Ecological Restoration of Antibiotic-Disturbed Gastrointestinal Microbiota in Foregut and Hindgut of Cows

Science.gov (United States)

Ji, Shoukun; Jiang, Tao; Yan, Hui; Guo, Chunyan; Liu, Jingjing; Su, Huawei; Alugongo, Gibson M.; Shi, Haitao; Wang, Yajing; Cao, Zhijun; Li, Shengli

2018-01-01

Antibiotically disturbed gastrointestinal microbiota needs a long period time to be restored to normal, which may cause a series of problems to the host. The understanding of restoration of the biased microbiota by antibiotics remains largely unknown. Here, we investigated the microbiota shift in foregut (rumen) and hindgut (rectum) of lactating cows after antibiotics exposure as well as after antibiotics withdrawal with (Microbiota transplantation, MT group) or without (Control, CON group) microbiota transplantation. We were able to demonstrate that microbiota in both foregut and hindgut significantly changed after 3 or 14 days of antibiotics exposure, and the changes persisted over long period of time (>18 days) after withdrawing the antibiotics. We further observed a faster restoration of microbiota in both foregut and hindgut of MT group than CON group, microbiota in foregut was mainly benefited from microbiota transplantation by restoring the alpha-diversity as well as within-group similarity, while microbiota in hindgut was primarily benefited from microbiota transplantation by reestablishing the co-occurrence network (nodes number, edges number, density, modularity as well as closeness centrality). These results together expanded our understanding of restoration of the biased microbiota by antibiotics, and may also be instructive to deal with the delayed microbiota restoration at least in cows. PMID:29594071

Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

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Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

2014-11-15

Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

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

NARCIS (Netherlands)

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

2004-01-01

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

Ciliated Hepatic Foregut Cyst: Two Case Reports in Children and Review of the Literature

Directory of Open Access Journals (Sweden)

Maliheh Khoddami

2013-01-01

Full Text Available Ciliated hepatic foregut cyst (CHFC is a rare lesion which originates from detached hepatic diverticulum or from detachment and migration of buds from the esophageal and bronchial regions of the foregut which subsequently get entrapped by the liver during the early embryonic development of the foregut. CHFCs are mostly seen in adults and are rarely reported in children, with only about 10 cases reported in this age group. Hereby, we present two cases of CHFC in two 3.5-year-old boys; one of them had cystic lesion at medial segment of left lobe of liver (common site, and in the other one it was located at right lobe of liver (less common site. Histologically, both cysts had four layers composed of inner ciliated, pseudostratified, columnar epithelium; subepithelial connective tissue; smooth muscle layer; and an outer fibrous layer.

Ciliated hepatic foregut cyst: a rare cystic liver lesion

African Journals Online (AJOL)

Adele

2 The majority (55) of these cases have been reported in the last 25 years as imaging techniques have improved. CHFC are thought to arise from the embryologic foregut, as do bronchial and oesophageal cysts, but do not contain cartilage.3 ...

Facial vascular malformations in children

International Nuclear Information System (INIS)

Brunelle, F.O.; Lallemand, D.; Chaumont, P.; Teillac, D.; Manach, Y.

1988-01-01

The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

Modelling digestive constraints in non-ruminant and ruminant foregut-fermenting mammals.

Science.gov (United States)

Munn, Adam J; Streich, W Jürgen; Hummel, Jürgen; Clauss, Marcus

2008-09-01

It has been suggested that large foregut-fermenting marsupial herbivores, the kangaroos and their relatives, may be less constrained by food intake limitations as compared with ruminants, due mainly to differences in their digestive morphology and management of ingesta particles through the gut. In particular, as the quality of forage declines with increasing contents of plant fibre (cellulose, hemicelluloses and lignin; measured as neutral-detergent fibre, NDF), the tubiform foregut of kangaroos may allow these animals to maintain food intakes more so than ruminants like sheep, which appear to be limited by fibrous bulk filling the foregut and truncating further ingestion. Using available data on dry matter intake (DMI, g kg(-0.75) d(-1)), ingesta mean retention time (MRT, h), and apparent digestibility, we modelled digestible dry matter intake (DDMI) and digestible energy intake (DEI) by ruminant sheep (Ovis aries) and by the largest marsupial herbivore, the red kangaroo (Macropus rufus). Sheep achieved higher MRTs on similar DMIs, and hence sheep achieved higher DDMIs for any given level of DMI as compared with kangaroos. Interestingly, MRT declined in response to increasing DMI in a similar pattern for both species, and the association between DMI and plant NDF contents did not support the hypothesis that kangaroos are less affected by increasing fibre relative to sheep. However, when DEI was modelled according to DDMIs and dietary energy contents, we show that the kangaroos could meet their daily maintenance energy requirements (MER) at lower levels of DMI and on diets with higher fibre contents compared with sheep, due largely to the kangaroos' lower absolute maintenance and basal energy metabolisms compared with eutherians. These results suggest that differences in the metabolic set-point of different species can have profound effects on their nutritional niche, even when their digestive constraints are similar, as was the case for these ruminant and non

[Diagnostic value of high-resolution computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe

2007-02-01

To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.

In Vitro Biodegradation of Hepatotoxic Indospicine in Indigofera spicata and Its Degradation Derivatives by Camel Foregut and Cattle Rumen Fluids.

Science.gov (United States)

Tan, Eddie T T; Al Jassim, Rafat; D'Arcy, Bruce R; Fletcher, Mary T

2017-08-30

The known accumulation of the hepatotoxin indospicine in tissues of camels and cattle grazing Indigofera pasture plants is unusual in that free amino acids would normally be expected to be degraded during the fermentation processes in these foregut fermenters. In this study, in vitro experiments were carried out to examine the degradability of indospicine of Indigofera spicata by camel and cattle foregut microbiota. In the first experiment, a 48 h in vitro incubation was carried out using foregut fluid samples that were collected from 15 feral camels and also a fistulated cow. Degradability of indospicine ranged between 97% and 99%, with the higher value of 99% for camels. A pooled sample of foregut fluids from three camels that were on a roughage diet was used in a second experiment to examine the time-dependent degradation of indospicine present in the plant materials. Results indicated that camels' foregut fluids have the ability to biodegrade ∼99% of the indospicine in I. spicata within 48 h of incubation and produced 2-aminopimelamic acid and 2-aminopimelic acid. The time-dependent degradation analysis showed rapid indospicine degradation (65 nmol/h) during the first 8-18 h of incubation followed by a slower degradation rate (12 nmol/h) between 18 and 48 h. Indospicine degradation products were also degraded toward the end of the experiment. The results of these in vitro degradation studies suggest that dietary indospicine may undergo extensive degradation in the foregut of the camel, resulting in trace levels after 48 h. The retention time for plant material in the camel foregut varies depending on feed quality, and the results of this study together with the observed accumulation of indospicine in camel tissues suggest that, although indospicine can be degraded by foregut fermentation, this degradation is not complete before the passage of the digesta into the intestine.

Chiari malformations: diagnosis, treatments and failures.

Science.gov (United States)

Abd-El-Barr, M M; Strong, C I; Groff, M W

2014-12-01

Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change.

[Diagnostic significance of multi-slice computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Liu, Fang; Tian, Zhi-Liang; Lei, Zi-Qiao; Li, You-Lin; Kong, Wei-Jia

2005-04-01

To evaluate the feasibility and usability of multi-slice computed tomography (MSCT) in congenital inner ear malformations. Fourty-four patients with sensorineural hearing loss (SNHL) were examined by a Somatom Sensation 16 (siemens, Germany) CT scanner with following parameters: 120 kV, 100 mAs, 0.75 mm collimation, 1 mm reconstruction increment, a pitch factor of 1 and a field of view of 100 mm. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment, and a field of view of 50 mm. The 3D reconstructions were done with volume rendering technique (VRT) on the workstation (3D Virtuoso and Wizard,siemens). Twenty-five patients were normal and 19 patients (36 ears) were congenital inner ear malformations among 44 patients scanned with MSCT. Of the malformations, all the axial, MPR and VRT images can display the site and degree in 33 ears. VRT images were superior to the axial images in displaying the malformations in 3 ears with the small lateral semicircular canal malformations. The malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity, 5 ears), vestibular and semicircular canal malformations( 14 ears), vestibular aqueduct dilate( 16 ears, of which 6 ears accompanied by other malformations), the internal auditory canal malformation(8 ears, all accompanied by other malformations). MSCT allows a comprehensively assessing various congenital ear malformations through high quality MPR and VRT reconstructions. VRT images can display the site and degree of the malformations three-dimensionally and intuitionisticly. It is very useful to the cochlear implantation.

Congenital cystic adenomatoid malformation

International Nuclear Information System (INIS)

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

2003-01-01

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

Fetal magnetic resonance imaging of thoracic and abdominal malformations

International Nuclear Information System (INIS)

Woitek, R.; Asenbaum, U.; Furtner, J.; Prayer, D.; Brugger, P.C.

2013-01-01

Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.) [de

The effect of adriamycin exposure on the notochord of mouse embryos.

Science.gov (United States)

Hajduk, Piotr; May, Alison; Puri, Prem; Murphy, Paula

2012-04-01

The notochord has important structural and signaling properties during vertebrate development with key roles in patterning surrounding tissues, including the foregut. The adriamycin mouse model is an established model of foregut anomalies where exposure of embryos in utero to the drug adriamycin leads to malformations including oesophageal atresia and tracheoesophageal fistula. In addition to foregut abnormalities, treatment also causes branching, displacement, and hypertrophy of the notochord. Here, we explore the hypothesis that the notochord may be a primary target of disruption leading to abnormal patterning of the foregut by examining notochord position and structure in early embryos following adriamycin exposure. Treated (n = 46) and control (n = 30) embryos were examined during the crucial period when the notochord normally delaminates away from the foregut endoderm (6-28 somite pairs). Transverse sections were derived from the anterior foregut and analyzed by confocal microscopy following immunodetection of extracellular matrix markers E-cadherin and Laminin. In adriamycin-treated embryos across all stages, the notochord was abnormally displaced ventrally with prolonged attachment to the foregut endoderm. While E-cadherin was normally detected in the foregut endoderm with no expression in the notochord of control embryos, treated embryos up to 24 somites showed ectopic notochordal expression indicating a change in characteristics of the tissue; specifically an increase in intracellular adhesiveness, which may be instrumental in structural changes, affecting mechanical and signaling properties. This is consistent with disruption of the notochord leading to altered signaling to the foregut causing abnormal patterning and congenital foregut malformations. © 2012 Wiley Periodicals, Inc.

Foregut cancers get new attention at CCR | Center for Cancer Research

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The newly formed NIH Foregut Team will focus on cancers of the esophagus, stomach, pancreas, liver, bile ducts and part of the small intestine. Although these tumors are not the most common types of cancers, they are among the deadliest. Learn more...

Subdural hematoma from a cavernous malformation.

Science.gov (United States)

Schmitt, Anne J; Mitha, Alim P; Germain, Rasha; Eschbacher, Jennifer; Spetzler, Robert F

2014-01-01

To present a case of a cavernous malformation presenting with a subdural hematoma. A 27-year-old woman was admitted with progressively worsening headache, vomiting, weakness, and word-finding difficulties 1 week after she was discharged from an outside hospital, where she was managed conservatively for a presumed traumatic subdural hematoma. Computed tomography revealed an enlarging subacute left hemispheric subdural hematoma for which she underwent drill craniostomy. Postprocedural magnetic resonance imaging showed a posterior left temporal lobe mass consistent with a cavernous malformation juxtaposed with the subdural hematoma. Craniotomy for resection of the lesion was performed. She had an uncomplicated postoperative course and experienced a good recovery. The signs and symptoms, diagnostic imaging, and intraoperative findings suggest that the subdural hematoma was caused by extralesional hemorrhage of the cavernous malformation, which is a rare finding associated with these malformations. The clinical course, radiologic, and intraoperative findings suggest that the subdural hemorrhage was caused by extralesional hemorrhage of the cavernous malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

Stent-over-sponge (SOS): a novel technique complementing endosponge therapy for foregut leaks and perforations.

Science.gov (United States)

Valli, Piero V; Mertens, Joachim C; Kröger, Arne; Gubler, Christoph; Gutschow, Christian; Schneider, Paul M; Bauerfeind, Peter

2018-02-01

 Endoluminal vacuum therapy (EVT) has evolved as a promising option for endoscopic treatment of foregut wall injuries in addition to the classic closure techniques using clips or stents. To improve vacuum force and maintain esophageal passage, we combined endosponge treatment with a partially covered self-expandable metal stent (stent-over-sponge; SOS).  Twelve patients with infected upper gastrointestinal wall defects were treated with the SOS technique.  Indications for SOS were anastomotic leakage after surgery (n = 11) and chronic foregut fistula (n = 1). SOS treatment was used as a first-line treatment in seven patients with a success rate of 71.4 % (5/7) and as a second-line treatment after failed previous EVT treatment in five patients (success rate 80 %; 4/5). Overall, SOS treatment was successful in 75 % of patients (9/12). No severe adverse events occurred. CONCLUSION : SOS is an effective method to treat severely infected foregut wall defects in patients where EVT has failed, and also as a first-line treatment. Comparative prospective studies are needed to confirm our preliminary results. © Georg Thieme Verlag KG Stuttgart · New York.

Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation

International Nuclear Information System (INIS)

Buesing, K.A.; Kilian, A.K.; Neff, K.W.; Schaible, T.

2006-01-01

Despite advancing therapeutic strategies, congenital cystadenomatoid malformation of the fetal lung is still a potentially life-threatening anomaly. Antenatally, the development of hydrops as well as the natural history of the malformation is of particular therapeutic and prognostic importance. Postnatally, respiratory distress due to pulmonary hypoplasia counts as a crucial limiting factor. Owing to its feasibility and practicability, as well as a high sensitivity, antenatal ultrasound is still the screening method of choice for the detection of fetal thoracic malformations. However, particularly in cases of indistinguishable sonographic findings, fetal MRI is the modality of choice for proving the diagnosis and preliminary appraisal of intensive care therapy and extracorporal membrane oxygenation postnatally. Furthermore, fetal MRI often facilitates assessment and planning of intrauterine surgical procedures. These two features frequently require a close transfer to an expert neonatal centre. (orig.) [de

Vascular malformations in pediatrics; Vaskulaere Erkrankungen bei Neugeborenen, Saeuglingen und Kindern

Energy Technology Data Exchange (ETDEWEB)

Reith, W. [Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik Homburg/Saar (Germany); Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik, 66421, Homburg/Saar (Germany); Shamdeen, M.G. [Kinderklinik, Universitaetsklinikum Homburg/Saar (Germany)

2003-11-01

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [German] Vaskulaere Malformationen sind die haeufigste Ursache einer intrakraniellen Blutung im Saeuglings- und Kindesalter. Deswegen sollte jedes Kind mit einer intrakraniellen Blutung auf eine vaskulaere Malformation und Kindesmisshandlung untersucht werden. Intrazerebrale Gefaessmalformationen beinhalten Vena-Galeni-Anomalien, arteriovenoese Malformationen (AVM), Kavernome, durale arteriovenoese Fisteln, kapillaere Teleangiektasien und venoese Anlagevarianten (DVA). Obwohl einige familiaere Gefaessmalformationen beschrieben sind, tritt die ueberwiegende Mehrzahl spontan auf. Die Klinik, Diagnostik und therapeutischen Optionen werden diskutiert. (orig.)

Oesophageal pseudodiverticulum after foregut duplication cyst excision: Case report and literature review

Directory of Open Access Journals (Sweden)

Iuliana D Bobanga

2016-01-01

Full Text Available Oesophageal pseudodiverticula rarely occur after excision of benign oesophageal neoplasms. While management and outcomes have been reported in the adult leiomyoma literature, sparse data exist on the occurrence and management of pseudodiverticula after foregut duplication cyst excision. We discuss our experience with a paediatric patient and review relevant literature regarding operative techniques and surgical outcomes.

Right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus

International Nuclear Information System (INIS)

Lee, Peter; McCauley, Roy; Westra, Sjirk; Baba, Timothy

2006-01-01

Pulmonary aplasia and bronchopulmonary foregut malformations in which a patent communication between the foregut and the pulmonary system is present are rare congenital abnormalities. Pulmonary aplasia associated with a pulmonary sling is an even rarer abnormality. We report a unique case of right pulmonary aplasia, aberrant left pulmonary artery, and bronchopulmonary sequestration with an esophageal bronchus diagnosed by multidetector helical CT. (orig.)

Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

Science.gov (United States)

... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (7 links) Boston Children's Hospital: Arteriovenous Malformation Boston Children's Hospital: Capillary Malformation ...

Abernethy malformation: a case report

Directory of Open Access Journals (Sweden)

Pathak Ashish

2012-05-01

Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

Functional Resilience and Response to a Dietary Additive (Kefir in Models of Foregut and Hindgut Microbial Fermentation In Vitro

Directory of Open Access Journals (Sweden)

Gabriel de la Fuente

2017-06-01

Full Text Available Stability in gut ecosystems is an important area of study that impacts on the use of additives and is related with several pathologies. Kefir is a fermented milk drink made with a consortium of yeast and bacteria as a fermentation starter, of which the use as additive in companion and livestock animals has increased in the last few years. To investigate the effect of kefir milk on foregut and hindgut digestive systems, an in vitro approach was followed. Either rumen fluid or horse fecal contents were used as a microbial inoculate and the inclusion of kefir (fresh, autoclaved, or pasteurized was tested. Gas production over 72 h of incubation was recorded and pH, volatile fatty acids (VFAs, lactate and ammonia concentration as well as lactic acid (LAB and acetic acid bacteria, and yeast total numbers were also measured. Both direct and indirect (by subtracting their respective blanks effects were analyzed and a multivariate analysis was performed to compare foregut and hindgut fermentation models. Addition of kefir boosted the fermentation by increasing molar concentration of VFAs and ammonia and shifting the Acetate to Propionate ratio in both models but heat processing techniques like pasteurization or autoclaving influenced the way the kefir is fermented and reacts with the present microbiota. In terms of comparison between both models, the foregut model seems to be less affected by the inclusion of Kefir than the hindgut model. In terms of variability in the response, the hindgut model appeared to be more variable than the foregut model in the way that it reacted indirectly to the addition of different types of kefir.

