to the FA and A-T families (3/1,439). There were four microcephalic XP blood relatives and none in the FA or A-T families. In the A-T families, idiopathic scoliosis and vertebral anomalies were in excess, while genitourinary and distal limb malformations were found in the FA families. A-T, FA, or XP heterozygotes may constitute an important proportion of individuals at risk for specific malformations or developmental abnormalities. PMID:7124732

  3. Malformation of gynoecia impedes fertilisation in bud-flowering Calluna vulgaris.

    PubMed

    Behrend, A; Borchert, T; Müller, A; Tänzer, J; Hohe, A

    2013-01-01

    In Calluna vulgaris, a common bedding plant during autumn in the northern hemisphere, the bud-blooming mutation of flower morphology is of high economic importance. Breeding of new bud-blooming cultivars suffers from poor seed set in some of the desirable bud-flowering crossing partners. In the current study, fertilisation and seed development in genotypes with good or poor seed set were monitored in detail in order to examine pre- and post-zygotic cross breeding incompatibilities. Whereas no distinct differences were detected in seed development, pollen tube growth was impeded in the pistils of genotypes characterised by poor seed set. Detailed microscopic analysis revealed malformations of the gynoecia due to imperfect fusion of carpels. Hence, a pre-zygotic mechanism hindering pollen tube growth due to malformation of gynoecia was deduced. An interaction of putative candidate genes involved in malformation of gynoecia with floral organ identity genes controlling the flower architecture is discussed. PMID:22672338

  4. Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

    SciTech Connect

    Levy, R.P.; Fabrikant, J.I.; Frankel, K.A.; Phillips, M.H.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.

    1989-12-01

    Stereotactic heavy-charged-particle Bragg peak radiosurgery has been used to treat 322 patients with surgically-inaccessible intracranial vascular malformations. (The clinical results of this method for the treatment of angiographically demonstrable arteriovenous malformations (AVMs) and angiographically occult vascular malformations (AOVMs) of the brain are described in separate reports of this symposium). The great majority of patients have had an uneventful post-treatment course with satisfactory health outcomes. However, several categories of delayed sequelae of stereotactic radiosurgery have been identified, involving the vascular structures essential for the integrity of the brain tissue and the brain parenchyma directly. These categories reflect both reaction to injury and to alterations in regional hemodynamic status, and include vasogenic edema, occlusion of functional vasculature, radiation necrosis, and local or remote effects on cerebral arterial aneurysms. 10 refs., 7 figs., 1 tab.

  5. Some mice feature 5th pharyngeal arch arteries and double-lumen aortic arch malformations.

    PubMed

    Geyer, Stefan H; Weninger, Wolfgang J

    2012-01-01

    A 5th pair of pharyngeal arch arteries (PAAs) has never been identified with certainty in mice. Murines in general are considered to not develop a 5th pair. If true, the significance of the mouse as a model for researching the genesis of malformations of the great intrathoracic arteries is limited. We aimed to investigate whether mouse embryos develop a 5th pair of PAAs and to identify malformations known to be caused by defective remodelling of the 5th PAAs. We employed the high-resolution episcopic microscopy method for creating digital volume data and three-dimensional (3D) computer models of the great intrathoracic arteries of 30 mouse embryos from days 12-12.5 post conception and 180 mouse fetuses from days 14.5 and 15.5 post conception. The 3D models of the fetuses were screened for the presence of a double-lumen aortic arch malformation. We identified such a malformation in 1 fetus. The 3D models of the embryos were analysed for the presence of 5th PAAs. Six of the 30 embryos (20%) showed a 5th PAA bilaterally, and an additional 9 (30%) showed a 5th PAA unilaterally. Our results prove that some mice do develop a 5th pair of PAAs. They also show that malformations which occur rarely in humans and result from defective remodelling of the left 5th PAA can be identified in mice as well. Thus, the mouse does represent an excellent model for researching the mechanisms driving PAA remodelling and the genesis of malformations of the great intrathoracic arteries. PMID:22287557

  6. A framework for the automatic detection and characterization of brain malformations: Validation on the corpus callosum.

    PubMed

    Peruzzo, Denis; Arrigoni, Filippo; Triulzi, Fabio; Righini, Andrea; Parazzini, Cecilia; Castellani, Umberto

    2016-08-01

    In this paper, we extend the one-class Support Vector Machine (SVM) and the regularized discriminative direction analysis to the Multiple Kernel (MK) framework, providing an effective analysis pipeline for the detection and characterization of brain malformations, in particular those affecting the corpus callosum. The detection of the brain malformations is currently performed by visual inspection of MRI images, making the diagnostic process sensible to the operator experience and subjectiveness. The method we propose addresses these problems by automatically reproducing the neuroradiologist's approach. One-class SVMs are appropriate to cope with heterogeneous brain abnormalities that are considered outliers. The MK framework allows to efficiently combine the different geometric features that can be used to describe brain structures. Moreover, the regularized discriminative direction analysis is exploited to highlight the specific malformative patterns for each patient. We performed two different experiments. Firstly, we tested the proposed method to detect the malformations of the corpus callosum on a 104 subject dataset. Results showed that the proposed pipeline can classify the subjects with an accuracy larger than 90% and that the discriminative direction analysis can highlight a wide range of malformative patterns (e.g., local, diffuse, and complex abnormalities). Secondly, we compared the diagnosis of four neuroradiologists on a dataset of 128 subjects. The diagnosis was performed both in blind condition and using the classifier and the discriminative direction outputs. Results showed that the use of the proposed pipeline as an assisted diagnosis tool improves the inter-subject variability of the diagnosis. Finally, a graphical representation of the discriminative direction analysis was proposed to enhance the interpretability of the results and provide the neuroradiologist with a tool to fully and clearly characterize the patient malformations at single