Functional Resilience and Response to a Dietary Additive (Kefir) in Models of Foregut and Hindgut Microbial Fermentation In Vitro.

Science.gov (United States)

de la Fuente, Gabriel; Jones, Eleanor; Jones, Shann; Newbold, Charles J

2017-01-01

Stability in gut ecosystems is an important area of study that impacts on the use of additives and is related with several pathologies. Kefir is a fermented milk drink made with a consortium of yeast and bacteria as a fermentation starter, of which the use as additive in companion and livestock animals has increased in the last few years. To investigate the effect of kefir milk on foregut and hindgut digestive systems, an in vitro approach was followed. Either rumen fluid or horse fecal contents were used as a microbial inoculate and the inclusion of kefir (fresh, autoclaved, or pasteurized) was tested. Gas production over 72 h of incubation was recorded and pH, volatile fatty acids (VFAs), lactate and ammonia concentration as well as lactic acid (LAB) and acetic acid bacteria, and yeast total numbers were also measured. Both direct and indirect (by subtracting their respective blanks) effects were analyzed and a multivariate analysis was performed to compare foregut and hindgut fermentation models. Addition of kefir boosted the fermentation by increasing molar concentration of VFAs and ammonia and shifting the Acetate to Propionate ratio in both models but heat processing techniques like pasteurization or autoclaving influenced the way the kefir is fermented and reacts with the present microbiota. In terms of comparison between both models, the foregut model seems to be less affected by the inclusion of Kefir than the hindgut model. In terms of variability in the response, the hindgut model appeared to be more variable than the foregut model in the way that it reacted indirectly to the addition of different types of kefir.

Functional Resilience and Response to a Dietary Additive (Kefir) in Models of Foregut and Hindgut Microbial Fermentation In Vitro

Science.gov (United States)

de la Fuente, Gabriel; Jones, Eleanor; Jones, Shann; Newbold, Charles J.

2017-01-01

Stability in gut ecosystems is an important area of study that impacts on the use of additives and is related with several pathologies. Kefir is a fermented milk drink made with a consortium of yeast and bacteria as a fermentation starter, of which the use as additive in companion and livestock animals has increased in the last few years. To investigate the effect of kefir milk on foregut and hindgut digestive systems, an in vitro approach was followed. Either rumen fluid or horse fecal contents were used as a microbial inoculate and the inclusion of kefir (fresh, autoclaved, or pasteurized) was tested. Gas production over 72 h of incubation was recorded and pH, volatile fatty acids (VFAs), lactate and ammonia concentration as well as lactic acid (LAB) and acetic acid bacteria, and yeast total numbers were also measured. Both direct and indirect (by subtracting their respective blanks) effects were analyzed and a multivariate analysis was performed to compare foregut and hindgut fermentation models. Addition of kefir boosted the fermentation by increasing molar concentration of VFAs and ammonia and shifting the Acetate to Propionate ratio in both models but heat processing techniques like pasteurization or autoclaving influenced the way the kefir is fermented and reacts with the present microbiota. In terms of comparison between both models, the foregut model seems to be less affected by the inclusion of Kefir than the hindgut model. In terms of variability in the response, the hindgut model appeared to be more variable than the foregut model in the way that it reacted indirectly to the addition of different types of kefir. PMID:28702019

Temporal regulation of foregut development by HTZ-1/H2A.Z and PHA-4/FoxA.

Directory of Open Access Journals (Sweden)

Dustin L Updike

2006-09-01

Full Text Available The histone variant H2A.Z is evolutionarily conserved and plays an essential role in mice, Drosophila, and Tetrahymena. The essential function of H2A.Z is unknown, with some studies suggesting a role in transcriptional repression and others in activation. Here we show that Caenorhabditis elegans HTZ-1/H2A.Z and the remodeling complex MYS-1/ESA1-SSL-1/SWR1 synergize with the FoxA transcription factor PHA-4 to coordinate temporal gene expression during foregut development. We observe dramatic genetic interactions between pha-4 and htz-1, mys-1, and ssl-1. A survey of transcription factors reveals that this interaction is specific, and thus pha-4 is acutely sensitive to reductions in these three proteins. Using a nuclear spot assay to visualize HTZ-1 in living embryos as organogenesis proceeds, we show that HTZ-1 is recruited to foregut promoters at the time of transcriptional onset, and this recruitment requires PHA-4. Loss of htz-1 by RNAi is lethal and leads to delayed expression of a subset of foregut genes. Thus, the effects of PHA-4 on temporal regulation can be explained in part by recruitment of HTZ-1 to target promoters. We suggest PHA-4 and HTZ-1 coordinate temporal gene expression by modulating the chromatin environment.

Prenatal radiographic diagnosis of alpha-fetoprotein positive malformations in early pregnancy

International Nuclear Information System (INIS)

Probst, F.P.; Sigurd, J.

1980-01-01

Early diagnosis of two malformed fetuses with positive alpha-fetoprotein test of the amniotic fluid with the aid of amniography is reported. Radiographic, diagnostic and prognostic aspects are discussed. (Auth.)

Prenatal diagnostics of congenital malformations, the most efficient way to decrease genetic consequences of Chernobyl accident; Perinatal'naya diagnostika vrozhdennykh porokov razvitiya - naibolee ehffektivnyj metod minimizatsii geneticheskikh posledstvij Chernobyl'skoj katastrofy

Energy Technology Data Exchange (ETDEWEB)

Lazjuk, G I; Zatsepin, I O; Kravchuk, Zn P; Khmel, R D

2003-04-01

Long-term study of the prevalence of congenital malformations (CM) in the population of Belarus, carried out by Belarus Institute for Hereditary Diseases, showed considerably increased, from 5.6% in 1980-1985 to 7.2% in 1986-1996, frequency of the anomalies found in embryos, increased number of malformations in induced abortuses and also the growth of CM in newborns, from 5 in 1983-1985 to 7.2 in 2001, in post-Chernobyl period. The highest raise was registered in the mostly contaminated with Cs-137 areas in the first post-Chernobyl years. There are various reasons for the observed increase, but they are still not clearly understood. Nutrition imbalance (deficit of vitamins, essential amino acids and soluble selenium), physoemotional stress, hormone imbalance, alcoholism and increased level of mutations due to additional exposure of the gonads of the residents of contaminated areas of the Republic can have some impact. Positive prevalence trend of multifactorial anomalies evidences multifactorial origin of the increased prevalence of embryonal anomalies. Both, increased prevalence of CM with great contribution of dominant mutations and the peak of Down's syndrome cases, recorded in January, 1987 with maximum in Gomel region, suggest mutation component. At present, the most efficient measures to prevent the birth of malformed children are prenatal diagnostics and vitamin supplement of the couples, who plan their pregnancy, and pregnant women in the first trimester. According to the conclusion, made by WHO experts, vitamin intake can considerably reduce many CM with multifactorial origin. Positive results can be achieved only if the problem is solved by the government, when vitamins are added to flour, cereals and bread. Prenatal diagnostics with subsequent termination of pregnancy, where incurable anomalies are found, contributes greatly to the reduction of the proportion of malformed newborns, irrespective of the factors, which caused the anomalies. Thus, in Belarus

Cardiac and vascular malformations; Fehlbildungen von Herz und Gefaessen

Energy Technology Data Exchange (ETDEWEB)

Ley, S. [Chirurgische Klinik Dr. Rinecker, Abteilung fuer Diagnostische und Interventionelle Radiologie, Muenchen (Germany); Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Muenchen (Germany); Ley-Zaporozhan, J. [Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Abteilung Paediatrische Radiologie, Muenchen (Germany)

2015-07-15

Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.) [German] Fehlbildungen von Herz und Gefaessen zeigen einen erheblichen Variationsspielraum. Es gibt zahlreiche Varianten und Defekte mit geringer Auspraegung, welche nur per Zufall im Lauf des Lebens detektiert werden; hierzu zaehlen z. B. die persistierende linke obere Hohlvene oder partielle Lungenvenenfehlmuendungen. Andere kardiovaskulaere Fehlbildungen zeigen sich frueh post partum und muessen zeitnah, meist operativ, versorgt werden. Zu diesem Zeitpunkt ist die Echokardiographie ein etabliertes und vollstaendig ausreichendes Verfahren zur morphologischen und funktionellen Charakterisierung. Nur in seltenen Faellen wird eine zusaetzliche Bildgebung mittels CT oder MRT benoetigt. Wenn ja, stellen die kleinen anatomischen Strukturen, die physiologische Tachykardie und Tachypnoe eine besondere Herausforderung fuer die Diagnostik dar. In dieser Uebersicht werden, unabhaengig vom diagnostischen Verfahren, die haeufigsten vaskulaeren, kardialen und komplexen kardiovaskulaeren Malformationen

Wnt ligands signal in a cooperative manner to promote foregut organogenesis

OpenAIRE

Miller, Mayumi F.; Cohen, Ethan David; Baggs, Julie E.; Lu, Min Min; Hogenesch, John B.; Morrisey, Edward E.

2012-01-01

Endoderm-mesenchyme cross-talk is a central process in the development of foregut-derived organs. How signaling pathways integrate the activity of multiple ligands to guide organ development is poorly understood. We show that two Wnt ligands, Wnt2 and Wnt7b, cooperatively induce Wnt signaling without affecting the stabilization of the Wnt canonical effector β-catenin despite it being necessary for Wnt2–Wnt7b cooperativity. Wnt2–Wnt7b cooperation is specific for mesenchymal cell lineages and t...

Imaging findings and therapeutic alternatives for peripheral vascular malformations

International Nuclear Information System (INIS)

Monsignore, Lucas Moretti; Nakiri, Guilherme Seizem; Santos, Daniela dos; Abud, Thiago Giansante; Abud, Daniel Giansante

2010-01-01

Peripheral vascular malformations represent a spectrum of lesions that appear through the lifetime and can be found in the whole body. Such lesions are uncommon and are frequently confounded with infantile hemangioma, a common benign neoplastic lesion. In the presence of such lesions, the correlation between the clinical and radiological findings is extremely important to achieve a correct diagnosis, which will guide the best therapeutic approach. The most recent classifications for peripheral vascular malformations are based on the blood flow (low or high) and on the main vascular components (arterial, capillary, lymphatic or venous). Peripheral vascular malformations represent a diagnostic and therapeutic challenge, and complementary methods such as computed tomography, Doppler ultrasonography and magnetic resonance imaging, in association with clinical findings can provide information regarding blood flow characteristics and lesions extent. Arteriography and venography confirm the diagnosis, evaluate the lesions extent and guide the therapeutic decision making. Generally, low flow vascular malformations are percutaneously treated with sclerosing agents injection, while in high flow lesions the approach is endovascular, with permanent liquid or solid embolization agents. (author)

Congenital malformation of inner ear, single cavity

International Nuclear Information System (INIS)

Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

2010-01-01

Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

A series of parapharyngeal glial heterotopia mimicking lymphatic malformation.

Science.gov (United States)

Haloob, Nora; Pepper, Christopher; Hartley, Benjamin

2015-12-01

Otolaryngologists will most frequently encounter extra-cranial glial tissue within the nasal cavity, where it is known as a 'nasal glioma', and may communicate with the dura. However, glial tissue can also present extra-nasally in the form of a neck mass with no intracranial connection. In these rare cases, they can present soon after birth as an enlarging neck mass, causing compressive symptoms with airway obstruction and feeding difficulties. In this way, it is often initially misdiagnosed as a more common lesion such as a lymphatic malformation, teratoma, branchial anomaly or vascular malformation. As with many congenital head and neck masses, offering the most the appropriate management relies heavily on radiological imaging and, where possible, histopathology from a diagnostic biopsy. Once the diagnosis of extra-nasal glial heterotopia has been confirmed, the gold standard management is complete surgical excision. We review three cases of extra-nasal glial heterotopia presenting to our institution over an eleven year period as a large neck mass, which mimicked other congenital neck lumps, and discuss them in the context of those in the literature. We highlight how their clinical and radiological features can easily be confused with lymphatic malformations, and the potential implications of misdiagnosis. Raising awareness of this diagnostic confusion will highlight the need for management of these cases within an appropriate paediatric multidisciplinary setting. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Spatial characterization of proteolytic enzyme activity in the foregut region of the adult necrophagous fly, Protophormia terraenovae.

Science.gov (United States)

Rivers, David B; Acca, Gillian; Fink, Marc; Brogan, Rebecca; Schoeffield, Andrew

2014-08-01

The spatial distribution of proteolytic enzymes in the adult foregut of Protophormia terraenovae was studied in the context of protein digestion and regurgitation. Based on substrate specificity, pH optima, and use of specific protease inhibitors, all adults tested displayed enzyme activity in the foregut consistent with pepsin, trypsin and chymotrypsin. Chymotrypsin-like and trypsin-like enzyme activity were detected in all gut fluids and tissues tested, with chymotrypsin displaying the highest activity in saliva and salivary gland tissue, whereas maximal trypsin activity was evident in the crop. Pepsin-like activity was only evident in crop fluids and tissues. The activity of all three enzymes was low or undetectable (pepsin) in the fluids and tissue homogenates derived from the esophagus and cardia of any of the adults assayed. Fed adult females displayed higher enzyme activities than fed males, and the activity of all three enzymes were much more prevalent in fed adults than starved. The pH optimum of the trypsin-like enzyme was between pH 7.0 and 8.0; chymotrypsin was near pH 8.0; and maximal pepsin-like activity occurred between pH 1.0 and 2.0. Regurgitate from fed adult females displayed enzyme activity consistent with the proteolytic enzymes detected in crop gut fluids. Enzymes in regurgitate were not derived from food sources based on assays of bovine liver samples. These latter observations suggest that adult flies release fluids from foregut when encountering dry foods, potentially as a means to initiate extra-oral digestion. Copyright © 2014 Elsevier Ltd. All rights reserved.

Malformations and abnormalities of the petrous portion of the temporal bone

International Nuclear Information System (INIS)

Reith, W.; Yilmaz, U.; Heumueller, I.

2014-01-01

High-resolution computed tomography (HRCT) is the procedure of choice in the diagnostics of abnormalities of the middle and inner ear. It allows a detailed presentation of anatomical features and achieves the prerequisites for selection of the various therapeutic options. The highly diverse abnormalities can be described using detailed imaging analyses. Malformations with an abnormally developed modiolus are assumed to be early embryological defects, such as the classical Mondini dysplasia. The essential therapeutic option for middle ear deformities is still a cochlear implant. The domain of magnetic resonance imaging (MRI) is not only in the analysis of the cochlear nerve and for exclusion of fibrosis or ossification of the labyrinth but is also able to visualize details of isolated malformations, such as an extended vestibular aqueduct or subtle alterations to the vestibule or can visualize them better in comparison to CT. Radiological diagnostics are used not only for classification but also to recognize typical clinical problem situations and play a key role in the diagnostics of hearing disorders and selection of the optimal therapeutic procedure. (orig.) [de

Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana.

Directory of Open Access Journals (Sweden)

Gbolahan Ajibola

Full Text Available A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART. While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted.We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study. Infants were examined at birth, and at least every 3 months through 18 months of age. Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. Structural malformations with surgical, medical or cosmetic importance were classified as major malformations. We present a descriptive analysis of identified malformations.Between 2011 and 2014, 2,933 HIV-infected women who enrolled in the Mpepu study delivered 2,971 live-born infants. Study staff conducted 2,944 (99% newborn exams. One thousand eighty-eight (38% women were taking ART at conception; 1,147 (40% started ART during pregnancy; 442 (15% received zidovudine monotherapy; and 223 (7% received no antiretroviral during pregnancy. Of 33 reported anomalies, 25 (76% met congenital malformations criteria, 10 (30% were classified as major malformations, 4 (40% of which were identified after the birth exam.Our results highlight the importance of staff training on identification of congenital malformations, programmatic monitoring beyond the birth examination and the value of geneticist involvement in the malformations classification process in resource-limited settings. These elements will be important to fully define antiretroviral drug safety in pregnancy.Surveillance systems for monitoring the safety of antiretroviral use during pregnancy among HIV-infected women in resource-limited setting are lacking. The World Health Organization's published programmatic recommendations for such

Congenital malformations and damage in early infancy of the central nervous system

International Nuclear Information System (INIS)

Jansen, O.; Stephani, U.

2007-01-01

Congenital malformations and cerebral damage in early infancy cause complex morphological and clinical changes. Modern imaging techniques, and especially NMR, have provided deeper knowledge of these diseases in the past few years. Based on the neuroradiological findings, the book presents a complete picture of congenital malformations of the central nervous systems and cerebral damage in early infancy; it describes the underlying pathomechanisms, clinical symptoms and therapies. Neurologists and neuropaediatricians are enabled to diagnose malformations correctly and to develop optimal therapy strategies in cooperation with other medical disciplines. Neuroradiologists and radiologists, on the other hand, will find a manual for correct interpretation and differential diagnosis of their findings and a guide for interpreting the findings and deciding further therapeutic or diagnostic interventions. (orig.)

SAGES Foregut Surgery Masters Program: a surgeon's social media resource for collaboration, education, and professional development.