  7. Molecular mechanism of Hoxd13-mediated congenital malformations in rat embryos

    PubMed Central

    Wang, Fenglan; Du, Mingzhen; Wang, Ruiling; Zhou, Juekun; Zhang, Wei; Li, Huixue

    2015-01-01

    Objective: To investigate the molecular mechanism of Hoxd13-mediated congenital malformations in rat embryos. Methods: SD female rats were mated with male rats in a 1:1 mating scheme. Thirty pregnant female rats were randomly divided into three groups: the control group receiving a normal diet, the model group receiving a vitamin A-deficient diet, and the treatment group receiving a vitamin A-deficient diet supplemented with pcDNA-Hoxd13. The expression of Hoxd13 mRNA and protein in normal embryonic tissue and congenital malformations was determined by RT-PCR and Western blot analysis. At day 20, rats were dissected, and the fetal weight, body and tail length, and the number of live births, absorbed fetus, and stillbirth in each group were recorded. Wnt and Slim1 expression was detected by RT-PCR and Western blot analysis. β-catenin and c-myc expression was also quantified by Western blot analysis. Results: The expression of Hoxd13 mRNA and protein in congenital malformations was significantly lower compared with normal embryonic tissue (P<0.01). The administration of exogenous Hoxd13 in the treatment group markedly increased the fetal weight, body and tail length (P<0.05), improved the embryonic survival rate, and reduced the embryonic resorption rate and stillbirth rate (P<0.05). Exogenous Hoxd13 markedly promoted the expression of Wnt2, Wnt5a, Wnt7b and Slim1 protein and mRNA (P<0.01), and the expression of β-catenin and c-myc protein in congenital malformations (P<0.01). Conclusion: Hoxd13 expression was decreased in rat embryos with congenital malformations. The administration of exogenous Hoxd13 alleviated fetal malformation probably through stimulation of Slim1 expression and Wnt/β-catenin signaling pathway. PMID:26884828

  8. Temporal Space Lymphatic Malformation in a 15-Year-Old Adolescent: An Extraordinary Case.

    PubMed

    Igoumenakis, Dimosthenis; Logothetis, Ioannis; Barmpagadaki, Alina; Ieromonachou, Panayotis; Mastorakis, George

    2016-07-01

    Lymphatic malformations-previously called lymphangiomas or cystic hygromas-are regarded as non-malignant primary disorders of the lymphatic system. They appear predominantly in infants and children, with 90 % of cases being diagnosed by the age of 2 years. Also, they constitute an infrequent entity, accounting for 5 % of all benign tumors in infants and children. In adults they are extremely rare. In the present article we present an extraordinary case of a lymphatic malformation that ensued in the temporal area of a 15-year old adolescent. PMID:27408452

  9. Fallout from the Chernobyl nuclear disaster and congenital malformations in Europe.

    PubMed

    Hoffmann, W

    2001-01-01

    Investigators estimate that the population exposure that resulted from the Chernobyl fallout is in the range of natural background radiation for most European countries. Given current radiobiologic knowledge, health effects-if any-would not be measurable with epidemiologic tools. In several independent reports, however, researchers have described isolated peaks in the prevalence of congenital malformations in the cohort conceived immediately after onset of the fallout. The consistency of the time pattern and the specific types of malformation raise concern about their significance. In this study, the author summarizes findings from Turkey, Belarus, Croatia, Finland, Germany, and other countries, and implications for radiation protection and public health issues are discussed. PMID:11958546

  10. Von Meyenburg complex and complete ductal plate malformation along with Klatskin tumour: a rare association.

    PubMed

    Gupta, Ashish; Pattnaik, Bramhadatta; Das, Ashim; Kaman, Lileswar

    2016-01-01

    Von Meyenburg complexes (VMCs), or bile duct microhamartomas, are among the constellation of defects of ductal plate malformation. These present as multiple small intrahepatic cysts and are diagnosed incidentally. Association of intrahepatic VMCs with a bile duct cancer has rarely been reported. We describe a case of a 53-year-old man presenting with obstructive jaundice. Biochemistry and radiology gave a provisional diagnosis of a resectable Klatskin tumour. The patient underwent right hepatectomy with common bile duct and caudate lobe excision. The histopathological examination demonstrated intrahepatic VMCs with complete ductal malformation and malignancy at the hilum. PMID:27090552

  11. Genome-wide array data and next generation sequencing unravel the etiology of urogenital malformations

    PubMed Central

    Ludwig, Michael; Reutter, Heiko

    2012-01-01

    Development of the genitourinary tract requires spatiotemporal expression of a myriad of genes involved in various cascades and signaling events. To date, researchers have put great efforts into defining the etiology of these malformations. However, many aspects remain unsolved. This paper reviews the most recent progress in identifying causally related genes and novel loci assumed to harbor genes involved in the formation of urogenital malformations. These investigations have been considerately accelerated by the implementation of molecular karyotyping using array techniques and next generation sequencing strategies.

  12. Craniocervical junction malformation in a child with Oromandibular-limb hypogenesis-Möbius syndrome

    PubMed Central

    Kaissi, Ali Al; Grill, Franz; Safi, Hatem; Ghachem, Maher Ben; Chehida, Farid Ben; Klaushofer, Klaus

    2007-01-01

    We report a male child with Oromandibular-limb hypogenesis (OMLH), the main features being bilateral sixth and seventh nerve palsies, limb anomalies and hypoplasia of the tongue. Additional features were shortness of the neck associated with torticollis. Radiographs of the cervical spine were non-contributory, but 3D computed tomography (CT) scanning of this area identified: a) congenital hypoplasia of the atlas; b) the simultaneous development of occiput-atlas malformation/developmental defect. To our knowledge, this is the first clinical report assessing the cervico-cranium malformation in a child with OMLH-Möbius syndrome. PMID:17210070

  13. Occlusion of an Intraosseous Arteriovenous Malformation With Percutaneous Injection of Polymethylmethacrylate

    SciTech Connect

    Ierardi, Anna Maria; Mangini, Monica; Vaghi, Massimo; Cazzulani, Alberto; Mattassi, Raul; Carrafiello, Gianpaolo

    2011-02-15

    Primary intraosseous arteriovenous malformations are rare. Many minimally invasive procedures can be considered preoperative steps and/or definitive treatment. The case reported regards a young woman with a voluminous arteriovenous extratroncular infiltrating malformation of the humerus. She underwent several treatments, but none of them was completely occlusive. The last treatment consisted of direct percutaneous puncture of the intraosseous alteration and injection of polymethylmethacrylate (PMMA), which is normally used in percutaneous vertebroplasty. We obtained complete occlusion of the humerus lytic lesion. To the best of our knowledge, this represents the first case of intraosseous AVM treated by percutaneous injection of PMMA.

  14. Multifocal capillary malformations in an older, asymptomatic child with a novel RASA1 mutation.

    PubMed

    Whitaker, S; Leech, S; Taylor, A; Splitt, M; Natarajan, S; Rajan, N

    2016-03-01

    Multifocal capillary malformation (CM) is the cardinal feature of patients with RASA1 mutations. These CMs are 'red flags', signalling the possible association with an arteriovenous malformation (AVM) or an arteriovenous fistula (AVF). We report an 8-year-old boy who presented with > 20 CMs, who was found to have a novel mutation in the RASA1 gene. Radiological screening of children with RASA1 mutations is not standardized, and we elected to carry out baseline magnetic resonance imaging of the brain and spine in our case, which gave normal results. We discuss the recent literature and our approach in the management of such a case. PMID:26132338

  15. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report.

    PubMed

    Moscote-Salazar, Luis Rafael; Zabaleta-Churio, Nasly; Alcala-Cerra, Gabriel; M Rubiano, Andres; Calderon-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Agrawal, Amit

    2016-01-01

    Chiari malformation Type I (CM-I) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomyelia associated with a CM-I exacerbated within 2 years of a TBI, and to discuss issues related to that condition. PMID:27162930

  16. [Syndactylia associated with multiple malformation syndromes. Observation of a new symptomatologic complex in 3 brothers].

    PubMed

    Garau, A; Nurchi, A M; Melis, P; Frau, G; Costa, G

    1988-01-01

    Hand and feet malformations are often part of complex malformation associations. The present paper reports on a family whose three sibs (two males and one female) are affected with symmetric soft tissue syndactyly involving both fingers and toes, fifth finger clinodactyly, a pattern of dysmorphism including down slanting palpebral fissures, long flat nasal saddle, out turned nostril openings ("Greek warrior helmet"-like profile), dysplastic teeth, and, in addition, severe growth retardation, microcephaly, severe mental deficiency with immaturity of cerebral activity of EEG, hypergonadotropic hypogonadism and some skeletal anomalies. All cases show large secondary constriction in one of the chromosome 1 pair (1qh+). PMID:2845373

  17. Venous vascular malformation of the floor of mouth masquerading as a dermoid tumor.

    PubMed

    Dmytriw, Adam A; Song, Jin Soo A; Gullane, Patrick; terBrugge, Karel G; Yu, Eugene

    2016-01-01

    Venous vascular malformations (VVMs) are described as abnormal post-capillary lesions which exhibit low flow. These are typically malleable and may grow with endocrine fluctuations. A VVM that mimics the classic appearance of dermoid tumor on imaging has never been reported. We encountered a 43-year-old woman with intermittent dysphagia relating to a firm submandibular mass. Physical exam and cross-sectional imaging revealed features consistent with variant dermoid cyst. However, catheter angiography eventually demonstrated a VVM which possessed vessels of variable size and partial thrombosis. We report the case and propose that catheter angiography remains important in cases where vascular malformation is considered. PMID:26851131

  18. The Typical Presentation Spectrum of Deep Vein Thrombosis Associated with Inferior Vena Cava Malformations

    PubMed Central

    El Lakis, Mustapha A.; Chamieh, Jad

    2016-01-01

    Congenital malformations of the inferior vena cava (IVC) are rare and underreported. They can be a risk factor for deep venous thrombosis (DVT) as a result of inadequate venous drainage of the lower extremities through collateral circulation. The significant number of cases reported in the literature highlights their importance, warranting investigating their existence in younger individuals with idiopathic DVT of the lower extremities and pelvic veins. In this systematic review, we depict the typical presentation of IVC malformations, their management, and the management of their associated DVT. PMID:27478635

  19. Use of the TriSpan Coil to Facilitate the Transcatheter Occlusion of Pulmonary Arteriovenous Malformation

    SciTech Connect

    Cil, Barbaros E. E-mail: barbaros@hacettepe.edu.tr; Erdogan, Cueneyt; Akmangit, Ilkay; Cekirge, Saruhan; Balkanci, Ferhun

    2004-11-15

    Pulmonary arteriovenous malformation (PAVM) is a rare vascular malformation of the lung which may occur as an isolated entity or in association with hereditary hemorrhagic telangiectasia (HHT). Because of considerable risk of serious complications such as cerebral embolism, brain abscess and pulmonary hemorrhage, definitive treatment should be considered in most patients. Embolization with coils or detachable balloons is currently the preferred treatment. Paradoxical embolization of coils and balloons may happen, especially in patients with PAVMs with large feeding arteries. In this report we present our initial experience with the use of the TriSpan coil to lower the risk of coil migration during the transcatheter occlusion of PAVMs.

  20. Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.

    PubMed

    Broome, M; Vial, Y; Jacquemont, S; Sergi, C; Kamnasaran, D; Giannoni, E

    2016-02-01

    Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia. PMID:23778189

  1. Foot Drop after Ethanol Embolization of Calf Vascular Malformation: A Lesson on Nerve Injury

    SciTech Connect

    Tay, Vincent Khwee-Soon; Mohan, P. Chandra; Liew, Wendy Kein Meng; Mahadev, Arjandas; Tay, Kiang Hiong

    2013-08-01

    Ethanol is often used in sclerotherapy to treat vascular malformations. Nerve injury is a known complication of this procedure. However, the management of this complication is not well described in literature. This case describes a 10-year-old boy with a slow flow vascular malformation in the right calf who underwent transarterial ethanol embolization following prior unsuccessful direct percutaneous sclerotherapy. The development of a dense foot drop that subsequently recovered is described, and the management of this uncommon but distressful complication is discussed.

  2. Arteriovenous malformation of the mandible presented as massive upper gastrointestinal bleeding: report of one case.

    PubMed

    Su, Kuan-Wen; Peng, Yen-Shih; Wu, Yu-Nian; Tsai, Ya-Huei; Lee, Hung-Chang

    2006-01-01

    Arteriovenous malformation is an uncommon cause of upper gastrointestinal bleeding in children. It should be taken into consideration when a child has upper gastrointestinal bleeding because without proper management, it might be fatal. We report a 10-year-old boy whose initial presentation was massive hematemesis and impending shock. After angiography, arteriovenous malformation (AVM) of the mandible was found and treated with embolization. This 10-year-old boy also had chicken pox during admission. Case reports regarding AVM of dental arches in literature are reviewed and the proposed managements are summarized. Embolization combined with surgical excision might be the optimal way to manage AVM of dental arches. PMID:17180789

  3. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report

    PubMed Central

    Moscote-Salazar, Luis Rafael; Zabaleta-Churio, Nasly; Alcala-Cerra, Gabriel; M. Rubiano, Andres; Calderon-Miranda, Willem Guillermo; Alvis-Miranda, Hernando Raphael; Agrawal, Amit

    2016-01-01

    Chiari malformation Type I (CM-I) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomyelia associated with a CM-I exacerbated within 2 years of a TBI, and to discuss issues related to that condition. PMID:27162930

  4. A case of spinal epidural venous malformation with mediastinal extension: management with combined surgery and percutaneous sclerotherapy.