Science.gov (United States)

Jackson, Hope T; Young, Monica T; Rodriguez, H Alejandro; Wright, Andrew S

2018-06-01

Facebook is a popular online social networking platform increasingly used for professional collaboration. Literature regarding use of Facebook for surgeon professional development and education is limited. The Society of American Gastrointestinal and Endoscopic Surgeons (SAGES) has established a Facebook group dedicated to discussion of surgery of the esophagus, stomach, and small intestine-the "SAGES Foregut Surgery Masters Program." The aim of this study is to examine how this forum is used for professional development, education, and quality improvement. Member and post statistics were obtained from https://grytics.com , a Facebook group analytics service. All posts added to the Foregut forum since its creation in April 2015 through December 2016 were reviewed and categorized for content and topic. Posts were reviewed for potential identifiable protected health information. As of December 2016, there were 649 total members in the group. There have been a total of 411 posts and 4116 comments with a median of 10.1 comments/post (range 0-72). Posts were categorized as operative technique (64%), patient management (52%), continuing education (10%), networking (10%), or other (6%). Video and/or photos were included in 53% of posts with 4% of posts depicting radiologic studies and 13% with intraoperative photos or videos. An additional 40 posts included links to other pages, such as YouTube, journal articles, or the SAGES website. One post (0.2%) contained identifiable protected health information and was deleted once recognized by the moderators of the group. Social media is a unique, real-time platform where surgeons can learn, discuss, and collaborate towards the goal of optimal treatment of surgical disease. Active online surgical communities such as the SAGES Foregut Surgery Masters Program have the potential to enhance communication between surgeons and are a potential innovative adjunct to traditional methods of continuing surgical education. Surgical societies

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

Science.gov (United States)

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Radiation dermatitis after spinal arteriovenous malformation embolization: case report

International Nuclear Information System (INIS)

Carstens, G.J.; Horowitz, M.B.; Purdy, P.D.; Pandya, A.G.

1996-01-01

Few cases of radiation injury related to lengthy interventional neuroradiologic procedures have been reported, although concern has been heightened, as evidenced by a 1994 FDA Public Health Advisory. We report a case of radiation-induced dermatitis in a patient undergoing multiple diagnostic and embolization procedures for treatment of a spinal arteriovenous malformation. (orig.). With 2 figs

Cerebral palsy and congenital malformations

DEFF Research Database (Denmark)

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

2007-01-01

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

Sagittal reconstruction computed tomography in metrizamide cisternography. Useful diagnostic procedure for malformations in craniovertebral junction and posterior fossa

Energy Technology Data Exchange (ETDEWEB)

Mochizuki, H.; Okita, N.; Fujii, T.; Yoshioka, M.; Saito, H. (Tohoku Univ., Sendai (Japan). School of Medicine)

1982-08-01

We studied the sagittal reconstruction technique in computed tomography with metrizamide. Ten ml of metrizamide, 170 mg iodine/ml in concentration, were injected by lumbar puncture. After diffusion of the injected metrizamide, axial computed tomograms were taken by thin slice width (5 mm) with overlapped technique. Then electrical sagittal reconstruction was carried out by optioned software. Injection of metrizamide, non-ionic water soluble contrast media, made clear contrasts among bone, brain parenchyma and cerebrospinal fluid with computed tomography. Sagittal reconstruction technique could reveal more precise details and accurate anatomical relations than ordinary axial computed tomography. This technique was applied on 3 cases (Arnold-Chiari malformation, large cisterna magna and partial agenesis cerebellar vermis), which demonstrated a useful diagnostic procedure for abnormalities of craniovertebral junction and posterior fossa. The adverse reactions of metrizamide were negligible in our series.

Supratentorial CNS malformations

International Nuclear Information System (INIS)

Zlatareva, D.

2012-01-01

Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

Diagnostic radiation risks

Energy Technology Data Exchange (ETDEWEB)

Sherwood, T [Addenbrooke' s Hospital, Cambridge (UK)

1980-04-01

A brief discussion on diagnostic radiation risks is given. First some fundamental facts on the concepts and units of radiation measurement are clarified. Medical diagnostic radiation doses are also compared to the radiation doses received annually by man from natural background radiation. The controversy concerning the '10-day rule' in X-raying women of child-bearing age is discussed; it would appear that the risk of malformation in an unborn child due to X-radiation is very much less than the natural level of risk of malformation. The differences in the radiographic techniques and thus the different X-ray doses needed to make adequate X-ray images of different parts of the body are considered. The radiation burden of nuclear medicine investigations compared to X-ray procedures is also discussed. Finally, the problems of using volunteers in radiation research are aired.

Editorial brain malformation surveillance in the Zika era

Science.gov (United States)

Trevathan, Edwin

2016-01-01

The current surveillance systems for congenital microcephaly are necessary to monitor the impact of Zika virus (ZIKV) on the developing human brain, as well as the ZIKV prevention efforts. However, these congenital microcephaly surveillance systems are insufficient. Abnormalities of neuronal differentiation, development and migration may occur among infants with normal head circumference who have intrauterine exposure to ZIKV. Therefore, surveillance for congenital microcephaly does not ascertain many of the infants seriously impacted by congenital ZIKV infection. Furthermore, many infants with normal head circumference and with malformations of the brain cortex do not have clinical manifestations of their congenital malformations until several months to many years after birth, when they present with clinical manifestations such as seizures/epilepsy, developmental delays with or without developmental regression, and/or motor impairment. In response to the ZIKV threat, public health surveillance systems must be enhanced to ascertain a wide variety of congenital brain malformations, as well as their clinical manifestations that lead to diagnostic brain imaging. Birth Defects Research (Part A) 106:869–874, 2016. © 2016 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc. PMID:27891785

[Management of occult malformations at the lateral skull base].

Science.gov (United States)

Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

2005-12-01

Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

Colonic arteriovenous malformation in a child misinterpreted as an idiopathic colonic varicosis on angiography: remarks on current classification of childhood intestinal vascular malformations

International Nuclear Information System (INIS)

Defreyne, L.; Meersschaut, V.; Damme, S. van; Praet, M.; Berrevoet, F.; Robberecht, E.

2003-01-01

A case of lower gastrointestinal hemorrhage in a child caused by an arteriovenous malformation (AVM) of the colon is presented. On diagnostic angiography, the lesion was misinterpretated as an idiopathic colonic varicosis because none of the characteristic features of an AVM were present. The role of angiography and shortcomings in nomenclature and classification of intestinal vascular anomalies in childhood are discussed. (orig.)

Assessment of Double Outlet Right Ventricle Associated with Multiple Malformations in Pediatric Patients Using Retrospective ECG-Gated Dual-Source Computed Tomography.

Directory of Open Access Journals (Sweden)

Ke Shi

Full Text Available To evaluate the feasibility and diagnostic accuracy of retrospective electrocardiographically (ECG-gated dual-source computed tomography (DSCT for the assessment of double outlet right ventricle (DORV and associated multiple malformations in pediatric patients.Forty-seven patients <10 years of age with DORV underwent retrospective ECG-gated DSCT. The location of the ventricular septal defect (VSD, alignment of the two great arteries, and associated malformations were assessed. The feasibility of retrospective ECG-gated DSCT in pediatric patients was assessed, the image quality of DSCT and the agreement of the diagnosis of associated malformations between DSCT and transthoracic echocardiography (TTE were evaluated, the diagnostic accuracies of DSCT and TTE were referred to surgical results, and the effective doses were calculated.Apart from DORV, 109 associated malformations were confirmed postoperatively. There was excellent agreement (κ = 0.90 for the diagnosis of associated malformations between DSCT and TTE. However, DSCT was superior to TTE in demonstrating paracardiac anomalies (sensitivity, coronary artery anomalies: 100% vs. 80.00%, anomalies of great vessels: 100% vs. 88.57%, separate thoracic and abdominal anomalies: 100% vs. 76.92%, respectively. Combined with TTE, DSCT can achieve excellent diagnostic performance in intracardiac anomalies (sensitivity, 91.30% vs. 100%. The mean image quality score was 3.70 ± 0.46 (κ = 0.76. The estimated mean effective dose was < 1 mSv (0.88 ± 0.34 mSv.Retrospective ECG-gated DSCT is a better diagnostic tool than TTE for pediatric patients with complex congenital heart disease such as DORV. Combined with TTE, it may reduce or even obviate the use of invasive cardiac catheterization, and thus expose the patients to a much lower radiation dose.

Giant congenital malformation of the perirectal plexus in computed tomography imaging – case report

International Nuclear Information System (INIS)

Kędzierski, Bartłomiej; Nowak, Grzegorz; Kuśmierska, Małgorzata; Jaźwiec, Przemysław; Szuba, Andrzej

2013-01-01

Congenital arteriovenous malformation (AVM) in the pelvic area is uncommon in males. The described case is of a giant lesion of this type that caused recurrent hemorrhaging in the lower part of the gastrointestinal tract. Preliminary diagnosis of vascular pathology was made on the basis of an endoscopic examination that revealed numerous pulsating protuberances of the rectal wall, in which blood flow was identified by means of transrectal ultrasonography. Complementing the diagnostics with a CT revealed a considerable extent of malformation, as well as its morphology and anatomical relations with the surrounding tissues. Following a two-year follow-up period, the malformation did not progress or demonstrate any intensification of clinical symptoms, therefore the patient continues to undergo conservative treatment

Chiari Malformation

Science.gov (United States)

... the back of the skull, just above the spine. When a child has a Chiari malformation, the space for the ... a portion of the top vertebra in the spine to reduce pressure in that area. If a child with a Chiari malformation also has hydrocephalus, the ...

Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.

Science.gov (United States)

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

2014-07-01

In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Diagnosis and differential diagnosis of cerebro-vascular malformations by CT

International Nuclear Information System (INIS)

Schumacher, M.; Stoeter, P.; Voigt, K.

1980-01-01

In 38 patients, the diagnosis of a cerebrovascular malformation (17 arteriovenous angiomas including one low-flow- and two venous angiomas; 10 aneurysms; 4 arteriovenous fistulae of the cavernous sinus, the tentorium and one of the Great Vein of Galen; 6 megadolical basilar arteries) was initially made by computertomographic (CT) examination, including contrast enhancement. The characteristic and pathognomonic CT findings are described and compared with those of cerebral angiography also done in these cases. The problems of differential diagnosis and the reasons for a false CT diagnosis in 5 other patients with a cerebro-vascular malformation are investigated; and the diagnostic value of cerebral angiography and CT is discussed and their complementary functions are being pointed out. (orig.) 891 MG/orig. 892 MKO [de

The diagnostic value of multi-slice CT on the congenital malformation of coronary sinus

International Nuclear Information System (INIS)

Li Wei; Ma Xiaojing; Sun Qingjun

2012-01-01

Objective: To investigate the application value of multi-slice spiral CT on the congenital malformation of coronary sinus. Methods: MSCT finding of 98 patients with coronary sinus malformation confirmed by surgery were retrospectively analyzed,and the cases were divided into four categories based on the Mantini theory and comparison was made between the diagnosis from ultrasound and CT. A 2 × 2 table for Chi-square test was also used for statistics analysis. Results: Among 98 patients,there were 72 patients with persistent left superior vena cava reflowed to right atria through coronary sinus, with 48 patients diagnosed by ultrasound and 72 patients by MSCT; there were 13 patients with anomalous pulmonary venous connection to coronary sinus, with 12 patients diagnosed by ultrasound and 13 patients by MSCT diagnosis; there were 10 patients with unroofed coronary sinus syndrome, with 6 patients diagnosed by ultrasound and 8 patients by MSCT, there were 2 patients with coronary sinus atresia, all diagnosed by MSCT; there were 1 patient with coronary sinus anomaly reflow to left arita. The significant difference between 2 modalities (χ 2 =22.7, P<0.01) shows that CT is superior to ultrasound. Conclusion: MSCT is much more better than ultrasound in the diagnosis of malformation of coronary sinus and it can provide reliable diagnosis prior to surgery or interventional therapy. (authors)

Imaging diagnosis of venous malformation in head and neck

International Nuclear Information System (INIS)

Ha, Doo Hoe; Kim, Dong Ik; Suh, Jung Ho; Jung, Tae Sub

1992-01-01

The venous malformation in head and neck is a development vascular disease which arises from the arrest in the certain stage of vascular embryogenesis. However, the lesion extends along the fascia and has a tendency to recur after incomplete therapy. Retrospectively, the authors reviewed radiologic studies of 20 patients diagnosed as venous malformation during the last 5 years. The diagnosis was verified by histopathology (5 patients) and direct puncture angiography (15 patients). The radiologic studies included. CT with intravenous contrast injection (20 patients), RI angiography with 99mTc-pyrophosphate (6 patients), and direct puncture angiography (15 patients). Multiplicity of venous malformation was noted in 9 patients. On CT scan, the lesions had lobulated irregular shape, with heterogeneous appearance, showed delayed enhancing characteristics, and had the phleboliths (21 lesions). The venous malformations were located at the masticator space (including masseter muscle) (n = 12), retrobulbar space (n 6), submandibular space (n = 4), paravertebral space (n = 3) and so on. In two cases, the lesions were very extensive involving entire neck and parapharynx. On RI angiography using 99m Tc-pyrophosphate, all of the lesions showed persistent and delayed uptake. With direct puncture angiography the lesions could be classified as acinar pattern (n = 17) and mixed pattern (acinar and saccular) (n = 2). Venous connections were noted in 10 lesions. In conclusion, if a soft tissue mass on head and neck shows a heterogeneous attenuation density with or without calcified phlebolith on CT scan, RI angiography is recommended as a next diagnostic study. If it shows delayed persistent uptake, venous malformation can be suspected. Finally direct puncture angiography can verify the nature and extent of the lesion

Shedding light on the microbial community of the macropod foregut using 454-amplicon pyrosequencing.

Directory of Open Access Journals (Sweden)

Lisa-Maree Gulino

Full Text Available Twenty macropods from five locations in Queensland, Australia, grazing on a variety of native pastures were surveyed and the bacterial community of the foregut was examined using 454-amplicon pyrosequencing. Specifically, the V3/V4 region of 16S rRNA gene was examined. A total of 5040 OTUs were identified in the data set (post filtering. Thirty-two OTUs were identified as 'shared' OTUS (i.e. present in all samples belonging to either Firmicutes or Bacteroidetes (Clostridiales/Bacteroidales. These phyla predominated the general microbial community in all macropods. Genera represented within the shared OTUs included: unclassified Ruminococcaceae, unclassified Lachnospiraceae, unclassified Clostridiales, Peptococcus sp. Coprococcus spp., Streptococcus spp., Blautia sp., Ruminoccocus sp., Eubacterium sp., Dorea sp., Oscillospira sp. and Butyrivibrio sp. The composition of the bacterial community of the foregut samples of each the host species (Macropus rufus, Macropus giganteus and Macropus robustus was significantly different allowing differentiation between the host species based on alpha and beta diversity measures. Specifically, eleven dominant OTUs that separated the three host species were identified and classified as: unclassified Ruminococcaceae, unclassified Bacteroidales, Prevotella spp. and a Syntrophococcus sucromutans. Putative reductive acetogens and fibrolytic bacteria were also identified in samples. Future work will investigate the presence and role of fibrolytics and acetogens in these ecosystems. Ideally, the isolation and characterization of these organisms will be used for enhanced feed efficiency in cattle, methane mitigation and potentially for other industries such as the biofuel industry.

Shedding light on the microbial community of the macropod foregut using 454-amplicon pyrosequencing.

Science.gov (United States)

Gulino, Lisa-Maree; Ouwerkerk, Diane; Kang, Alicia Y H; Maguire, Anita J; Kienzle, Marco; Klieve, Athol V

2013-01-01

Twenty macropods from five locations in Queensland, Australia, grazing on a variety of native pastures were surveyed and the bacterial community of the foregut was examined using 454-amplicon pyrosequencing. Specifically, the V3/V4 region of 16S rRNA gene was examined. A total of 5040 OTUs were identified in the data set (post filtering). Thirty-two OTUs were identified as 'shared' OTUS (i.e. present in all samples) belonging to either Firmicutes or Bacteroidetes (Clostridiales/Bacteroidales). These phyla predominated the general microbial community in all macropods. Genera represented within the shared OTUs included: unclassified Ruminococcaceae, unclassified Lachnospiraceae, unclassified Clostridiales, Peptococcus sp. Coprococcus spp., Streptococcus spp., Blautia sp., Ruminoccocus sp., Eubacterium sp., Dorea sp., Oscillospira sp. and Butyrivibrio sp. The composition of the bacterial community of the foregut samples of each the host species (Macropus rufus, Macropus giganteus and Macropus robustus) was significantly different allowing differentiation between the host species based on alpha and beta diversity measures. Specifically, eleven dominant OTUs that separated the three host species were identified and classified as: unclassified Ruminococcaceae, unclassified Bacteroidales, Prevotella spp. and a Syntrophococcus sucromutans. Putative reductive acetogens and fibrolytic bacteria were also identified in samples. Future work will investigate the presence and role of fibrolytics and acetogens in these ecosystems. Ideally, the isolation and characterization of these organisms will be used for enhanced feed efficiency in cattle, methane mitigation and potentially for other industries such as the biofuel industry.

Radiosurgery for brain arteriovenous malformations

International Nuclear Information System (INIS)

Latorzeff, I.; Schlienger, M.; Sabatier, J.; Borius, P.Y.; Lotterie, J.A.; Bourdin, S.; Menegalli, D.; Cognard, C.; Januel, A.C.; Desal, H.; Debono, B.; Blond, S.

2012-01-01

Radiosurgery as treatment for arteriovenous malformations has shown a good efficacy in reducing intracranial bleeding due to rupture. The choice of therapeutic modalities is based on evolutive risk and arteriovenous malformations volume, patient profile and risks stratification following therapeutic techniques (microsurgery, radiosurgery, embolization). Nidus size, arteriovenous malformations anatomical localization, prior embolization or bleeding, distributed dose are predictive factors for radio-surgery's good results and tolerance. This review article will highlight arteriovenous malformations radiosurgery indications and discuss recent irradiation alternatives for large arteriovenous malformation volumes. (authors)

Whitefly feeding behavior and retention of a foregut-borne crinivirus exposed to artificial diets with different pH values.

Science.gov (United States)

Zhou, Jaclyn S; Chen, Angel Y S; Drucker, Martin; Lopez, Nicole H; Carpenter, Alyssa; Ng, James C K

2017-12-01

Transmission of plant viruses by phytophagous hemipteran insects encompasses complex interactions underlying a continuum of processes involved in virus acquisition, retention and inoculation combined with vector feeding behavior. Here, we investigated the effects of dietary pH on whitefly (Bemisia tabaci) feeding behavior and release of Lettuce infectious yellows virus (LIYV) virions retained in the vector's foregut. Electrical penetration graph analysis revealed that variables associated with whitefly probing and ingestion did not differ significantly in pH (4, 7.4, and 9) adjusted artificial diets. To investigate virus retention and release, whiteflies allowed to acquire LIYV virions in a pH 7.4 artificial diet were fed pH 4, 7.4, or 9 virion-free artificial (clearing) diets. Immunofluorescent localization analyses indicated that virions remained bound to the foreguts of approximately 20%-24% of vectors after they fed on each of the 3 pH-adjusted clearing diets. When RNA preparations from the clearing diets were analyzed by reverse transcription (RT) nested-PCR and, in some cases, real-time qPCR, successful amplification of LIYV-specific sequence was infrequent but consistently repeatable for the pH 7.4 diet but never observed for the pH 4 and 9 diets, suggesting a weak pH-dependent effect for virion release. Viruliferous vectors that fed on each of the 3 pH-adjusted clearing diets transmitted LIYV to virus-free plants. These results suggest that changes in pH values alone in artificial diet do not result in observable changes in whitefly feeding behaviors, an observation that marks a first in the feeding of artificial diet by whitefly vectors; and that there is a potential causal and contingent relationship between the pH in artificial diet and the release/inoculation of foregut bound virions. © 2017 Institute of Zoology, Chinese Academy of Sciences.

Interpretation of plain film radiology in infants and children with cardiac and vascular malformations. Pt. 2

International Nuclear Information System (INIS)

Rautenburg, H.W.

1987-01-01

This second part shows that its interpreted correctly diagnostic plain film radiology may contribute important information to an often complicated differential diagnosis of complex angiocardiopthies exemplified here by various subforms and types of pulmonary and tricuspid atresias. Diagnostic plainfilm radiology, however, is just one part of total preliminary cardiological diagnostics. In many cases of congenital heart and vessel malformations, it is of great diagnostic value in the practical medical environment and does not compete with echo cardiography especially in easy diagnoses like that of lung perfusion. (orig.) [de

Validity of congenital malformation diagnostic codes recorded in Québec's administrative databases.

Science.gov (United States)

Blais, Lucie; Bérard, Anick; Kettani, Fatima-Zohra; Forget, Amélie

2013-08-01

To assess the validity of the diagnostic codes of congenital malformations (CMs) recorded in two of Québec's administrative databases. A cohort of pregnancies and infants born to asthmatic and non-asthmatic women in 1990-2002 was reconstructed using Québec's administrative databases. From this cohort, we selected 269 infants with a CM and 144 without CM born to asthmatic women, together with 284 and 138 infants, respectively, born to non-asthmatic women. The diagnoses of CMs recorded in the databases were compared with the diagnoses written by the physicians in the infants' medical charts. The positive predictive values (PPV) and negative predictive values (NPV) for all, major, and several specific CMs were estimated. The PPVs for all CMs and major CMs were 82.2% (95% confidence interval (CI): 78.5%-85.9%) and 78.1% (74.1%-82.1%), respectively, in the asthmatic group and were 79.2% (75.4%-83.1%) and 69.0% (64.6%-73.4%), respectively, in the non-asthmatic group. PPVs >80% were found for several specific CMs, including cardiac, cleft, and limb CMs in both groups. The NPV for any CM was 88.2% (95% CI: 85.1%-91.3%) in the asthmatic group and 94.2% (92.2%-96.2%) in the non-asthmatic group. Québec's administrative databases are valid tools for epidemiological research of CMs. The results were similar between infants born to women with and without asthma. Copyright © 2013 John Wiley & Sons, Ltd.

The incidence of Arnold–Chiari malformation in neurological practice

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E. A. Kantimirova

2015-01-01

Full Text Available Arnold-Chiari malformation (ACM is a group of congenital hindbrain malformations affecting the structural relationships between the cerebellum, brain stem, top cervical spinal cord, and bones of the skull base. In clinical practice, ACM types 0 and 1 are more common and types 2, 3, and 4 belong to rare severe (often fatal congenital malformations.Objective: to study gender differences in the incidence of ACM types 0 and 1 in outpatient neurological practice.Patients and methods. A total 2039 case records of outpatients who had visited a neurologist of the Krasnoyarsk University clinic in 2008–2014 were analyzed. Neurological and neuroradiological (1.5 Tesla brain magnetic resonance imaging, phase-contrast spinal cerebral fluid flow imaging diagnostic techniques were used. 3.4% (70/2039 of cases were randomized according to the criteria of inclusion and exception. An entire sample included 70 ACM patients (median age, 25 [17; 34] years (30 (42.8–7.1% men and 40 (57.2–7.1% women.Results. There was an increase in the incidence of ACM type 1 in the women than in the men. Conclusion. It is necessary to develop a new strategy for the prophylactic medical examination of patients with ACM to improve primary and specialized outpatient health care.

Congenital spinal malformations

International Nuclear Information System (INIS)

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

2001-01-01

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

Pediatric central nervous system vascular malformations

Energy Technology Data Exchange (ETDEWEB)

Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

2015-09-15

Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

Pediatric central nervous system vascular malformations

International Nuclear Information System (INIS)

Burch, Ezra A.; Orbach, Darren B.

2015-01-01

Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

Fetal magnetic resonance imaging of thoracic and abdominal malformations; Fetale Magnetresonanztomographie thorakaler und abdomineller Malformationen

Energy Technology Data Exchange (ETDEWEB)

Woitek, R.; Asenbaum, U.; Furtner, J.; Prayer, D. [Medizinische Universitaet Wien, Abteilung fuer Neuroradiologie und Muskuloskelettale Radiologie, Universitaetsklinik fuer Radiodiagnostik, Wien (Austria); Brugger, P.C. [Medizinische Universitaet Wien, Zentrum fuer Anatomie und Zellbiologie, Wien (Austria)

2013-02-15

Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.) [German] Diagnose und Differenzialdiagnose fetaler thorakaler und abdomineller Malformationen. Ultraschall, MRT. MRT zur weiteren Abklaerung und genaueren Differenzierung bei vielen im Ultraschall gestellten Verdachtsdiagnosen. Verbesserte anatomische Darstellung mittels MRT und Darstellung unterschiedlicher Gewebezusammensetzung mittels verschiedener MR-Sequenzen. Die fetale MRT ist bei der angegebenen Fragestellung in die klinische Routine eingegangen und liefert weiterhin die Basis fuer wissenschaftliche Untersuchungen in diesem Bereich. Die fetale MRT liefert beim Vorliegen thorakaler oder abdomineller Malformationen komplementaer zum Ultraschall wichtige Zusatzinformationen, um die diagnostische Genauigkeit zu erhoehen, die Prognoseabschaetzung zu verbessern und ggf. eine bessere chirurgische Planung zu ermoeglichen. (orig.)

Dandy-Walker Malformation

African Journals Online (AJOL)

rme

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

Nonfluoroscopic pressure colostography in the evaluation of genitourinary fistula of anorectal malformations: experience in a resource-poor environment

Energy Technology Data Exchange (ETDEWEB)

Abdulkadir, Adekunle Yisau; Adesiyun, Olusola Morohunfade [University of Ilorin, Department of Radiology, Teaching Hospital, Ilorin, Kwara State (Nigeria); Abdur-Rahman, Lukman Olajide [University of Ilorin, Paediatric Surgery Unit, Teaching Hospital, Ilorin, Kwara State (Nigeria)

2009-02-15

Radiological imaging is paramount for defining the genitourinary fistulae commonly associated with anorectal malformations prior to definitive surgery. The imaging options are resource-limited in many parts of the world. Nonfluoroscopic pressure colostography after colostomy is a cheap method for the evaluation of anorectal malformations. To describe our experience with nonfluoroscopic pressure colostography in the evaluation of anorectal malformations in boys. The study included 12 boys with anorectal malformation who had colostomy and nonfluoroscopic pressure-augmented colostography with water-soluble contrast medium between January 2006 and December 2007. Patient ages ranged from 2 days to 1 year. The types of genitourinary fistula were rectovesical (7.7%) and rectourethral (92.3%). Oblique radiographs were of diagnostic value in all patients. The types of anorectal malformations were high, intermediate and low in 75%, 8.3% and 16.7%, respectively. Short-segment urethral constriction was a common feature of rectourethral fistula (75%, n=9). Our experience has shown that genitourinary fistulae associated with anorectal malformations can be demonstrated reliably by nonfluoroscopic pressure colostography with two oblique radiographs, providing an option in resource-poor settings where fluoroscopic equipment is scarce. (orig.)

Surgical management of venous malformations.

Science.gov (United States)

Loose, D A

2007-01-01

Among vascular malformations, the predominantly venous malformations represent the majority of cases. They form a clinical entity and therefore need clear concepts concerning diagnosis and treatment. This paper presents an overview of contemporary classification as well as tactics and techniques of treatment. According to the Hamburg Classification, predominantly venous malformations are categorized into truncular and extratruncular forms, with truncular forms distinguished as obstructions and dilations, and extratruncular forms as limited or infiltrating. The tactics of treatment represent surgical and non-surgical methods or combined techniques. Surgical approaches utilize different tactics and techniques that are adopted based on the pathologic form and type of the malformation: (I) operation to reduce the haemodynamic activity of the malformation; (II) operation to eliminate the malformation; and (III) reconstructive operation. As for (I), a type of a tactic is the operation to derive the venous flow. In (II), the total or partial removal of the venous malformation is demonstrated subdivided into three different techniques. In this way, the infiltrating as well as the limited forms can be treated. An additional technique is dedicated to the treatment of a marginal vein. Approach (III) involves the treatment of venous aneurysms, where a variety of techniques have been successful. Long-term follow-up demonstrates positive results in 91% of the cases. Congenital predominantly venous malformations should be treated according to the principles developed during the past decades in vascular surgery, interventional treatment and multidisciplinary treatment. The days of predominantly conservative treatment should be relegated to the past. Special skills and experiences are necessary to carry out appropriate surgical strategy, and the required operative techniques should be dictated by the location and type of malformation and associated findings.

[Identification of risk factors for congenital malformations].

Science.gov (United States)

Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

Aortic arch malformations

Energy Technology Data Exchange (ETDEWEB)

Kellenberger, Christian J. [University Children' s Hospital, Department of Diagnostic Imaging, Zuerich (Switzerland)

2010-06-15

Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

Aortic arch malformations

International Nuclear Information System (INIS)

Kellenberger, Christian J.

2010-01-01

Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

A Fate Map of the Murine Pancreas Buds Reveals a Multipotent Ventral Foregut Organ Progenitor

Science.gov (United States)

Angelo, Jesse R.; Guerrero-Zayas, Mara-Isel; Tremblay, Kimberly D.

2012-01-01

The definitive endoderm is the embryonic germ layer that gives rise to the budding endodermal organs including the thyroid, lung, liver and pancreas as well as the remainder of the gut tube. DiI fate mapping and whole embryo culture were used to determine the endodermal origin of the 9.5 days post coitum (dpc) dorsal and ventral pancreas buds. Our results demonstrate that the progenitors of each bud occupy distinct endodermal territories. Dorsal bud progenitors are located in the medial endoderm overlying somites 2–4 between the 2 and 11 somite stage (SS). The endoderm forming the ventral pancreas bud is found in 2 distinct regions. One territory originates from the left and right lateral endoderm caudal to the anterior intestinal portal by the 6 SS and the second domain is derived from the ventral midline of the endoderm lip (VMEL). Unlike the laterally located ventral foregut progenitors, the VMEL population harbors a multipotent progenitor that contributes to the thyroid bud, the rostral cap of the liver bud, ventral midline of the liver bud and the midline of the ventral pancreas bud in a temporally restricted manner. This data suggests that the midline of the 9.5 dpc thyroid, liver and ventral pancreas buds originates from the same progenitor population, demonstrating a developmental link between all three ventral foregut buds. Taken together, these data define the location of the dorsal and ventral pancreas progenitors in the prespecified endodermal sheet and should lead to insights into the inductive events required for pancreas specification. PMID:22815796

MRI of the brain: malformations

International Nuclear Information System (INIS)

Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V.

1990-01-01

Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling [fr

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

Science.gov (United States)

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

2012-06-01

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.

A complex craniovertebral junction malformation in a patient with late onset glycogenosis 2

Directory of Open Access Journals (Sweden)

Mariasofia Cotelli

2014-01-01

Full Text Available Glycogenosis II (GSDII is an autosomal recessive lysosomal storage disorder resulting from deficiency of acid alpha-glucosidase and subsequent lysosomal accumulation of glycogen in skeletal, cardiac and smooth muscles. The late-onset form is characterized by wide variability of the phenotypical spectrum. Clinical findings may include muscle weakness, respiratory insufficiency, vascular abnormalities, low bone mineral density and higher risk of developing osteoporosis. Craniovertebral junction (CVJ malformations have never been described so far. We here report on a GSDII 43-year-old woman who harbored the mutations IVS1-13T>G and c.2237G>A in the acid alpha-glucosidase gene. She recurrently suffered from headache, neck pain and dizziness. Brain MRI and CT scan showed the presence of a very rare complex CVJ malformation composed of basilar invagination, basiocciput hypoplasia, partial C1 assimilation, C1 posterior arch aplasia and C1 lateral mass hypoplasia and offset. Although we cannot rule out their coincidental occurrence, the rarity of multiple CVJ malformations in the general population as well as the well-known GSDII multisystem involvement should suggest to study the CVJ in the diagnostic process of GSDII patients in order to assess the CVJ malformation frequency in GSDII population and verify a possible relationship between these two conditions.

Genetics Home Reference: Dandy-Walker malformation

Science.gov (United States)

... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

OpenAIRE

Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

A new classification for cochleovestibular malformations.

Science.gov (United States)

Sennaroglu, Levent; Saatci, Isil

2002-12-01

The report proposes a new classification system for inner ear malformations, based on radiological features of inner ear malformations reviewed in 23 patients. The investigation took the form of a retrospective review of computerized tomography findings relating to the temporal bone in 23 patients (13 male and 10 female patients) with inner ear malformations. The subjects were patients with profound bilateral sensorineural hearing loss who had all had high-resolution computed tomography (CT) with contiguous 1-mm-thick images obtained through the petrous bone in axial sections. The CT results were reviewed for malformations of bony otic capsule under the following subgroups: cochlear, vestibular, semicircular canal, internal auditory canal (IAC), and vestibular and cochlear aqueduct malformations. Cochlear malformations were classified as Michel deformity, common cavity deformity, cochlear aplasia, hypoplastic cochlea, incomplete partition types I (IP-I) and II (IP-II) (Mondini deformity). Incomplete partition type I (cystic cochleovestibular malformation) is defined as a malformation in which the cochlea lacks the entire modiolus and cribriform area, resulting in a cystic appearance, and there is an accompanying large cystic vestibule. In IP-II (the Mondini deformity), there is a cochlea consisting of 1.5 turns (in which the middle and apical turns coalesce to form a cystic apex) accompanied by a dilated vestibule and enlarged vestibular aqueduct. Four patients demonstrated anomalies involving only one inner ear component. All the remaining patients had diseases or conditions affecting more than one inner ear component. Eight ears had IP-I, and 10 patients had IP-II. Ears with IP-I had large cystic vestibules, whereas the amount of dilation was minimal in patients with IP-II. The majority of the semicircular canals (67%) were normal. Semicircular canal aplasia accompanied cases of Michel deformity, cochlear hypoplasia, and common cavity. In 14 ears, the IAC had a

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

Science.gov (United States)

van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

2012-02-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight

Congenital heart defects and extracardiac malformations.

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Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Investigation of the microbial metabolism of carbon dioxide and hydrogen in the kangaroo foregut by stable isotope probing.

Science.gov (United States)

Godwin, Scott; Kang, Alicia; Gulino, Lisa-Maree; Manefield, Mike; Gutierrez-Zamora, Maria-Luisa; Kienzle, Marco; Ouwerkerk, Diane; Dawson, Kerri; Klieve, Athol V

2014-09-01

Kangaroos ferment forage material in an enlarged forestomach analogous to the rumen, but in contrast to ruminants, they produce little or no methane. The objective of this study was to identify the dominant organisms and pathways involved in hydrogenotrophy in the kangaroo forestomach, with the broader aim of understanding how these processes are able to predominate over methanogenesis. Stable isotope analysis of fermentation end products and RNA stable isotope probing (RNA-SIP) were used to investigate the organisms and biochemical pathways involved in the metabolism of hydrogen and carbon dioxide in the kangaroo forestomach. Our results clearly demonstrate that the activity of bacterial reductive acetogens is a key factor in the reduced methane output of kangaroos. In in vitro fermentations, the microbial community of the kangaroo foregut produced very little methane, but produced a significantly greater proportion of acetate derived from carbon dioxide than the microbial community of the bovine rumen. A bacterial operational taxonomic unit closely related to the known reductive acetogen Blautia coccoides was found to be associated with carbon dioxide and hydrogen metabolism in the kangaroo foregut. Other bacterial taxa including members of the genera Prevotella, Oscillibacter and Streptococcus that have not previously been reported as containing hydrogenotrophic organisms were also significantly associated with metabolism of hydrogen and carbon dioxide in the kangaroo forestomach.

Activity patterns in malformed fetuses.