    PubMed

    Gandhoke, Gurpreet S; Yilmaz, Sabri; Grunwaldt, Lorelei; Hamilton, Ronald L; Salvetti, David J; Greene, Stephanie

    2016-05-01

    While spinal epidural arteriovenous malformations, fistulas, and shunts are well reported, the presence of a venous malformation in the spinal epidural space is a rare phenomenon. Herein, the authors report the clinical presentation, imaging findings, pathological features, and the outcome of surgical and percutaneous interventional management of a mediastinal and spinal epidural venous malformation in a young woman who presented clinically with neurogenic claudication from presumed venous hypertension precipitating the formation of a syrinx. The patient underwent a C6-T5 osteoplastic laminectomy for decompression of the spinal canal and subtotal resection of the epidural venous malformation, followed by percutaneous sclerotherapy of the mediastinal and residual anterior spinal venous malformation. She developed transient loss of dorsal column sensation, which returned to baseline within 3 weeks of the surgery. A 6-month postoperative MRI study revealed complete resolution of the syrinx and the mediastinal venous malformation. Twelve months after the surgery, the patient has had resolution of all neurological symptoms with the exception of her premorbid migraine headaches. A multidisciplinary approach with partial resection and the use of percutaneous sclerotherapy for the residual malformation can be used to successfully treat a complex venous malformation. PMID:26771680

  5. INVESTIGATIONS INTO THE CAUSES OF AMPHIBIAN MALFORMATIONS IN THE LAKE CHAMPLAIN BASIN OF NEW ENGLAND (AWARDED PROJECT)

    EPA Science Inventory

    The concurrent geographic extent and rate of amphibian malformations appear to have markedly increased above background levels in recent years in many states and Canadian provinces as documented by the North American Reporting Center for Amphibian Malformations (www.npwrc.usgs.go...

  6. A new gestational diabetes mellitus model: hyperglycemia-induced eye malformation via inhibition of Pax6 in the chick embryo

    PubMed Central

    Zhang, Shi-Jie; Li, Yi-Fang; Tan, Rui-Rong; Tsoi, Bun; Huang, Wen-Shan; Huang, Yi-Hua; Tang, Xiao-Long; Hu, Dan; Yao, Nan; Yang, Xuesong; Kurihara, Hiroshi; Wang, Qi; He, Rong-Rong

    2016-01-01

    ABSTRACT Gestational diabetes mellitus (GDM) is one of the leading causes of fetal malformations. However, few models have been developed to study the underlying mechanisms of GDM-induced fetal eye malformation. In this study, a high concentration of glucose (0.2 mmol per egg) was injected into the air sac of chick embryos on embryo development day (EDD) 1 to develop a hyperglycemia model. Results showed that 47.3% of embryonic eye malformation happened on EDD 5. In this model, the key genes regulating eye development, Pax6, Six3 and Otx2, were downregulated by hyperglycemia. Among these genes, the expression of Pax6 was the most vulnerable to hyperglycemia, being suppressed by 70%. A reduction in Pax6 gene expression induced eye malformation in chick embryos. However, increased expression of Pax6 in chick embryos could rescue hyperglycemia-induced eye malformation. Hyperglycemia stimulated O-linked N-acetylglucosaminylation, which caused oxidative stress in chick embryos. Pax6 was found to be vulnerable to free radicals, but the antioxidant edaravone could restore Pax6 expression and reverse eye malformation. These results illustrated a successful establishment of a new chick embryo model to study the molecular mechanism of hyperglycemia-induced eye malformation. The suppression of the Pax6 gene is probably mediated by oxidative stress and could be a crucial target for the therapy of GDM-induced embryonic eye malformation. PMID:26744353

  7. [Elective cerebral arteriovenous malformation treatment with onyx after coil embolization of ruptured, flow-realeted aneurysm of the posterior circulation].

    PubMed

    Poncyljusz, Wojciech; Falkowski, Aleksander; Rać, Monika; Sagan, Leszek; Kojder, Ireneusz

    2012-01-01

    Intracranial arteriovenous posterior circulation malformation was planned to embolize by onyx injection after acute coil embolization of ruptured flow-realeted aneurysm of posterior cerebral artery. Control angiography revealed completely embolized malformation with normal vessel patency at the end of procedure. There were no adverse events related to this procedure and no neurologic deficit at the discharge. PMID:23276020

  8. Co-occurrence of a cerebral cavernous malformation and an orbital cavernous hemangioma in a patient with seizures and visual symptoms: Rare crossroads for vascular malformations

    PubMed Central

    Choudhri, Omar; Feroze, Abdullah H.; Lad, Eleonora M.; Kim, Jonathan W.; Plowey, Edward D.; Karamchandani, Jason R.; Chang, Steven D.

    2014-01-01

    Background: Cerebral cavernous malformations (CCMs) are angiographically occult vascular malformations of the central nervous system. As a result of hemorrhage and mass effect, patients may present with focal neurologic deficits, seizures, and other symptoms necessitating treatment. Once symptomatic, most often from hemorrhage, CCMs are treated with microsurgical resection. Orbital cavernous hemangiomas (OCHs) are similar but distinct vascular malformations that present within the orbital cavity. Even though CCMs and OCHs are both marked by dilated endothelial-lined vascular channels, they are infrequently seen in the same patient. Case Description: We provide a brief overview of the two related pathologies in the context of a patient presenting to our care with concomitant lesions, which were both resected in full without complication. Conclusion: This is the first known report that describes a case of concomitant CCM and OCH and explores the origins of two pathologies that are rarely encountered together in neurosurgical practice. Recognition of disparate symptomatologies is important for properly managing these patients. PMID:25071938

  9. Malformed mdx myofibers have normal cytoskeletal architecture yet altered EC coupling and stress-induced Ca2+ signaling

    PubMed Central

    Ward, Christopher W.

    2009-01-01

    Skeletal muscle function is dependent on its highly regular structure. In studies of dystrophic (dy/dy) mice, the proportion of malformed myofibers decreases after prolonged whole muscle stimulation, suggesting that the malformed myofibers are more prone to injury. The aim of this study was to assess morphology and to measure excitation-contraction (EC) coupling (Ca2+ transients) and susceptibility to osmotic stress (Ca2+ sparks) of enzymatically isolated muscle fibers of the extensor digitorum longus (EDL) and flexor digitorum brevis (FDB) muscles from young (2–3 mo) and old (8–9 mo) mdx and age-matched control mice (C57BL10). In young mdx EDL, 6% of the myofibers had visible malformations (i.e., interfiber splitting, branched ends, midfiber appendages). In contrast, 65% of myofibers in old mdx EDL contained visible malformations. In the mdx FDB, malformation occurred in only 5% of young myofibers and 11% of old myofibers. Age-matched control mice did not display the altered morphology of mdx muscles. The membrane-associated and cytoplasmic cytoskeletal structures appeared normal in the malformed mdx myofibers. In mdx FDBs with significantly branched ends, an assessment of global, electrically evoked Ca2+ signals (indo-1PE-AM) revealed an EC coupling deficit in myofibers with significant branching. Interestingly, peak amplitude of electrically evoked Ca2+ release in the branch of the bifurcated mdx myofiber was significantly decreased compared with the trunk of the same myofiber. No alteration in the basal myoplasmic Ca2+ concentration (i.e., indo ratio) was seen in malformed vs. normal mdx myofibers. Finally, osmotic stress induced the occurrence of Ca2+ sparks to a greater extent in the malformed portions of myofibers, which is consistent with deficits in EC coupling control. In summary, our data show that aging mdx myofibers develop morphological malformations. These malformations are not associated with gross disruptions in cytoskeletal or t