Science.gov (United States)

Rayburn, W F; Barr, M

1982-04-15

Knowledge of a malformed fetus before the onset of labor would assist the physician in preparing the expectant parents, managing the timing and method of delivery, and preparing for the immediate care of a salvageable infant. This 3-year prospective investigation compared the activity patterns of fetuses who were later found to have major malformation with those of fetuses who had no apparent defects. Fetal motion over prolonged periods was determined by daily charting of fetal movement by the mother. Although not a reliable predictor for all malformations, evidence of fetal inactivity was found to be more common (p less than 0.0001) among fetuses with anomalies (16 of 58 cases, 28%) than among those with no defects (39 of 1,098 cases, 4%). All malformations associated with fetal inactivity were strongly suspected ultrasonographically and included hydrocephalus, gastroschisis, nonimmune hydrops, bilateral renal agenesis, and bilateral dislocation of the hips. Documentation of fetal inactivity is helpful in recognizing certain major malformations and constitutes grounds for more detailed study by ultrasonography.

Sella turcica morphology and the pituitary gland-a new contribution to craniofacial diagnostics based on histology and neuroradiology.

Science.gov (United States)

Kjær, Inger

2015-02-01

The present review summarizes two decades of published and unpublished studies on normal and pathological development of sella turcica and pituitary gland in humans. The pathological conditions are studied in known genotype deviations, syndromes, and other malformations. The studies include histological analyses of human prenatal material and profile radiographic analyses of human postnatal material, supplemented in a few cases with neuroradiology. Prenatal and postnatal results are compared. Similarities between prenatal and postnatal deviations in sella turcica morphology were demonstrated. Malformations in the pituitary gland were observed in several cases. For diagnostic purposes, the review distinguishes between deviations in the anterior wall and in the posterior wall of the sella turcica. Deviations in the anterior wall seem to be associated with deviations specifically in the frontonasal developmental field, while deviations in the posterior wall are often connected with malformations in the posterior structures, e.g. the cerebellum. In normal cases, minor variations in morphology are observed. In each pathological case, a specific malformation pattern was observed in sella turcica morphology, varying from mild to severe phenotype. The malformation in the sella turcica/pituitary gland can be associated with a malformation within a developmental field that forms the craniofacial region (frontonasal, maxillary, palatal, and mandibular fields), sometimes also involving the brain stem, thymus, thyroid, and heart (velocardiofacial syndrome). Pathological sella turcica morphology can also be associated with malformations in the cerebellum and larynx (Cri-du-Chat syndrome). This review demonstrates the value of combining profile radiographic diagnostics with neuroradiological diagnostics in cases with malformed sella turcicae. © The Author 2012. Published by Oxford University Press on behalf of the European Orthodontic Society. All rights reserved. For

Congenital branchial apparatus malformation in a Haflinger colt.

Science.gov (United States)

David, Florent; Savard, Claudine; Drolet, Richard; Alexander, Kate; Pang, Daniel S J; Laverty, Sheila

2008-01-01

To report the diagnosis and treatment of a branchial apparatus anomaly (BAA) associated with a mandibular malformation in a foal. Clinical report. Haflinger foal. A 6-day-old foal had a fluctuating cystic mass in the pharyngeal (throatlatch) region, which changed in appearance after ingestion of milk. Upper airway endoscopy and diagnostic imaging (ultrasonography, radiography, computed tomography) permitted identification of the anatomic location of a communicating tract between the lumen of the cystic mass and the pharynx. The mass was surgically removed and communication with the pharynx ligated. Histologic appearance of this mass was consistent with a branchial cyst or sinus. The mandibular malformation was managed conservatively. Surgical resection of a third branchial sinus resulted in an excellent functional and cosmetic outcome. There was no evidence of any mandibular deformity 2 years later. BAA may induce secondary mandibular deformation in utero and may cause respiratory compromise postpartum. Careful surgical dissection and removal of BAA resulted in an excellent outcome. BAAs should be included in the differential diagnosis of a throatlatch region mass in equine neonates. Complete surgical excision is recommended and full recovery of any associated mandibular deformity may be anticipated without additional treatment in very young patients.

Characteristics and treatment of cavernous malformations

International Nuclear Information System (INIS)

Takagi, Kenji; Ishida, Mitsuaki; Okabe, Hidetoshi; Nozaki, Kazuhiko

2013-01-01

Cavernous malformations are clusters of dilated sinusoidal channels with thin walls devoid of elastin and smooth muscle. They have no intervening brain tissue. They occur both in sporadic and familial forms. The genes responsible for cavernous malformations have been identified. Recent reports show that mutations of these responsible genes are involved not only in familial but also in sporadic forms. Germline and somatic mutations may occur before cavernous malformations develop (two-hit mechanism). Two patterns, with mulberry-like and hematoma-like appearances, are seen intraoperatively, and from histological findings, mulberry-like appearance may change into hematoma-like one by intralesional hemorrhage. Cavernous malformation treatments include open surgery and radiosurgery. Open surgery is usually chosen for the treatment of symptomatic hemorrhagic cavernous malformations because post-radiosurgical annual bleeding risks at the early phase seem to be higher than those of open surgery. If open surgery has a high risk because of lesion location, radiosurgery becomes an effective alternative treatment. Brainstem cavernous malformations have high annual bleeding and re-bleeding incidence, so if the lesion is accessible with low risk, open surgery is recommended. (author)

Headache in children with Chiari I malformation.

Science.gov (United States)

Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

2014-05-01

Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe.

Science.gov (United States)

Garne, Ester; Loane, Maria; de Vigan, Catherine; Scarano, Gioacchino; de Walle, Hermien; Gillerot, Yves; Stoll, Claude; Addor, Marie-Claude; Stone, David; Gener, Blanca; Feijoo, Maria; Mosquera-Tenreiro, Carmen; Gatt, Miriam; Queisser-Luft, Annette; Baena, Neus; Dolk, Helen

2004-11-01

To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Analysis of data from population-based registries of CM. 25 400 cases of CM recorded by 14 EUROCAT registries covering a total population of 1,013,352 births 1995-99. US were performed in 91% of cases, and positively detected CM in 35% of cases. AC was performed in 24% of the cases and CVS in 3% of cases. Thirty-eight percent of invasive tests gave positive results. Fifty-two percent of cases with maternal age > or = 35 years had an invasive test performed compared to 20% of cases with younger mothers. Considerable variation was found between registries in the uptake rate of invasive tests in cases with older maternal age and on the use of invasive tests with only four regions employing CVS techniques in at least a third of the cases having invasive tests. For chromosomal anomalies US gave positive results in 46% of cases with maternal age or = 35 years with US performed. Prenatal US was performed in 91% of all pregnancies with CM but the test was only positive in a third of the cases. There was large regional variation in the uptake rate of invasive tests with maternal age of 35 years or more. For every CVS carried out there were nine AC tests. US is an important tool in the prenatal diagnosis of chromosomal anomalies in Europe. Copyright 2004 John Wiley & Sons, Ltd.

Cerebral malformations without antenatal diagnosis

Energy Technology Data Exchange (ETDEWEB)

Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

2010-06-15

Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

Photographic paper X-ray procedure - a simple technique for the visualisation of osseous norm variations and malformations

International Nuclear Information System (INIS)

Markert, K.; Wirth, I.; Reinhold-Richter, L.

1983-01-01

On the basis of osseous norm variations and malformations, a simple X-ray procedure by means of photographic paper which can be applied in every institute of pathology is demonstrated. The quality of the photographs permits the assessment of skeletal changes which are of diagnostic importance. (author)

High resolution MR for evaluation of lower urogenital tract malformations in infants and children: Feasibility and preliminary experiences

International Nuclear Information System (INIS)

Ehammer, T.; Riccabona, M.; Maier, E.

2011-01-01

Introduction: This retrospective study aimed to assess the value of supplementing heavily T2-weighted, high resolution MR-imaging for detailed anatomic assessment in paediatric lower urogenital tract (UGT) malformations. Patients/methods: Sixteen patients (6 male and 10 female, median age = 1.8 years, range = 0-9 years) with suspected malformations of the lower UGT who were retrospectively identified from the PACS underwent a clinically indicated standard MR-urography study. In order to facilitate a better anatomic assessment of questioned specific lower UGT structures, an additional three-dimensional Constructive Interference in Steady State-sequence (3D-CISS) had been acquired in these patients. The final diagnosis was established by all imaging results and surgical or laprascopic findings. The findings from the CISS-sequence were compared to the results from standard MR-urography for complementary anatomic information and conspicuity. Results: Diagnostic 3D-CISS image quality was achieved in all patients. The 3D-CISS confirmed an ectopic ureteral insertion in six patients and reliably excluded ectopic insertion in 10 patients, whereas conventional MR-urography showed an ectopic insertion of the ureter in one case. In six patients with retrovesical complex formations (suspicious for an ectopic cystic renal bud or a cystic genital structure) the 3D-CISS showed increased conspicuity scores for image quality. Conclusion: The additional 3D-CISS-sequence increases the diagnostic yield in the pelvis in children with complex malformations of the lower UGT such as ectopic ureteral insertion or suspected cystic renal or genital malformations at only minimal additional time, compared to standard MR-urography.

High resolution MR for evaluation of lower urogenital tract malformations in infants and children: Feasibility and preliminary experiences

Energy Technology Data Exchange (ETDEWEB)

Ehammer, T., E-mail: ehammer@live.at [Department of Radiology, Medical University of Graz, Auenbruggerplatz, 8036 Graz (Austria); Riccabona, M. [Department of Radiology, Division of Pediatric Radiology, Medical University of Graz, Auenbruggerplatz, 8036 Graz (Austria); Maier, E. [Department of Radiology, Medical University of Graz, Auenbruggerplatz, 8036 Graz (Austria)

2011-06-15

Introduction: This retrospective study aimed to assess the value of supplementing heavily T2-weighted, high resolution MR-imaging for detailed anatomic assessment in paediatric lower urogenital tract (UGT) malformations. Patients/methods: Sixteen patients (6 male and 10 female, median age = 1.8 years, range = 0-9 years) with suspected malformations of the lower UGT who were retrospectively identified from the PACS underwent a clinically indicated standard MR-urography study. In order to facilitate a better anatomic assessment of questioned specific lower UGT structures, an additional three-dimensional Constructive Interference in Steady State-sequence (3D-CISS) had been acquired in these patients. The final diagnosis was established by all imaging results and surgical or laprascopic findings. The findings from the CISS-sequence were compared to the results from standard MR-urography for complementary anatomic information and conspicuity. Results: Diagnostic 3D-CISS image quality was achieved in all patients. The 3D-CISS confirmed an ectopic ureteral insertion in six patients and reliably excluded ectopic insertion in 10 patients, whereas conventional MR-urography showed an ectopic insertion of the ureter in one case. In six patients with retrovesical complex formations (suspicious for an ectopic cystic renal bud or a cystic genital structure) the 3D-CISS showed increased conspicuity scores for image quality. Conclusion: The additional 3D-CISS-sequence increases the diagnostic yield in the pelvis in children with complex malformations of the lower UGT such as ectopic ureteral insertion or suspected cystic renal or genital malformations at only minimal additional time, compared to standard MR-urography.

Comparison of MR and fluoroscopic mucous fistulography in the pre-operative evaluation of infants with anorectal malformation: a pilot study

Energy Technology Data Exchange (ETDEWEB)

Alves, Jose C.G.; Lotz, Jan W.; Pitcher, Richard D. [Stellenbosch University, Division of Radiodiagnosis, Department of Medical Imaging and Clinical Oncology, Tygerberg Academic Hospital, Cape Town (South Africa); Sidler, Daniel [Stellenbosch University, Division of Pediatric Surgery, Department of Surgical Sciences, Tygerberg Academic Hospital, Cape Town (South Africa)

2013-08-15

Anorectal malformations are often associated with rectal pouch fistulas. Surgical correction requires accurate evaluation of the presence and position of such fistulas. Fluoroscopy is currently the chosen modality for the detection of fistulas. The role of MRI is unexplored. To compare the diagnostic accuracy of MR versus fluoroscopic fistulography in the pre-operative evaluation of infants with anorectal malformation. We conducted a pilot study of infants requiring defunctioning colostomy for initial management of anorectal malformation. Dynamic sagittal steady-state free-precession MRI of the pelvis was acquired during introduction of saline into the mucous fistulas. Findings were compared among MR fistulography, fluoroscopic fistulography and intraoperative inspection. Eight children were included. Median age at fistulography was 15 weeks, inter-quartile range 13-20 weeks; all were boys. There was full agreement among MR fistulography, fluoroscopic fistulography and surgical findings. The pilot data suggest that MR fistulography is promising in the pre-operative evaluation of children with anorectal malformation. (orig.)

Imaging of the cloacal malformation

International Nuclear Information System (INIS)

Jaramillo, D.; Lebowitz, R.L.; Hendren, W.H.

1989-01-01

Sixty-two newborns with the cloacal malformation were evaluated to define variation in cloacal configuration, associated anomalies, and optimal approach to imaging. Cloacal malformations were classified according to level of urethrovaginal confluence (47 low, 15 high); level of rectal communication (47 vaginal, seven cloacal, eight other); and cloacal appearance (34 urethral, 28 vaginal, 10 transistional). Lower urinary abnormalities included reflux, ureteral ectopia, bladder diverticula, bladder duplication (five), and urachal remnants (five). Uterovaginal abnormalities included duplication and partial agenesis. Anomalies were common in the upper urinary tract, spine (sacral agenesis, 20), and bony pelvis (pubic diastasis, 10). Gastrointestinal, cardiovascular, neurologic, and limb (seven) malformations were seen. Fluoroscopically monitored opacification of the cloacal components and voiding cystourethrogram were essential. Although sonography of the malformation was of limited usefulness, MR imaging seemed to be useful for evaluation of the spinal cord and pelvic musculature

Development and implementation of a clinical pathway approach to simulation-based training for foregut surgery.

Science.gov (United States)

Miyasaka, Kiyoyuki W; Buchholz, Joseph; LaMarra, Denise; Karakousis, Giorgos C; Aggarwal, Rajesh

2015-01-01

Contemporary demands on resident education call for integration of simulation. We designed and implemented a simulation-based curriculum for Post Graduate Year 1 surgery residents to teach technical and nontechnical skills within a clinical pathway approach for a foregut surgery patient, from outpatient visit through surgery and postoperative follow-up. The 3-day curriculum for groups of 6 residents comprises a combination of standardized patient encounters, didactic sessions, and hands-on training. The curriculum is underpinned by a summative simulation "pathway" repeated on days 1 and 3. The "pathway" is a series of simulated preoperative, intraoperative, and postoperative encounters in following up a single patient through a disease process. The resident sees a standardized patient in the clinic presenting with distal gastric cancer and then enters an operating room to perform a gastrojejunostomy on a porcine tissue model. Finally, the resident engages in a simulated postoperative visit. All encounters are rated by faculty members and the residents themselves, using standardized assessment forms endorsed by the American Board of Surgery. A total of 18 first-year residents underwent this curriculum. Faculty ratings of overall operative performance significantly improved following the 3-day module. Ratings of preoperative and postoperative performance were not significantly changed in 3 days. Resident self-ratings significantly improved for all encounters assessed, as did reported confidence in meeting the defined learning objectives. Conventional surgical simulation training focuses on technical skills in isolation. Our novel "pathway" curriculum targets an important gap in training methodologies by placing both technical and nontechnical skills in their clinical context as part of managing a surgical patient. Results indicate consistent improvements in assessments of performance as well as confidence and support its continued usage to educate surgery residents

Contemporary Management of Pulmonary Arteriovenous Malformations.

Science.gov (United States)

Rauh, Nicholas; Gurley, John; Saha, Sibu

2017-12-01

Pulmonary arteriovenous malformations (PAVMs) are atypical vascular structures involving a direct connection between the pulmonary arterial and venous circulations. While PAVMs are a relatively uncommon disorder, unmanaged cases are at risk for the development of serious complications including embolization and infection. Since their first description in 1897, PAVMs have been identified and treated in a variety of ways. Advancements in diagnostic methods and operative techniques have allowed for more effective treatment of the disease. Most recently, the use of vascular plug transcatheter embolization has been described as an effective therapeutic procedure in the management of PAVMs. In this report, we present our experience with nine cases of PAVMs treated at the University of Kentucky, including special consideration of an exemplary case that illustrates the typical course of treatment for the disease.

Outcomes of operations for benign foregut disease in elderly patients: a National Surgical Quality Improvement Program database analysis.

Science.gov (United States)

Molena, Daniela; Mungo, Benedetto; Stem, Miloslawa; Feinberg, Richard L; Lidor, Anne O

2014-08-01

The development of minimally invasive operative techniques and improvement in postoperative care has made surgery a viable option to a greater number of elderly patients. Our objective was to evaluate the outcomes of laparoscopic and open foregut operation in relation to the patient age. Patients who underwent gastric fundoplication, paraesophageal hernia repair, and Heller myotomy were identified via the National Surgical Quality Improvement Program (NSQIP) database (2005-2011). Patient characteristics and outcomes were compared between five age groups (group I: ≤65 years, II: 65-69 years; III: 70-74 years; IV: 75-79 years; and V: ≥80 years). Multivariable logistic regression analysis was used to predict the impact of age and operative approach on the studied outcomes. A total of 19,388 patients were identified. Advanced age was associated with increased rate of 30-day mortality, overall morbidity, serious morbidity, and extended length of stay, regardless of the operative approach. After we adjusted for other variables, advanced age was associated with increased odds of 30-day mortality compared with patients <65 years (III: odds ratio 2.70, 95% confidence interval 1.34-5.44, P = .01; IV: 2.80, 1.35-5.81, P = .01; V: 6.12, 3.41-10.99, P < .001). Surgery for benign foregut disease in elderly patients carries a burden of mortality and morbidity that needs to be acknowledged. Copyright © 2014 Mosby, Inc. All rights reserved.