  10. Gamma Knife surgical treatment for partially embolized cerebral arteriovenous malformations.

    PubMed

    Huo, Xiaochuan; Jiang, Yuhua; Lv, Xianli; Yang, Hongchao; Zhao, Yang; Li, Youxiang

    2016-03-01

    OBJECT A combination of embolization and radiosurgery is used as a common strategy for the treatment of large and complex cerebral arteriovenous malformations (AVMs). This study presents the experiences of partially embolized cerebral AVMs followed by Gamma Knife surgery (GKS) and assesses predictive factors for AVM obliteration and hemorrhage. METHODS The interventional neuroradiology database that was reviewed included 404 patients who underwent AVM embolization. Using this database, the authors retrospectively analyzed all partially embolized AVM cases followed by GKS for a residual nidus. Except for cases of complete AVM obliteration, the authors excluded all patients with radiological follow-up of less than 2 years. Logistic regression analysis was used to analyze the predictive factors related to AVM obliteration and hemorrhage following GKS. Kaplan-Meier analysis was used to evaluate the obliteration with a cutoff AVM nidus volume of 3 cm(3) and 10 cm(3). RESULTS One hundred sixty-two patients qualified for the study. The median patient age was 26 years and 48.8% were female. Hemorrhage presented as the most common symptom (48.1%). The median preembolization volume of an AVM was 14.3 cm(3). The median volume and margin dose for GKS were 10.92 cm(3) and 16.0 Gy, respectively. The median radiological and clinical follow-up intervals were 47 and 79 months, respectively. The annual hemorrhage rate was 1.71% and total obliteration rate was 56.8%. Noneloquent area (p = 0.004), superficial location (p < 0.001), decreased volume (p < 0.001), lower Spetzler-Martin grade (p < 0.001), lower Virginia Radiosurgery AVM Scale (RAS; p < 0.001), lower Pollock-Flickinger score (p < 0.001), lower modified Pollock-Flickinger score (p < 0.001), increased maximum dose (p < 0.001), and increased margin dose (p < 0.001) were found to be statistically significant in predicting the probability of AVM obliteration in the univariate analysis. In the multivariate analysis, only volume

  11. Chiari Type I Malformations in Young Adults: Implications for the College Health Practitioner

    ERIC Educational Resources Information Center

    Elam, Mary Jane; Vaughn, John A.

    2011-01-01

    In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an…

  12. A large cavernous malformation of the third ventricle floor: A case report.

    PubMed

    Nagashima, Hiroaki; Tanaka, Kazuhiro; Sasayama, Takashi; Okamura, Yusuke; Taniguchi, Masaaki; Otani, Kyoko; Yamasaki, Takashi; Itoh, Tomoo; Kohmura, Eiji

    2015-01-01

    Suprasellar and third ventricular region cavernous malformations originating from the floor of the third ventricle are extremely rare. We report a case of third ventricular cavernous malformation arising from the ventricle floor in a 24-year-old woman who presented with short-term memory loss and disorientation. Computed tomography revealed a suprasellar mass with calcification in the posterior chiasmatic region. T2-weighted magnetic resonance imaging revealed a mass with heterogeneous intensity and without hydrocephalus. The mass was slightly enhanced subsequent to gadolinium infusion. Using a basal interhemispheric translamina terminalis approach and a neuroendoscope, we confirmed that the tumor was located at the floor of the third ventricle and removed it. Histopathological examination confirmed the diagnosis of cavernous malformation. The postoperative course was uneventful, but the patient's short-term memory loss persisted. Despite its rarity, cavernous malformation should be suspected when a tumor is detected in the vicinity of the third ventricle floor. It is treatable through surgical resection. PMID:26652881

  13. MODE OF ACTION: INHIBITION OF ANDROGEN RECEPTOR FUNCTION--VINCLOZOLIN-INDUCED MALFORMATIONS IN REPRODUCTIVE DEVELOPMENT

    EPA Science Inventory

    Vinclozolin is a fungicide that has been shown to cause Leydig cell tumors and atrophy of the accessory sex glands in adult rodents. In addition, exposure of rats during pregnancy causes a pattern of malformations in the male urogenital tract. A wealth of standard toxicological s...

  14. Maternal Lyme disease and congenital malformations: a cord blood serosurvey in endemic and control areas.

    PubMed

    Williams, C L; Strobino, B; Weinstein, A; Spierling, P; Medici, F

    1995-07-01

    This report describes a cohort study of over 5000 infants and their mothers who participated in a cord blood serosurvey designed to examine the relationship between maternal exposure to Lyme disease and adverse pregnancy outcome. Based on serology and reported clinical history, mothers of infants in an endemic hospital cohort are 5 to 20 times more likely to have been exposed to B. burgdorferi as compared with mothers of infants in a control hospital cohort. The incidence of total congenital malformations was not significantly different in the endemic cohort compared with the control cohort, but the rate of cardiac malformations was significantly higher in the endemic cohort [odds ratio (OR) 2.40; 95% confidence interval (CI) 1.25, 4.59] and the frequencies of certain minor malformations (haemangiomas, polydactyly, and hydrocele), were significantly increased in the control group. Demographic variations could only account for differences in the frequency of polydactyly. Within the endemic cohort, there were no differences in the rate of major or minor malformations or mean birthweight by category of possible maternal exposure to Lyme disease or cord blood serology. The disparity between observations at the population and individual levels requires further investigation. The absence of association at the individual level in the endemic area could be because of the small number of women who were actually exposed either in terms of serology or clinical history. The reason for the findings at the population level is not known but could be because of artifact or population differences. PMID:7479280

  15. Split-hand/feet malformation in three tamilian families and review of the reports from India.

    PubMed

    Amalnath, S Deepak; Gopalakrishnan, Maya; Dutta, Tarun Kumar

    2014-01-01

    Split-hand/foot malformation (SHFM) is a rare condition which can be either syndromic or nonsyndromic. We report three unrelated pedigrees, one with autosomal dominant (AD) inheritance and the other two with autosomal recessive (AR) pattern. We also briefly review the published reports from India. PMID:24959024

  16. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.