Genetics Home Reference: cerebral cavernous malformation

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... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital: Cavernous Malformations Disease InfoSearch: Cerebral Cavernous Malformation ...

Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up

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Merzoug, Valerie; Drissi, Cyrine; Adamsbaum, Catherine [Hopital Saint Vincent de Paul, Service de Radiopediatrie, Paris (France); Flunker, Sabrina; Couture, Alain [Hopital Arnaud de Villeneuve, Service de Radiopediatrie, Montpellier cedex 5 (France); Eurin, Danielle [Hopital Charles Nicolle, Service de Radiopediatrie, Rouen (France); Grange, Gilles [Hopital Cochin, Service de Gyneco-Obstetrique, Maternite Port-Royal, Paris (France); Garel, Catherine [Hopital Armand Trousseau, Service de Radiopediatrie, Paris (France); Richter, Brigitte [Hopital Clemenceau, Service de Radiopediatrie, Caen (France); Geissler, Frederic [Centre Hospitalier Universitaire, Service de Radiopediatrie, Clermont Ferrand (France)

2008-04-15

Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n = 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy. (orig.)

Dural sinus malformation (DSM) in fetuses. Diagnostic value of prenatal MRI and follow-up

International Nuclear Information System (INIS)

Merzoug, Valerie; Drissi, Cyrine; Adamsbaum, Catherine; Flunker, Sabrina; Couture, Alain; Eurin, Danielle; Grange, Gilles; Garel, Catherine; Richter, Brigitte; Geissler, Frederic

2008-01-01

Dural sinus malformations (DSM) are rare malformations mainly reported after birth. The objectives of this study are to describe their prenatal patterns and to focus on their possible favorable outcome. This multicenter retrospective study reported 13 cases of DSM prenatally diagnosed. The admission criterion was a dural mass posterior to the vermis. In 12 patients, MRI was performed after US. Follow-up in 10 born babies (mean: 8 months) and three neuropathological examinations were available. In all fetuses, DSM presented as a well-delimited round mass involving the torcular. The follow-up examinations (n = 10) revealed progressive thrombosis of the DSM marked by a heterogeneous pattern (US and MRI) with concentric rings. The volume of the mass decreased, with complete regression in seven patients (five before and two after birth). One child died at the age of 5 months in the context of major hydrocephalus and another developed atrophy of the frontal lobes. The eight other babies were doing well (5 days to 3 years) without any treatment (n = 6) or following treatment for hydrocephalus (n 2). Prenatal DSM may have a typical MR pattern, and the prognosis might not be as bad as has previously been reported. In the absence of criterion to predict the hydrovenous cerebral imbalance, it is mandatory to check the parenchyma and the ventricles during the pregnancy. (orig.)

A proposed radiographic classification scheme for congenital thoracic vertebral malformations in brachycephalic "screw-tailed" dog breeds.

Science.gov (United States)

Gutierrez-Quintana, Rodrigo; Guevar, Julien; Stalin, Catherine; Faller, Kiterie; Yeamans, Carmen; Penderis, Jacques

2014-01-01

Congenital vertebral malformations are common in brachycephalic "screw-tailed" dog breeds such as French bulldogs, English bulldogs, Boston terriers, and pugs. The aim of this retrospective study was to determine whether a radiographic classification scheme developed for use in humans would be feasible for use in these dog breeds. Inclusion criteria were hospital admission between September 2009 and April 2013, neurologic examination findings available, diagnostic quality lateral and ventro-dorsal digital radiographs of the thoracic vertebral column, and at least one congenital vertebral malformation. Radiographs were retrieved and interpreted by two observers who were unaware of neurologic status. Vertebral malformations were classified based on a classification scheme modified from a previous human study and a consensus of both observers. Twenty-eight dogs met inclusion criteria (12 with neurologic deficits, 16 with no neurologic deficits). Congenital vertebral malformations affected 85/362 (23.5%) of thoracic vertebrae. Vertebral body formation defects were the most common (butterfly vertebrae 6.6%, ventral wedge-shaped vertebrae 5.5%, dorsal hemivertebrae 0.8%, and dorso-lateral hemivertebrae 0.5%). No lateral hemivertebrae or lateral wedge-shaped vertebrae were identified. The T7 vertebra was the most commonly affected (11/28 dogs), followed by T8 (8/28 dogs) and T12 (8/28 dogs). The number and type of vertebral malformations differed between groups (P = 0.01). Based on MRI, dorsal, and dorso-lateral hemivertebrae were the cause of spinal cord compression in 5/12 (41.6%) of dogs with neurologic deficits. Findings indicated that a modified human radiographic classification system of vertebral malformations is feasible for use in future studies of brachycephalic "screw-tailed" dogs. © 2014 American College of Veterinary Radiology.

Associated malformations among infants with anophthalmia and microphthalmia.

Science.gov (United States)

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

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

Rare malformation of glans penis: arteriovenous malformation.

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Akin, Y; Sarac, M; Yucel, S

2013-01-01

Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

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

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

2015-04-01

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

Comparison between fast contrast-enhanced MR angiography and DSA in diagnosing spinal cord vascular malformations

International Nuclear Information System (INIS)

Wang Wu; Li Minghua; Fang Chun; Wang Jue; Xiao Yunfeng

2007-01-01

Objective: To evaluate the diagnostic and clinical value of fast contrast-enhanced MR angiography (CE-MRA) with elliptic centric phase-encoding in spinal cord vascular malformations. Methods Fast three-dimensional contrast-enhanced MR angiography with elliptic centric phase-encoding and superconducting 1.5T system was applied prospectively in twenty-five consecutive patients with clinically suspected of spinal cord vascular malformations. All cases were performed with selective spinal digital subtraction angiography, including 18 cases treated by surgery and 2 of them with embolization before surgery, MR angiography follow up were undertaken in ten patients after surgery. Comparing fast contrast-enhanced MR angiography with DSA in diagnosing spinal cord vascular malformations included the origin of feeding artery, the feeding artery, the fistula or the nidus, the draining vein, and the vessel image quality based on the gold standard of selective spinal digital subtraction angiography. Results: Surgically proven diseases included spinal arteriovenous malformations(3 cases), spinal cord perimedullary arteriovenous fistulas (5 cases), spinal dural arteriovenous fistulas (8 cases), paravertebral arteriovenous fistulas (1 case), and spontaneous spinal epidural hematomas (2 eases). Comparing with DSA, the accuracy of MR angiography in diagnosing spinal cord vascular malformations; and detecting the origin of the feeding artery, the feeding artery, the shunt or the nidus and the draining vein were 93.8%, 92%, 96.2%, 100% and 100%, respectively. Overall the degree vascular enhencement were judged to be similar(P>0.05), but the vessel continuity of MRA was inferior to DSA (P<0.05). However, 9 cases of MRA showed no abnormal vascular malformation coinciding with those of surgery. Posttreatment MR angiography did not depict any abnormal vessels again. Conclusions: Fast three-dimensional contrast-enhanced MR angiography with elliptic centric phase-encoding may provide

Hemangiomas versus arterio-venous malformations: Role of elastic stains and mast cell density

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Pravin Pawane

2014-01-01

Full Text Available Context: Vascular anomalies present diagnostic challenges to histopathologists. Mulliken and Glowacki′s classification categorizes vascular lesions into hemangiomas and vascular malformations. Aim: This study explored diagnostic clues in the histomorphology of hemangiomas and vascular malformations. Materials and Methods: A total of 120 cases of benign vascular lesions were retrieved from 12 years period. A total of 94 cases, where complete clinical details and representative paraffin sections were available, were included in this study. Hematoxylin and eosin (H and E stain and Verhoeff′s stain for elastic tissue were done on all cases and lesions were classified into hemangiomas or arterio-venous malformations (AVM. Mast cell density in all lesions was calculated from toluidine blue stained sections. Results: Ten cases of hemangiomas were reclassified as AVM on the basis of presence and absence of arteriovenous structures. Intra-lesional nerves were seen in significantly higher number of AVMs compared to hemangiomas. Medium and thick sized nerve bundles were seen in 56% of AVMs, while they were not seen in any of the hemangiomas. Mean mast cell density was significantly higher in proliferating hemangiomas (53.12 ± 27.83 cells/mm 2 compared to involuting hemangiomas (11.43 ± 7.9 cells/mm 2 . Conclusions: Use of elastic tissue stains are useful ancillary tools to distinguish between AVMs and hemangiomas. The presence of arteries and arterioles are an integral part of AVMs. The presence of the intra-lesional nerves can be useful to distinguish between AVMs and hemangiomas even on H and E stained sections. The significantly higher mast cell density seen in proliferating hemangiomas compared with involuting ones, seem to suggest that mast cells play an important role in the natural history of these lesions.

The use of 4D-CTA in the diagnostic work-up of brain arteriovenous malformations

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Willems, Peter W.A. [Toronto Western Hospital, UHN, Division of Neuroradiology, Department of Medical Imaging, Toronto, Ontario (Canada); Leiden University Medical Center, Department of Radiology, Leiden (Netherlands); Taeshineetanakul, Patamintita; Terbrugge, Karel G.; Krings, Timo [Toronto Western Hospital, UHN, Division of Neuroradiology, Department of Medical Imaging, Toronto, Ontario (Canada); Schenk, Barry; Brouwer, Patrick A. [Leiden University Medical Center, Department of Radiology, Leiden (Netherlands)

2012-02-15

We aimed to evaluate the use of time-resolved whole-head CT angiography (4D-CTA) in patients with an untreated arteriovenous malformation of the brain (bAVM), as demonstrated by catheter angiography (DSA). Seventeen patients with a DSA-proven bAVM were enrolled. These were subjected to 4D-CTA imaging using a 320 detector row CT scanner. Using a standardized scoring sheet, all studies were analyzed by a panel of three readers. This panel was blind to the DSA results at the time of reading the 4D-CTA. 4D-CTA detected all bAVMs. With regard to the Spetzler-Martin grade, 4D-CTA disagreed with DSA in only one case, where deep venous drainage was missed. Further discrepancies between 4D-CTA and DSA analyses included underestimation of the nidus size in small lesions (four cases), misinterpretation of a feeding vessel (one case), misinterpretation of indirect feeding through pial collaterals (three cases) and oversight of mild arterial enlargement (two cases). 4D-CTA correctly distinguished low-flow from high-flow lesions and detected dural/transosseous feeding (one case), venous narrowing (one case) and venous pouches (nine cases). In this series, 4D-CTA was able to detect all bAVMs. Although some angioarchitectural details were missed or misinterpreted when compared to DSA, 4D-CTA evaluation was sufficiently accurate to diagnose the shunt and classify it. Moreover, 4D-CTA adds cross-sectional imaging and perfusion maps, helpful in treatment planning. 4D-CTA appears to be a valuable new adjunct in the non-invasive diagnostic work-up of bAVMs and their follow-up when managed conservatively. (orig.)

The use of 4D-CTA in the diagnostic work-up of brain arteriovenous malformations

International Nuclear Information System (INIS)

Willems, Peter W.A.; Taeshineetanakul, Patamintita; Terbrugge, Karel G.; Krings, Timo; Schenk, Barry; Brouwer, Patrick A.

2012-01-01

We aimed to evaluate the use of time-resolved whole-head CT angiography (4D-CTA) in patients with an untreated arteriovenous malformation of the brain (bAVM), as demonstrated by catheter angiography (DSA). Seventeen patients with a DSA-proven bAVM were enrolled. These were subjected to 4D-CTA imaging using a 320 detector row CT scanner. Using a standardized scoring sheet, all studies were analyzed by a panel of three readers. This panel was blind to the DSA results at the time of reading the 4D-CTA. 4D-CTA detected all bAVMs. With regard to the Spetzler-Martin grade, 4D-CTA disagreed with DSA in only one case, where deep venous drainage was missed. Further discrepancies between 4D-CTA and DSA analyses included underestimation of the nidus size in small lesions (four cases), misinterpretation of a feeding vessel (one case), misinterpretation of indirect feeding through pial collaterals (three cases) and oversight of mild arterial enlargement (two cases). 4D-CTA correctly distinguished low-flow from high-flow lesions and detected dural/transosseous feeding (one case), venous narrowing (one case) and venous pouches (nine cases). In this series, 4D-CTA was able to detect all bAVMs. Although some angioarchitectural details were missed or misinterpreted when compared to DSA, 4D-CTA evaluation was sufficiently accurate to diagnose the shunt and classify it. Moreover, 4D-CTA adds cross-sectional imaging and perfusion maps, helpful in treatment planning. 4D-CTA appears to be a valuable new adjunct in the non-invasive diagnostic work-up of bAVMs and their follow-up when managed conservatively. (orig.)

Arteriovenous malformation of the external ear: a clinical assessment with a scoping review of the literature

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Shin Hye Kim

Full Text Available Abstract Introduction: Auricular Arteriovenous Malformation of the external ear is a rarely encountered disease; in particular, arteriovenous malformation arising from the auricle, with spontaneous bleeding, has seldom been reported. Objective: In the current study, we report an unusual case of late-onset auricular arteriovenous malformation originating from the posterior auricular artery that was confirmed by computed tomographic angiography. The case was successfully managed by pre-surgical intravascular embolization followed by total lesion excision. Prompted by this case, we also present a scoping review of the literature. Methods: A case of a 60 year-old man with right auricular arteriovenous malformation treated in our tertiary care center, and 52 patients with auricular arteriovenous malformation described in 10 case reports and a retrospective review are presented. Auricular arteriovenous malformation can manifest as swelling of the ear, pulsatile tinnitus, pain, and/or bleeding. On physical examination, a pulsatile swelling and/or a tender mass is evident. When arteriovenous malformation is suspected, the lesions should be visualized using imaging modalities that optimally detect vascular lesions, and managed via embolization, mass excision, or auricular resection. Effectiveness of the various diagnostic methods used and the treatment outcomes were analyzed. Results: Various imaging modalities including Doppler sonography, computed tomographic angiography, magnetic resonance angiography, and/or transfemoral cerebral angiography were used to diagnose 38 cases reported in the literature. In another 15 cases, no imaging was performed; treatment was determined solely by physical examination and auscultation. Of the total of 53 cases, 12 were not treated (their symptoms were merely observed whereas 20 underwent therapeutic embolization. In total, 32 patients, including 1 patient who was not treated and 10 with persistent or aggravated

Pattern and outcome of gross congenital malformations at birth ...

African Journals Online (AJOL)

Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide. Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries ...

[Geographic distribution of perinatal mortality due to congenital malformations in Colombia, 1999-2008: An analysis of vital statistics data].

Science.gov (United States)

Misnaza, Sandra Patricia; Roncancio, Claudia Patricia; Peña, Isabel Cristina; Prieto, Franklin Edwin

2016-09-01

During 2012, 13% of the deaths worldwide in children under the age of 28 days were due to congenital malformations. In Colombia, congenital malformations are the second leading cause of infant mortality. Objective: To determine the geographical distribution of extended perinatal mortality due to congenital malformations in Colombia between 1999 and 2008. Materials and methods: We conducted a cross-sectional study. We revised all death certificates issued between 1999 and 2008. We defined perinatal mortality as fetal or non-fetal deaths within the first 28 days after delivery in children with body weight ≥500 grams, and congenital malformations according to ICD-10 diagnostic codes Q000 - Q999. The annual birth projection was used as the denominator. We defined high mortality areas due to congenital malformations as those in the 90th percentile. Results: We recorded 22,361 perinatal deaths due to congenital malformations. The following provinces exceeded the 90th perinatal mortality percentile: Antioquia, Caldas, Risaralda, Huila, Quindío, Bogotá, Valle del Cauca and Guainía. Among the municipalities, the highest perinatal mortality rates were found in Giraldo, Ciudad Bolívar, Riosucio, Liborina, Supía, Alejandría, Sopetrán, San Jerónimo, Santa Fe de Antioquia and Marmato (205.81 and 74.18 per 10.000 live births).The perinatal mortality rate due to malformations of the circulatory system was 28.1 per 10.000 live births, whereas the rates for central nervous system defects and chromosomal abnormalities were 13.7 and 7.0, respectively. The Andean region showed high perinatal mortality rates due to congenital malformations. There is an urgent need to identify possible risk factors of perinatal mortality and implement successive prevention programs in that particular region.

A case report of Ggeneralized uterine arteriovenous malformation after molar pregnancy in an infertile woman

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Firoozeh Ahmadi

2018-02-01

Full Text Available Background: Uterine arteriovenous malformation (UAVM is a rare vascular condition in reproductive age presented mostly with bleeding. Although this malformation is infrequent, it is potentially life-threatening. Transvaginal Doppler ultrasonography is a widely available, noninvasive and excellent diagnostic method. Case: The case is a 30-yr-old woman with a history of eight-yr infertility.following intrauterine insemination treatment, she had a molar pregnancy. Despite methotrexate treatment, there was persistent vaginal bleeding. Assessment of this patient was done with transvaginal sonography and color Doppler. According to suspicious appearances, angiography was planned for confirmation of UAVM. Conclusion: UAVM is one of the molar pregnancy complications. The first step for diagnosis of UAVM is transvaginal ultrasonography and color Doppler assessment. Embolization is the best treatment for women who intend to preserve fertility.

Study of placenta of children born with congenital malformations.

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

2003-01-01

The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

Arteriovenous malformations of the uterus.

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Cura, M; Martinez, N; Cura, A; Dalsaso, T J; Elmerhi, F

2009-09-01

Arterial venous malformations (AVM) of the uterus are uncommon entities and should be considered in patients who present with profuse genital bleeding. There are two types of uterine AVM: acquired and congenital. Acquired uterine AVMs are conformed by communications between the uterine arteries and the myometrial veins, and are caused by an iatrogenic event or a pathological condition. Congenital AVMs are the result of abnormal development of primitive vessels that result in connections between pelvic arteries and veins in the uterus without an interconnecting capillary bed. Ultrasonography is a noninvasive diagnostic method able to demonstrate and characterize AVMs of the uterus. AVM in the pelvis may be noted incidentally by computed tomography (CT) of the pelvis, and magnetic resonance imaging (MRI) is frequently used to confirm and further characterize the sonographic findings of uterine AVM. Catheter angiography and embolization are very effective in defining the vascular anatomy and treating uterine vascular abnormalities.