    PubMed

    Bourchany, A; Giurgea, I; Thevenon, J; Goldenberg, A; Morin, G; Bremond-Gignac, D; Paillot, C; Lafontaine, P O; Thouvenin, D; Massy, J; Duncombe, A; Thauvin-Robinet, C; Masurel-Paulet, A; Chehadeh, S El; Huet, F; Bron, A; Creuzot-Garcher, C; Lyonnet, S; Faivre, L

    2015-07-01

    Mowat-Wilson syndrome (MWS) is a rare genetic syndrome characterized by a specific facial gestalt, intellectual deficiency, Hirschsprung disease and multiple congenital anomalies. Heterozygous mutations or deletions in the zinc finger E-box-binding homeobox2 gene (ZEB2) cause MWS. ZEB2 encodes for Smad-interacting protein 1, a transcriptional co-repressor involved in TGF-beta and BMP pathways and is strongly expressed in early stages of development in mice. Eye abnormalities have rarely been described in patients with this syndrome. Herein, we describe four patients (two males and two females; mean age 7 years) with MWS and eye malformations. Ocular anomalies included, iris/retinal colobomas, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes with severe visual consequences. All eye malformations were asymmetric and often unilateral and all eye segments were affected, similarly to the nine MWS cases with ophthalmological malformations previously reported (iris/chorioretinal/optic disc coloboma, optic nerve atrophy, retinal epithelium atrophy, cataract, and korectopia). In human embryo, ZEB2 is expressed in lens and neural retina. Using the present report and data from the literature, we set out to determine whether or not the presence of eye manifestations could be due to specific type or location of mutations. We concluded that the presence of eye malformations, although a rare feature in MWS, should be considered as a part of the clinical spectrum of the condition. PMID:25899569

  17. Identification and characterization of Fusarium mexicanum causing mango malformation disease in México

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Herein we summarize the results of fusaria we discovered associated with mango malformation disease (MMD) in México (Otero-Colina et al., 2010). From 2002 to 2009, 142 strains were isolated from symptomatic mango inflorescences and vegetative tissues from various cultivars in eight geographically di...

  18. Recurrent subdural hygromas after foramen magnum decompression for Chiari Type I malformation.

    PubMed

    Pereira, Erlick A C; Steele, Louise F; Magdum, Shailendra A

    2014-06-01

    A paediatric case of foramen magnum decompression for Chiari Type I malformation complicated by recurrent subdural hygromas (SH) and raised intracranial pressure without ventriculomegaly is described. SH pathogenesis is discussed, with consideration given to arachnoid fenestration. We summarise possibilities for treatment and avoidance of this unusual consequence of foramen magnum decompression. PMID:23952134

  19. Autophagy is involved in high glucose-induced heart tube malformation

    PubMed Central

    Wang, Guang; Huang, Wen-qing; Cui, Shu-dan; Li, Shuai; Wang, Xiao-yu; Li, Yan; Chuai, Manli; Cao, Liu; Li, Jiang-chao; Lu, Da-xiang; Yang, Xuesong

    2015-01-01

    Both pre-gestational and gestational diabetes have an adverse impact on heart development, but little is known about the influence on the early stage of heart tube formation. Using early gastrulating chick embryos, we investigated the influence of high glucose on the process of heart tube formation, specifically during the primary heart field phase. We demonstrated that high-glucose exposure resulted in 3 types of heart tube malformation: 1) ventricular hypertrophy, 2) ventricular hypertrophy with dextrocardia and 3) ventricular hypertrophy and dextrocardia with the fusion anomaly of a bilateral primary heart tube. Next, we found that these malformation phenotypes of heart tubes might mainly originate from the migratory anomaly of gastrulating precardiac mesoderm cells rather than cell proliferation in the developmental process of bilateral primary heart field primordia. The treatment of rapamycin (RAPA), an autophagy inducer, led to a similar heart tube malformation phenotype as high glucose. Additionally, high-glucose exposure promoted the expression of the key autophagy protein LC3B in early chick tissue. Atg7 is strongly expressed in the fusion site of bilateral primary heart tubes. All of these data imply that autophagy could be involved in the process of high-glucose-induced malformation of the heart tube. PMID:25738919

  20. Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).

    PubMed Central

    Moerman, P; Goddeeris, P; Lauwerijns, J; Van der Hauwaert, L G

    1980-01-01

    Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found in all 10 cases. Four had, in association with a ventricular septal defect of the infundibular type, an interrupted aortic arch, which was left-sided in two and right-sided in two other cases. Four patients had truncus arteriosus type I, in two of them associated with a right-sided aortic arch. Two patients with tetralogy of Fallot had a right-sided aortic arch. Only two of the 10 had a normally developed left aortic arch. Aberrant subclavian arteries were found in five cases. From our observations and a survey of the previously published patients it appears that 90 per cent of the necropsy-proven cases of DiGeorge syndrome have cardiovascular malformations and that 95 per cent of these malformations can be classified as aortic arch anomalies, truncus ateriosus, or tetralogy of Fallot. Images PMID:7426208

  1. A Developmental and Genetic Classification for Malformations of Cortical Development: Update 2012

    ERIC Educational Resources Information Center

    Barkovich, A. James; Guerrini, Renzo; Kuzniecky, Ruben I.; Jackson, Graeme D.; Dobyns, William B.

    2012-01-01

    Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain development and its perturbations. The rapid recent evolution of molecular biology, genetics…

  2. Congenital malformations and maternal drinking water supply in rural South Australia: a case-control study

    SciTech Connect

    Dorsch, M.M.; Scragg, R.K.R.; McMichael, A.J.; Baghurst, P.A.; Dyer, K.F.

    1984-04-01

    A case-control study, carried out in the Mount Gambier region of South Australia, investigated the relationship between mothers' antenatal drinking water source and malformations in offspring. It was prompted by earlier descriptive findings of a statistically significant, and localized, increase in the perinatal mortality rate in Mount Gambier, due principally to congential malformations affecting the central nervous system and multiple organ systems. Available for statistical analysis were 218 case-control pairs, from the period 1951-1979, individually matched by hospital, maternal age (+/- 2 years), parity and date of birth (+/- 1 month). Compared with women who drank only rainwater during their pregnancy (relative risk (RR) = 1.0), women who consumed principally groundwater had a statistically significant increase in risk of bearing a malformed child (RR = 2.8). statistically significant risk increases occurred specifically for malformations of the central nervous system and musculoskeletal system. Reanalysis of the data by estimated water nitrate concentration demonstrated a nearly threefold increase in risk for women who drank water containing 5-15 ppm of nitrate, and fourfold increase in risk for those consuming >15 ppm of nitrate.

  3. Transcatheter Embolization of a Large Symptomatic Pelvic Arteriovenous Malformation with Glubran 2 Acrylic Glue

    SciTech Connect

    Gandini, R.; Angelopoulos, G. Konda, D.; Messina, M.; Chiocchi, M.; Perretta, T.; Simonetti, G.

    2008-09-15

    A young patient affected by a pelvic arteriovenous malformation (pAVM) with recurrent episodes of hematuria following exercise, underwent transcatheter embolization using Glubran 2 acrylic glue (GEM, Viareggio, Italy). All branches of the pAVM were successfully occluded. The patient showed prompt resolution of symptoms and persistent occlusion of the pAVM at the 6 month follow-up.

  4. A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations

    PubMed Central

    Garrido-Allepuz, Carlos; Haro, Endika; González-Lamuño, Domingo; Martínez-Frías, María Luisa; Bertocchini, Federica; Ros, Maria A.

    2011-01-01

    Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation. PMID:21504909

  5. Dampened hippocampal oscillations and enhanced spindle activity in an asymptomatic model of developmental cortical malformations

    PubMed Central

    Cid, Elena; Gomez-Dominguez, Daniel; Martin-Lopez, David; Gal, Beatriz; Laurent, François; Ibarz, Jose M.; Francis, Fiona; Menendez de la Prida, Liset

    2014-01-01

    Developmental cortical malformations comprise a large spectrum of histopathological brain abnormalities and syndromes. Their genetic, developmental and clinical complexity suggests they should be better understood in terms of the complementary action of independently timed perturbations (i.e., the multiple-hit hypothesis). However, understanding the underlying biological processes remains puzzling. Here we induced developmental cortical malformations in offspring, after intraventricular injection of methylazoxymethanol (MAM) in utero in mice. We combined extensive histological and electrophysiological studies to characterize the model. We found that MAM injections at E14 and E15 induced a range of cortical and hippocampal malformations resembling histological alterations of specific genetic mutations and transplacental mitotoxic agent injections. However, in contrast to most of these models, intraventricularly MAM-injected mice remained asymptomatic and showed no clear epilepsy-related phenotype as tested in long-term chronic recordings and with pharmacological manipulations. Instead, they exhibited a non-specific reduction of hippocampal-related brain oscillations (mostly in CA1); including theta, gamma and HFOs; and enhanced thalamocortical spindle activity during non-REM sleep. These data suggest that developmental cortical malformations do not necessarily correlate with epileptiform activity. We propose that the intraventricular in utero MAM approach exhibiting a range of rhythmopathies is a suitable model for multiple-hit studies of associated neurological disorders. PMID:24782720

  6. THE FUNGICIDE PROCHLORAZ: IN VITRO ANDROGEN ANTAGONISM, PARTURITION DELAYS, AND MALE REPRODUCTIVE MALFORMATIONS IN RATS

    EPA Science Inventory

    The Fungicide Prochloraz: In vitro Androgen Antagonism, Parturition Delays, and Male Reproductive Malformations in Rats.
    Nigel C. Noriega, Joseph Ostby, Christy Lambright, Vickie S. Wilson, and L. Earl Gray Jr.,
    noriega.nigel@epa.gov
    US EPA
    Prochloraz (PZ) is an imid...

  7. A FETAL RAT TESTIS ENDOCRINE AND GENOMIC "SIGNATURE"ACCURATELY PREDICTS THE PHTHALATE SYNDROME OF MALFORMATIONS.

    EPA Science Inventory

    ABSTRACT BODY: Phthalate esters (PE) vary greatly in their potency to induce malformations during sexual differentiation in the male rat. Since in vitro assay batteries are currently unable to generate useful information on the potential of chemicals within this class to disrupt ...

  8. First report of mango malformation disease caused by Fusarium pseudocircinatum in Mexico

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Mango (Mangifera indica L.) malformation disease (MMD) is one of the most important diseases affecting this crop worldwide, causing severe economic loss due to reduction of yield. Subsequent to the first report in India in 1891 (3), MMD has spread worldwide to most mango-growing regions. Several spe...

  9. Mimosa tenuiflora as a cause of malformations in ruminants in the northeastern Brazilian semiarid rangelands.

    PubMed

    Pimentel, L A; Correa, F Riet; Gardner, D; Panter, K E; Dantas, A F M; Medeiros, R M T; Mota, R A; Araújo, J A S

    2007-11-01

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to groups of 4 pregnant goats each. Fresh green M. tenuiflora was collected daily and fed ad libitum to 4 goats in group 1 throughout pregnancy. This treatment group also received a supplemental feed concentrate equivalent to 1% body weight. Four goats in group 2 received a ration with 70% of P. juliflora pods and 30% hay throughout pregnancy. Four control goats were fed supplemental feed concentrate (1% body weight) and hay ad libitum throughout pregnancy. Goats treated with P. juliflora pods and the control goats delivered 9 normal kids. The four goats that were fed M. tenuiflora during pregnancy delivered 4 kids, 3 of which had abnormalities similar to those observed in field cases, including cleft lip, unilateral corneal opacity, ocular bilateral dermoids, buphthalmos with a cloudy brownish appearance of the anterior chamber due to an iridal cyst, and segmental stenosis of the colon. Malformations induced experimentally by M. tenuiflora were similar to those observed in field cases, suggesting that M. tenuiflora is a cause of the field cases observed in the Brazilian semiarid rangelands. PMID:18039908

  10. Congenital Tracheal Web Malformation in a Wild Brown Bear ( Ursus arctos ), Sweden, 2010.

    PubMed

    Ågren, Erik O; Söderberg, Arne

    2016-04-28

    We describe a congenital tracheal web malformation in a wild female brown bear (Ursus arctos) yearling that was euthanized after being hit by a train in Norrbotten County, Sweden, December 2010. A 3-cm-long, abnormal, longitudinal mucosal fold divided the trachea into two halves, without obviously blocking the airflow. PMID:27054473

  11. The Arnold-Chiari Malformation and Its Implications for Individuals with Spina Bifida and Hydrocephalus.

    ERIC Educational Resources Information Center

    Mittler, Joel E.

    1986-01-01

    The Arnold-Chiari malformation is present in most infants born with myelomeningocele (a form of spina bifida) and hydrocephalus. The syndrome is responsible for structural abnormalities in the brain, and peripheral nervous system. Etiology, symptoms, impact on central nervous system structures, surgical treatment, and implications for education…

  12. Screening for Developmental Neurotoxicity in Zebrafish Larvae: Assessment of Behavior and Malformations.

    EPA Science Inventory

    The U.S. Environmental Protection Agency is evaluating methods to screen and prioritize large numbers of chemicals for developmental toxicity. As part of this approach, it is important to be able to separate overt toxicity (Le., malformed larvae) from the more specific neurotoxic...