Brain Malformations

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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, ...

Multislice spiral computed tomography imaging in congenital inner ear malformations.

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Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

2008-01-01

The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

Syringomyelia associated with Chiari malformation in children

International Nuclear Information System (INIS)

Sakamoto, Hiroaki; Kitano, Shouhei; Nishikawa, Misao; Yasui, Toshihiro; Fujitani, Ken; Hakuba, Akira; Nakanishi, Naruhiko

1997-01-01

Among 28 patients with myelomeningocele (MMC group), the myelomeningocele in all patients was repaired shortly after birth, and a shunt was implanted for the associated hydrocephalus in 18 patients. MRI of the group of 28 indicated 20 were afflicted with Chiari II malformation, and the remaining 8 by Chiari I malformation. Among 8 patients lacking myelomeningocele (non-MMC group), seven demonstrated a large syrinx at the cervical and cervico-thoracic level; only one had a syrinx extending from the cervical level down to the lumbar level. None of these patients had hydrocephalus. Surgical decompression to improve cerebrospinal fluid (CSF) flow at the major cistern improved neurological signs in 7 patients. MRI indicated 4 patients were afflicted with Chiari I malformation, and the remaining 4 with Chiari II malformation. In the MMC group, the initial development of the syrinx at the lumbar level may be the result of a combination of occlusion of the caudal end of the central canal brought about by repair of the myelomeningocele and CSF flow into the hydromyelic cavity via the patent proximal portion of the central canal. In the non-MMC group, the syringomyelia may be considered an early onset type of syringomyelia associated with adult type Chiari malformation because the location of the syrinx was quite similar to that found in adult type Chiari malformation, and decompressive surgery was quite effective. In the non-MMC group, turbulence of the CSF now at the major cistern caused by the herniated cerebellum plays an important role in the enlargement of the syringomyelia. To offer greater appropriate management of pediatric Chiari malformation accompanied by syringomyelia, the malformation should be classified not by degree of the herniated brain tissue but by its association with neural tube defect (myelomeningocele). (K.H.)

Chiari I malformation associated with turner syndrome

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Kamble Jayaprakash Harsha

2017-01-01

Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

Human malformations induced by environmental noxae

International Nuclear Information System (INIS)

Hecker, W.C.; Angerpointner, T.A.

1980-01-01

The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals. (MG) [de

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L.; Urhoj, S. K.; Kjærgaard, J.

2017-01-01

fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Genetics Home Reference: megalencephaly-capillary malformation syndrome

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

Arteriovenous Malformations

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Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An ...

Spontaneous ileal perforation complicating low anorectal malformation

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TiJesuni Olatunji

2015-01-01

Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

Congenital malformations of the skull and meninges.

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Kanev, Paul M

2007-02-01

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

Sincipital Encephaloceles: A Study of Associated Brain Malformations

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Shashidhar Vedavyas Achar

2016-01-01

Full Text Available 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.

Minor Coat and Heat Shock Proteins Are Involved in the Binding of Citrus Tristeza Virus to the Foregut of Its Aphid Vector, Toxoptera citricida.

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Killiny, N; Harper, S J; Alfaress, S; El Mohtar, C; Dawson, W O

2016-11-01

Vector transmission is a critical stage in the viral life cycle, yet for most plant viruses how they interact with their vector is unknown or is explained by analogy with previously described relatives. Here we examined the mechanism underlying the transmission of citrus tristeza virus (CTV) by its aphid vector, Toxoptera citricida, with the objective of identifying what virus-encoded proteins it uses to interact with the vector. Using fluorescently labeled virions, we demonstrated that CTV binds specifically to the lining of the cibarium of the aphid. Through in vitro competitive binding assays between fluorescent virions and free viral proteins, we determined that the minor coat protein is involved in vector interaction. We also found that the presence of two heat shock-like proteins, p61 and p65, reduces virion binding in vitro Additionally, treating the dissected mouthparts with proteases did not affect the binding of CTV virions. In contrast, chitinase treatment reduced CTV binding to the foregut. Finally, competition with glucose, N-acetyl-β-d-glucosamine, chitobiose, and chitotriose reduced the binding. These findings together suggest that CTV binds to the sugar moieties of the cuticular surface of the aphid cibarium, and the binding involves the concerted activity of three virus-encoded proteins. Limited information is known about the specific interactions between citrus tristeza virus and its aphid vectors. These interactions are important for the process of successful transmission. In this study, we localized the CTV retention site as the cibarium of the aphid foregut. Moreover, we demonstrated that the nature of these interactions is protein-carbohydrate binding. The viral proteins, including the minor coat protein and two heat shock proteins, bind to sugar moieties on the surface of the foregut. These findings will help in understanding the transmission mechanism of CTV by the aphid vector and may help in developing control strategies which interfere

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

Science.gov (United States)

Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Angiographic findings of congenital vascular malformation in soft tissue

International Nuclear Information System (INIS)

Choi, Dae Seob; Park, Jae Hyung; Han, Joon Koo; Chung, Jin Wook; Moon, Woo Kyung; Han, Man Chung

1994-01-01

We evaluated the clinical, plain radiographic, and angiographic findings of congenital vascular malformation of the soft tissue. Retrospective analysis was performed in 36 patients. Pathological diagnosis was done in 25 patients by surgery and the others were clinically and angiographically diagnosed. On the basis of angiographic findings, we classified the lesions to three groups as arteriovenous malformation (AVM), hemangioma, and venous malformation. In pathologically proven 25 cases, we compared the angiographic diagnosis with the pathologic diagnosis. By angiographic classification, AVM was 13 cases, hemangioma 16 cases, and venous malformation 7 cases. The locations of the lesions were upper extremities in 14 cases, lower extremities in 20 cases, both extremities in 1 case, and back in 1 case. Clinical findings were bruit and thrill in 13 cases(12 AVMs,1 hemangioma) and varicosities in 16 cases(11 AVMs, 3 hemangiomas and 2 venous malformations). The varicosities in AVM were pulsating nature, but not in hemangioma and venous malformation. The concordance rate of the angiographic and pathologic diagnosis was 100%(6/6) in AVM, 71%(10/14) in hemangioma and 60% (3/5) in venous malformation. We think that angiography is an essential study for accurate diagnosis and appropriate treatment of congenital vascular malformation

MR imaging of anorectal malformations and associated anomalies

International Nuclear Information System (INIS)

Nievelstein, R.A.J.; Valk, J.; Vos, A.

1998-01-01

Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

Endometriosis and uterine malformations: infertility may increase severity of endometriosis.

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Boujenah, Jeremy; Salakos, Eleonora; Pinto, Mélodie; Shore, Joanna; Sifer, Christophe; Poncelet, Christophe; Bricou, Alexandre

2017-06-01

The aim of our study was to compare the stage and severity of endometriosis in fertile and infertile women with congenital uterine malformations. We performed an observational study from September 2007 to December 2015 in a tertiary care university hospital and assisted reproductive technology center. A total of 52 patients with surgically proven uterine malformations were included. We compared 41 infertile patients with uterine malformations with 11 fertile patients with uterine malformation. The main outcome was the stage, score and type of endometriosis in regard to infertility and class of uterine malformation. The rate of endometriosis did not differ between the two groups (43.9 vs. 36.4%). The mean revised American Fertility Society score was higher in infertile patients with uterine malformations (19.02 vs. 6, p endometriosis (43.9 vs. 37.5%). Endometrioma and deep infiltrating endometriosis were associated with uterine malformations in infertile women, respectively 14.6 and 0%. No difference in the characteristics of endometriosis was found regarding the class of malformation. The association of uterine malformations and infertility may increase the severity of endometriosis and raise the issue of their diagnosis and management. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

Transcatheter arterial embolization for congenital renal arteriovenous malformation

International Nuclear Information System (INIS)

Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

2008-01-01

Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

Early diagnosis of congenital vascular malformation as a condition to rapid prevention of complications – case study

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Dominika Jaguś

2017-06-01

Full Text Available Klippel–Trénaunay syndrome is a rare congenital condition characterised by a triad of symptoms: capillary-lymphatic-venous malformations, varicose veins and venous malformations as well as soft tissue and skeletal hypertrophy of the affected limb. In this article, we present a case of a 5-year-old boy with extensive vascular malformations of the lower limbs and the buttock region. In this case, manifestation of all three symptoms was gradual. At the age of 4 years, the patient was admitted to the Department of Imaging Diagnostics for further diagnosis, where the triad characteristic for Klippel–Trénaunay syndrome and popliteal vein agenesis were diagnosed. Currently, a multidisciplinary team takes care of the boy in the Children’s Memorial Health Institute. Early and accurate diagnosis allows for rapid prevention of complications associated with Klippel–Trénaunay syndrome and enables patient-tailored treatment.

Maternal smoking in pregnancy and risk for congenital malformations

DEFF Research Database (Denmark)

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

2014-01-01

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

Update on neuroimaging phenotypes of mid-hindbrain malformations

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Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

2014-10-23

Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

[Diagnostic bronchoscopy: contribution of the flexible video endoscopy].

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Labbé, A

2007-12-01

The author describes the use of paediatric flexible videobronchoscopy. Examinations were performed in newborn, infant and child. In neonatal period, the technique is used for the diagnostic of congenital malformation of airway, upper airway obstruction, pre operative evaluation of tracheooesophageal fistula. In children, more frequent indications are airway obstruction with non clear cause, stridor, chronic cough, congenital malformation of airway, tracheomalacia, follow-up of lung transplantation. In intensive care unit, this technique is very useful in the cases of atelectasis, stridor post extubation, follow-up in prolonged intubation and tracheotomy. The possibility of direct visualization of the anomalies in screen and the function of numeric record are important for diagnosis and teaching procedure.

Congenital malformations of the external and middle ear

International Nuclear Information System (INIS)

Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

2009-01-01

With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented

Anomalous facial nerve canal with cochlear malformations.

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Romo, L V; Curtin, H D

2001-05-01

Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

Clinical review of inner ear malformation

International Nuclear Information System (INIS)

Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

2003-01-01

We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

Congenital Vascular Malformation

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... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit from elastic garments and bandages used for com- ...

Interventional treatment of pulmonary arteriovenous malformations

DEFF Research Database (Denmark)

Andersen, Poul Erik; Kjeldsen, Anette Drøhse

2010-01-01

Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT....

Eye malformations in Cameroonian children: a clinical survey

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Eballé AO

2012-10-01

Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: 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.Keywords: malformations, ophthalmology, child, Cameroon

Ethanol sclerotherapy of peripheral venous malformations

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Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

2004-12-01

Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

Ethanol sclerotherapy of peripheral venous malformations

International Nuclear Information System (INIS)

Rimon, U.; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B.

2004-01-01

Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

International Nuclear Information System (INIS)

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

1986-01-01

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

Arteriovenous malformation of face

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Ashok Kumar

2017-01-01

Full Text Available Arteriovenous malformations (AVMs are rare congenital vascular malformations accounting only 1.5% of all vascular anomalies with 50% occurrence in the oral and maxillofacial region. It usually results from birth defects of the vasculature. A literature search revealed only few case reports of AVMs in the facial region. Lack of meticulous diagnosis, scarcity of knowledge, and paucity of literature can result in their exsanguinations leading to fatal hemorrhagic incidents after various dental procedures such as tooth extraction, surgical intervention, puncture wound, or blunt injury in involved area. The present case describes the accidental diagnosis of asymptomatic high-flow AVMs in the facial region of pediatric patient reported primarily for the treatment of periapical abscess. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigations diagnosed it as high-flow vascular malformation. It is important for the dental practitioner to be aware of AVM which may be present in the head and neck region that can produce fatal bleeding episodes during various dental procedures. Proper diagnosis of AVMs through complete history, precise clinical examination, and advanced imaging modalities can help in preventing serious life-threatening complications.

The presentation and management of complex female genital malformations.

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Acién, Pedro; Acién, Maribel

2016-01-01

Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

Interventional management of high-flow vascular malformations.

Science.gov (United States)

Rosen, Robert J; Nassiri, Naiem; Drury, Jennifer E

2013-03-01

High-flow vascular malformations are among the most challenging lesions in the field of interventional radiology. For an optimal long-term result, the clinician must have a full understanding of the types of lesions, their natural history, appropriate diagnostic studies, indications for treatment, and all the treatment options, including surgery, embolization, laser, and pharmacotherapy. Surgery should, in general, be used primarily for lesions that are completely resectable or are so bulky that embolization would not provide a satisfactory result. Embolization techniques are directed at elimination of the nidus of the lesion, using a variety of penetrating embolic agents both by direct puncture and transcatheter approaches. This paper reviews the principles and techniques primarily involving embolization for lesions occurring in various parts of the body, emphasizing the lessons learned in treating more than 2000 patients over a 30-year period. Copyright © 2013 Elsevier Inc. All rights reserved.

Arteriovenous malformation of the mandible

International Nuclear Information System (INIS)

Kim, Dong Youn; Lee, Kang Sook; Choi, Karp Shik

1995-01-01

The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations. The following result were obtained; 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area and redness, pain on palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radionuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

MR findings of congenital anorectal malformation

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Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

1995-05-15

To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

MR findings of congenital anorectal malformation

International Nuclear Information System (INIS)

Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

1995-01-01

To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation

Cranial CT signs of the Chiari II malformation

International Nuclear Information System (INIS)

Naidich, T.P.; Pudlowski, R.M.

1980-01-01

Serial CT scans of 32 patients with proved Chiari II malformations and 19 patients with hydrocephalus and meningomyelocele (presumed to have Chiari II malformation) were reviewed and compared with CT scans from 30 patients with non-chiari aqueductal stenosis to develop criteria for identifying the Chiari II malformation and for differentiating it from other forms of hydrocephalus. Correlation with post-mortem specimens of Chiari II brains provided a pathologic basis for the CT signs observed. (orig.) [de

A case of pancreatic AV malformation in an elderly man.

Science.gov (United States)

Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

2018-06-01

A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

Malformations detected by abdominal ultrasound in children with congenital heart disease.

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Rosa, Rosana Cardoso Manique; Rosa, Rafael Fabiano Machado; Flores, José Antônio Monteiro; Golendziner, Eliete; Oliveira, Ceres Andréia Vieira de; Varella-Garcia, Marileila; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo Gazzola

2012-12-01

Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality. Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), compare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS. We conducted a cross-sectional study with a control cohort. The cases consisted of patients with CHD admitted for the first time in a pediatric intensive care unit; the controls consisted of children without CHD who underwent AUS at the hospital shortly thereafter a case. All patients with CHD underwent AUS, high-resolution karyotype and fluorescence in situ hybridization (FISH) for microdeletion 22q11.2. AUS identified clinically significant abnormalities in 12.2% of the cases and 5.2% of controls (p= 0.009), with a power of significance of 76.6%. Most malformations with clinical significance were renal anomalies (10.4% in cases and 4.9% in controls; p= 0.034). In Brazil, the cost of an AUS examination for the Unified Health System is US$ 21. Since clinically significant abnormalities were observed in one in every 8.2 CHD patients, the cost to identify an affected child was calculated as approximately US$ 176. Patients with CHD present a significant frequency of abdominal abnormalities detected by AUS, an inexpensive and noninvasive diagnostic method with good sensitivity. The cost of screening for these defects is considerably lower than the cost to treat the complications of late diagnoses of abdominal malformations such as renal disease.

Congenital vascular malformations in scintigraphic evaluation

International Nuclear Information System (INIS)

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

2014-01-01

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. 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. 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

Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

Science.gov (United States)

Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

2015-10-01

To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

Generalized pixel profiling and comparative segmentation with application to arteriovenous malformation segmentation.

Science.gov (United States)

Babin, D; Pižurica, A; Bellens, R; De Bock, J; Shang, Y; Goossens, B; Vansteenkiste, E; Philips, W

2012-07-01

Extraction of structural and geometric information from 3-D images of blood vessels is a well known and widely addressed segmentation problem. The segmentation of cerebral blood vessels is of great importance in diagnostic and clinical applications, with a special application in diagnostics and surgery on arteriovenous malformations (AVM). However, the techniques addressing the problem of the AVM inner structure segmentation are rare. In this work we present a novel method of pixel profiling with the application to segmentation of the 3-D angiography AVM images. Our algorithm stands out in situations with low resolution images and high variability of pixel intensity. Another advantage of our method is that the parameters are set automatically, which yields little manual user intervention. The results on phantoms and real data demonstrate its effectiveness and potentials for fine delineation of AVM structure. Copyright © 2012 Elsevier B.V. All rights reserved.

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Congenital malformations among newborns in Kenya | Muga ...

African Journals Online (AJOL)

Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing factors in their mothers. This single cross-sectional ... followed by malformations of the central nervous system (28.6%). Polydactyl was the most ...

Field guide to malformations of frogs and toads: with radiographic interpretations

Science.gov (United States)

Meteyer, Carol U.

2000-01-01

In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.Development begins at the time an egg is fertilized and progresses by chemical communication between cells and cell layers. This communication is programmed through gene expression. Malformations represent primary errors in development, errors in chemical communication or translation of genetic information. Deformations arise later in development and usually result from the influence of mechanical factors (such as amputation) that alter shape or anatomy of a structure that has developed normally. The occurrence and the type of malformations are influenced by the type of error or insult as well as the timing of the error (the developmental stage at which the error occurred). The appearance of the malformation can therefore provide clues that suggest when the error may have occurred. If the malformation is an incomplete organ, such as an incomplete limb, the

Contribution of Rare Copy Number Variants to Isolated Human Malformations

Science.gov (United States)

Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

2012-01-01

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

Skeletal malformations in fetuses with Meckel syndrome

DEFF Research Database (Denmark)

Kjaer, K W; Fischer Hansen, B; Keeling, J W

1999-01-01

one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included...