  13. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Clinically significant cardiovascular malformations (CVMs) occur in 5-8 per 1000 live births. Recurrent copy number variations (CNVs) are among the known causes of syndromic CVMs, accounting for an important fraction of cases. We hypothesized that many additional rare CNVs also cause CVMs and can be...

  14. Combined laser and surgical treatment of giant port wine stain malformation - Case report

    NASA Astrophysics Data System (ADS)

    Siewiera, I.; Drozdowski, P.; Wójcicki, P.

    2012-10-01

    Background:Port-wine stains (PWS) are vascular malformations of the skin concerning about 0,3% of the population. Though various laser systems have been used for various treatment regimens the treatment of PWS of large size is especially difficult and demanding from aesthetic and psychological point of view.

  15. [A Clinical Study of the Sclerotherapy for Large Venous Malformations of the Pharyngolarynx with Airway Stenosis].

    PubMed

    Mada, Yusuke; Koshitsuka, Keiichi; Ueki, Yuji; Konno, Akiyoshi

    2015-11-01

    We treated four cases of airway stenosis associated with large venous malformations of the pharyngolarynx. The patients ranged in age from 33 to 53 years, and consisted of one male and three females. The venous malformation was located in the posterior wall of the oropharynx in two cases, in the hypopharynx in. one case, and in the anterior wall of the oropharynx in one case. All the patients complained of shortness of breath upon adopting the supine position. The patients were tracheotomized under general anesthesia and treated by sclerotherapy under videolaryngoscopic guidance. We used absolute ethanol, polidocanol or monoethanolamine oleate, as appropriate, depending on the case. In regard to the efficacy of the sclerotherapy, the venous malformation disappeared in one case and reduced in size in the remaining three cases, and no severe adverse events were recognized in any of the cases. All the patients were discharged from the hospital within two weeks and did not need tracheostomy. Sclerotherapy umder videolaryngoscopic guidance is effective for the treatment of large venous malformations in the pharyngolarynx. PMID:26827597

  16. Bilateral Vocal Fold Paralysis After Surgery Immediately in Adult Patient With Chiari Malformation.

    PubMed

    Chen, Yan; Yue, Jianhong; Yuan, Weixiu

    2016-06-01

    The authors report the case of a 50-year-old woman with a bilateral vocal fold paralysis after foramen magnum decompression and resection of partial cerebellar tonsil for Chiari malformation. The possible mechanisms of postoperative bilateral vocal fold paralysis are discussed. PMID:27152564

  17. Ruptured Aneurysm of Intercostal Arteriovenous Malformation Associated With Neurofibromatosis Type 1: A Case Report

    SciTech Connect

    Kim, Hyung Jun; Seon, Hyun Ju Choi, Song; Jang, Nam Kyu

    2011-02-15

    Intercostal arteriovenous malformations (AVM) are rare, with most being secondary to trauma or iatrogenic therapeutic procedures. Only one case of presumably congenital AVM has been reported. Here we report the first case of a ruptured aneurysm of intercostal AVM associated with neurofibromatosis type 1 in a 32-year-old woman who experienced hypovolemic shock caused by massive hemothorax.

  18. Correlation of pressure measurements with angiographic characteristics predisposing to hemorrhage and steal in cerebral arteriovenous malformations

    SciTech Connect

    Norbash, A.M.; Marks, M.P.; Lane, B.

    1994-05-01

    To determine whether there is a physiologic explanation for the predisposition of patients with certain angiographic characteristics to symptoms of hemorrhage and steal. Superselective transcatheter feeding arterial pressure and mean arterial pressure measurements were obtained before embolotherapy in 32 patients with cerebral arteriovenous malformations. Pressures were correlated with previously described angioarchitectural characteristics predisposing to hemorrhage and steal. These included size of the arteriovenous malformation, feeding artery length, venous drainage pattern, and angiomatous change. The feeding arterial pressure and feeding arterial pressure/mean arterial pressure ratios were significantly decreased in patients with angiomatous change. Feeding arterial pressure and feeding arterial pressure/mean arterial pressure ratios progressively decreased as lesions went from peripheral, to mixed, to central venous drainage. A trend for lower feeding arterial pressure was also demonstrated with greater feeding pedicle length. A statistically significant correlation could not be demonstrated between feeding arterial pressure or feeding arterial pressure/mean arterial pressure ratios and size of the arteriovenous malformation, hemorrhage, or symptoms of steal. Feeding arterial pressure measurements help provide a physiologic basis for the relationship between certain angiographic characteristics and hemorrhage and steal symptoms in patients with arteriovenous malformation. 27 refs., 1 fig.

  19. Proanthocyanidins Prevent High Glucose-Induced Eye Malformation by Restoring Pax6 Expression in Chick Embryo

    PubMed Central

    Tan, Rui-Rong; Zhang, Shi-Jie; Li, Yi-Fang; Tsoi, Bun; Huang, Wen-Shan; Yao, Nan; Hong, Mo; Zhai, Yu-Jia; Mao, Zhong-Fu; Tang, Lu-Ping; Kurihara, Hiroshi; Wang, Qi; He, Rong-Rong

    2015-01-01

    Gestational diabetes mellitus (GDM) is one of the leading causes of offspring malformations, in which eye malformation is an important disease. It has raised demand for therapy to improve fetal outcomes. In this study, we used chick embryo to establish a GDM model to study the protective effects of proanthocyanidins on eye development. Chick embryos were exposed to high glucose (0.2 mmol/egg) on embryo development day (EDD) 1. Proanthocyanidins (1 and 10 nmol/egg) were injected into the air sac on EDD 0. Results showed that both dosages of proanthocyanidins could prevent the eye malformation and rescue the high glucose-induced oxidative stress significantly, which the similar effects were showed in edaravone. However, proanthocyanidins could not decrease the glucose concentration of embryo eye. Moreover, the key genes regulating eye development, Pax6, was down-regulated by high glucose. Proanthocyanidins could restore the suppressed expression of Pax6. These results indicated proanthocyanidins might be a promising natural agent to prevent high glucose-induced eye malformation by restoring Pax6 expression. PMID:26262640

  20. Genetic Modifiers of the Physical Malformations in Velo-Cardio-Facial Syndrome/DiGeorge Syndrome

    ERIC Educational Resources Information Center

    Aggarwal, Vimla S.; Morrow, Bernice E.

    2008-01-01

    Velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS), the most common micro-deletion disorder in humans, is characterized by craniofacial, parathyroid, and thymic defects as well as cardiac outflow tract malformations. Most patients have a similar hemizygous 3 million base pair deletion on 22q11.2. Studies in mouse have shown that "Tbx1", a…