Perinatal outcome of obvious congenital malformation as seen at the ...

African Journals Online (AJOL)

Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...

Common congenital malformations of the brain

International Nuclear Information System (INIS)

Naidich, T.P.; Zimmerman, R.A.

1987-01-01

In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

New trends in chromosomal investigation in children with cardiovascular malformations.

Science.gov (United States)

Schellberg, Ruth; Schwanitz, Gesa; Grävinghoff, Lutz; Kallenberg, Rolf; Trost, Detlef; Raff, Ruth; Wiebe, Walter

2004-12-01

We investigated a group of 376 children, seen over a period of 7 years with different types of congenital cardiovascular defects, to assess the presence of chromosomal aberrations. The diagnostic approach, achieved in 3 consecutive steps, revealed conventional chromosomal aberrations in 30 of the patients (8%) excluding trisomies 13, 18, 21. Fluorescence in situ hybridisation for microdeletions showed 51 microdeletions (15%), with 43 patients having deletions of 22q11.2, 7 patients with deletion of 7q11.23, and 1 patient with deletion of 4p16.3. In 23 patients with additional clinical abnormalities, we carried out a subtelomeric screening. This revealed, in two cases (9%), different subtelomeric aberrations, namely deletions of 1p and of 1q. Thus, subtelomeric screening proved to be a very valuable as a new diagnostic approach. Our approach to genetic investigation in three phases makes it possible to detect a high rate of pathologic karyotypes in patients with congenital cardiovascular malformations, thus guaranteeing more effective genetic counselling of the families, and a more precise prognosis for the patient.

Surgical experience with arteriovenous malformations of the brain

International Nuclear Information System (INIS)

Stein, B.M.

1984-01-01

Personal experience with the treatment of 200 arteriovenous malformations of the brain seen during the past decade is presented. One hundred and twenty of these patients underwent surgery, with a mortality of 1,7%. The morbidity rate of 10% includes cases of hemianopia after occipital malformations had been removed. Significant morbidity, including aphasia, hemiparesis and hemisensory loss, occurred in under 10% of cases. Computerized tomography plays an important role in determining the relationships of the arteriovenous malformations to associated structures such as the ventricular system

Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

International Nuclear Information System (INIS)

Abdel-Gawad, I.I.; Mohammad, M.H.M.

2000-01-01

Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9 th , 12 th and 15 th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12 th and 15 th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

Congenital spinal malformations; Kongenitale spinale Malformationen

Energy Technology Data Exchange (ETDEWEB)

Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

2001-12-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

Therapies for neonates with congenital malformations admitted to a neonatal unit

Directory of Open Access Journals (Sweden)

Maria Vera Lúcia Moreira Leitão Cardoso

2015-03-01

Full Text Available The aim of this study was to characterize the treatments applied to newborns with congenital malformation hospitalized in a neonatal unit and to identify whether there is an association among the treatments used and the type of malformation. A descriptive, prospective and quantitative study was developed in a public institution in Fortaleza, Ceará, Brazil. Data were collected using the medical records of 30 neonates with congenital malformations. The incidence of malformations was higher among females, regardless of the mother’s age, gestational age or weight at birth; malformations of the central nervous and musculoskeletal systems prevailed. The treatments used varied according to the clinical evolution of the neonate. The data collected did not present statistical significance when associated with the variable of congenital malformation and the treatments used (p>0.05. The treatments are not directly related to the type of malformation, but to the clinical condition of the neonate.

[Diagnosis and management of Mondini malformation].

Science.gov (United States)

Yang, W; Fang, Y; Yang, S

1997-02-01

Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

First report of microcephaly-capillary malformations syndrome in ...

African Journals Online (AJOL)

Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

Anaesthetic management of a child with massive extracranial arteriovenous malformation

Directory of Open Access Journals (Sweden)

Faisal Shamim

2012-01-01

Full Text Available Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

Multispectral Video-Microscope Modified for Skin Diagnostics

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Rubins U.

2014-12-01

Full Text Available Commercial DinoLite AD413 digital microscope was modified for skin diagnostics purposes. The original LED ring (4 white and 4 ultraviolet light emitters of microscope was replaced by a custom-designed 16-LED ring module consisting of four LED groups (450, 545, 660 and 940 nm, and an onboard LED controller with USB hub was added. The video acquisition and LED switching are performed using custom-designed Matlab software which provides real-time spectral analysis of multi-spectral images and calculation of skin chromophore optical density. The developed multispectral video-microscope is mainly meant for diagnostics of skin malformations, e.g. skin cancerous lesions.

Lamb congenital lymphatic malformation - a case report

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Neria Santos

2014-01-01

Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

Genetic causes of congenital brain malformations in epilepsy patients

DEFF Research Database (Denmark)

Møller, Rikke Steensbjerre

2008-01-01

The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological va...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients.......The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...

Mortality among infants with congenital malformations, New York State, 1983 to 1988.

Science.gov (United States)

Druschel, C; Hughes, J P; Olsen, C

1996-01-01

OBJECTIVE. The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS. Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, maternal education, and maternal ethnicity. RESULTS. Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.5 in 1983 to 5.9 in 1988. Birth weight and number of malformations were the strongest risk factors. The likelihood of survival was similar for white and black infants. CONCLUSIONS. Being born with a malformation outweighs most of the other risks for infant mortality. Children with congenital malformations had higher cause-specific mortality for all causes except injury. PMID:8711105

Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study.

Science.gov (United States)

Schierz, Ingrid Anne Mandy; Pinello, Giuseppa; Giuffrè, Mario; La Placa, Simona; Piro, Ettore; Corsello, Giovanni

2016-12-01

Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified. Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality. The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Arteriovenous Malformation of the Pancreas

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Alexandros Charalabopoulos

2011-01-01

Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

Clinical and Genetic Studies in Inherited Cardiovascular Malformations

NARCIS (Netherlands)

I.M.B.H. van de Laar (Ingrid)

2012-01-01

textabstractCardiovascular malformations comprise a broad spectrum of anomalies of the heart and blood vessels, including congenital heart malformations (CHM) and aortic aneurysms, the two main topics of this thesis. These conditions lead to significant morbidity and mortality both in infancy and

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

2007-01-01

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

Congenital pseudoarthrosis associated with venous malformation

Energy Technology Data Exchange (ETDEWEB)

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

2007-06-15

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

Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations.

Science.gov (United States)

Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

2017-01-01

To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor-exposed pregnancies was 5.9% compared with 3.3% in the unexposed (unadjusted relative risk, 1.82; 95% confidence interval [CI] 1.61-2.06), of cardiac malformations was 3.4% compared with 1.2% (relative risk 2.95, 95% CI 2.50-3.47), and of central nervous system malformations was 0.27% compared with 0.18% (relative risk 1.46, 95% CI 0.81-2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk of any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75-1.06) for overall malformations, 0.95 (95% CI 0.75-1.21) for cardiac malformations, and 0.54 (95% CI 0.26-1.11) for CNS malformations. After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations.

The heart tube forms and elongates through dynamic cell rearrangement coordinated with foregut extension.

Science.gov (United States)

Kidokoro, Hinako; Yonei-Tamura, Sayuri; Tamura, Koji; Schoenwolf, Gary C; Saijoh, Yukio

2018-03-29

In the initiation of cardiogenesis, the heart primordia transform from bilateral flat sheets of mesoderm into an elongated midline tube. Here, we discover that this rapid architectural change is driven by actomyosin-based oriented cell rearrangement and resulting dynamic tissue reshaping (convergent extension, CE). By labeling clusters of cells spanning the entire heart primordia, we show that the heart primordia converge toward the midline to form a narrow tube, while extending perpendicularly to rapidly lengthen it. Our data for the first time visualize the process of early heart tube formation from both the medial (second) and lateral (first) heart fields, revealing that both fields form the early heart tube by essentially the same mechanism. Additionally, the adjacent endoderm coordinately forms the foregut through previously unrecognized movements that parallel those of the heart mesoderm and elongates by CE. In conclusion, our data illustrate how initially two-dimensional flat primordia rapidly change their shapes and construct the three-dimensional morphology of emerging organs in coordination with neighboring morphogenesis. © 2018. Published by The Company of Biologists Ltd.

Copy-Number Disorders Are a Common Cause of Congenital Kidney Malformations

Science.gov (United States)

Sanna-Cherchi, Simone; Kiryluk, Krzysztof; Burgess, Katelyn E.; Bodria, Monica; Sampson, Matthew G.; Hadley, Dexter; Nees, Shannon N.; Verbitsky, Miguel; Perry, Brittany J.; Sterken, Roel; Lozanovski, Vladimir J.; Materna-Kiryluk, Anna; Barlassina, Cristina; Kini, Akshata; Corbani, Valentina; Carrea, Alba; Somenzi, Danio; Murtas, Corrado; Ristoska-Bojkovska, Nadica; Izzi, Claudia; Bianco, Beatrice; Zaniew, Marcin; Flogelova, Hana; Weng, Patricia L.; Kacak, Nilgun; Giberti, Stefania; Gigante, Maddalena; Arapovic, Adela; Drnasin, Kristina; Caridi, Gianluca; Curioni, Simona; Allegri, Franca; Ammenti, Anita; Ferretti, Stefania; Goj, Vinicio; Bernardo, Luca; Jobanputra, Vaidehi; Chung, Wendy K.; Lifton, Richard P.; Sanders, Stephan; State, Matthew; Clark, Lorraine N.; Saraga, Marijan; Padmanabhan, Sandosh; Dominiczak, Anna F.; Foroud, Tatiana; Gesualdo, Loreto; Gucev, Zoran; Allegri, Landino; Latos-Bielenska, Anna; Cusi, Daniele; Scolari, Francesco; Tasic, Velibor; Hakonarson, Hakon; Ghiggeri, Gian Marco; Gharavi, Ali G.

2012-01-01

We examined the burden of large, rare, copy-number variants (CNVs) in 192 individuals with renal hypodysplasia (RHD) and replicated findings in 330 RHD cases from two independent cohorts. CNV distribution was significantly skewed toward larger gene-disrupting events in RHD cases compared to 4,733 ethnicity-matched controls (p = 4.8 × 10−11). This excess was attributable to known and novel (i.e., not present in any database or in the literature) genomic disorders. All together, 55/522 (10.5%) RHD cases harbored 34 distinct known genomic disorders, which were detected in only 0.2% of 13,839 population controls (p = 1.2 × 10−58). Another 32 (6.1%) RHD cases harbored large gene-disrupting CNVs that were absent from or extremely rare in the 13,839 population controls, identifying 38 potential novel or rare genomic disorders for this trait. Deletions at the HNF1B locus and the DiGeorge/velocardiofacial locus were most frequent. However, the majority of disorders were detected in a single individual. Genomic disorders were detected in 22.5% of individuals with multiple malformations and 14.5% of individuals with isolated urinary-tract defects; 14 individuals harbored two or more diagnostic or rare CNVs. Strikingly, the majority of the known CNV disorders detected in the RHD cohort have previous associations with developmental delay or neuropsychiatric diseases. Up to 16.6% of individuals with kidney malformations had a molecular diagnosis attributable to a copy-number disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances. A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay. PMID:23159250

Congenital malformations in infants born after in vitro fertilization in Sweden.

Science.gov (United States)

Källén, Bengt; Finnström, Orvar; Lindam, Anna; Nilsson, Emma; Nygren, Karl-Gösta; Otterblad, Petra Olausson

2010-03-01

The risk for congenital malformations is increased in infants born after in vitro fertilization (IVF). Some specific malformations appear to be more affected than others. The presence of congenital malformations in 15,570 infants born after IVF with an embryo transfer between April 1, 2001, and the end of 2006 were compared with all infants born in Sweden during 2001 to 2007 (n = 689,157). Risk estimates were made after adjusting for year of birth, maternal age, parity, smoking, and body mass index. The risks of specific malformations were compared with data from a previous study (1982 to March 31, 2001) of 16,280 infants born after IVF. Different IVF methods were compared to respect to malformation risk. Increased risks of a similar magnitude were found for most cardiovascular malformations and limb reduction defects for both study periods. For neural tube defects, cardiac septal defects, and esophageal atresia, there was still an increased risk, but it was lower during the second than during the first period. For small bowel atresia, anal atresia, and hypospadias, the risk increase observed during the first study period had disappeared during the second period. An increased risk was seen for some syndromes that have been associated with imprinting errors. No difference in malformation risk according to IVF method was apparent. A slightly increased risk for congenital malformations after IVF persists. A decreasing risk is seen for some specific malformations, either true or the result of multiple testing. Copyright 2010 Wiley-Liss, Inc.

Congenital cystic lung malformations

International Nuclear Information System (INIS)

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

2006-01-01

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

Meningitis after cochlear implantation in Mondini malformation.

Science.gov (United States)

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.

[Clinical analysis of 102 patients with congenital inner ear malformation].

Science.gov (United States)

Zhu, X; Lian, N; Cai, Z

1995-01-01

Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

Gross congenital malformation at birth in a government hospital.

Science.gov (United States)

Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

2014-01-01

A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management.

Fetal MRI clues to diagnose cloacal malformations

Energy Technology Data Exchange (ETDEWEB)

Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

2011-09-15

Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

Diagnostic radiology of thoracic diseases. Textbook and atlas. 4. compl. rev. and enl. ed.; Radiologische Diagnostik der Thoraxerkrankungen. Lehrbuch und Atlas

Energy Technology Data Exchange (ETDEWEB)

Lange, Sebastian

2010-07-01

The book on diagnostic radiology of thoracic diseases covers the following topics: diagnostic techniques and normal diagnostic findings using x-ray radiography, CT, scintigraphy, angiography, bronchography, ultrasonography and NMR imaging; malformations; infections; emphysema, chronic lung diseases and asthma; inhalation damage and pneumoconiosis; neoplasm; vascular diseases; thorax injuries, pleura diseases, heart diseases, mediastinum diseases; midriff diseases; thoracic wall diseases; pathological pattern in CT; radiological indications and differential diagnostics; thoracic interventions.

Neuroradiological evaluation of dorsal cyst malformations

International Nuclear Information System (INIS)

Utsunomiya, Hidetsuna; Hayashi, Takashi; Hashimoto, Takeo; Matsuishi, Toyojiro; Okudera, Toshio.

1988-01-01

We discussed six cases with dorsal cyst malformations listing their neuroradiological observations and proposed to differentiate between the holosphere and hemisphere as defined by Yokota (1984). The cases were divided into holospheric and hemispheric groups depending on the continuity of their frontal lobe midlines. Cases 1, 2 and 3 were placed in the holospheric group because of their unseparated frontal lobe sbeneath the partially formed anterior interhemispheric fissures. Cases 4, 5 and 6 were grouped in the hemisphere due to the completion of the interhemispheric fissures. There has been a tendency in recent years for most cases of cerebral malformations having an endogenous dorsal cyst with monoventricular configuration to be diagnosed as holoprosencephaly. However, we believe that only patients who have a dorsal cyst in the holospheric brain should be included, and the others in the hemispheric brain, which is capable of completing hemispheric cleavage, should not. Therefore, we emphasize the importance of correctly identifying the holospheric state in the dorsal cyst malformations for diagnosing holoprosencephaly. (author)

Complex arteriovenous malformation - a case report

International Nuclear Information System (INIS)

Sirakov, S.; Penkov, M.; Marinov, M.; Kamenov, B.

2014-01-01

AVMs are composed of a network of channels interposed between feeding arteries and draining veins, without any direct shunt. Two different anatomic types of nidus may be more or less differentiated: The most frequent clinical presentations of brain AVMs are hemorrhage, seizure, chronic headache, and focal deficits not related to hemorrhage. We show a case of 27 years old female came to the hospital in heavy condition with subarachnoid hemorrhage Fisher 4. She had a history of 4 surgical operation of brain AVM in the last 10 years, without significant reduction of the malformation. After discussion of multidisciplinary team, of neuroradiologist and neurosurgeon was decided to be perform endovascular embolization, because of the better outcome for the patient. We performed endovascular treatment of the AVM with achieving subtotal embolization of malformation (90%). The patient recovery completely after 22 days and went home. For the next 18 months follow up there is no data of accidents for the patient. Key words: Arteriovenous Malformation. Subarachnoid hemorrhage. Endovascular treatment. Embolization

A rare association of rectal and genitourinary duplication and anorectal malformation

Institute of Scientific and Technical Information of China (English)

王俊; 施诚仁; 余世耀; 吴燕; 徐长辉

2003-01-01

@@ It is very rare to see multiple malformations occurring in both the urogenital and digestive systems in a case of congenital anorectal malformation. In this particular care, an imperforated anus occurred with other multiple malformations, including a double kidney, urethral duplication and rectal duplication, etc.

Clinico-roentgenological atlas of congenital malformations in human limbs

International Nuclear Information System (INIS)

Luzina, E.V.; Shakirov, Eh.A.

1990-01-01

The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L; Urhoj, S K; Kjærgaard, J

2017-01-01

Background: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Dandy-Walker malformation | Hamid | Egyptian Journal of Medical ...

African Journals Online (AJOL)

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

X-ray diagnostics of female genitals in child age

International Nuclear Information System (INIS)

Willich, E.; Benz-Bohm, G.; Koeln Univ.

1982-01-01

The experiences of special X-ray diagnostics of female genitals are described, that were made in 41 children within a period of 12 years. The superiority of the X-ray-technique arises from the impossibility of the manual examination in newborn and infants and the avoidance of diagnostic techniques like laparoscopy or laparotomy. All the examination techniques are described. In intersexualmarked patients the discrimination into six types after Shopfner is preferred. Malformations and tumours are dealt with briefly. The relations between skeleton and female genitals are pointed out at the example of the gonadal dysgenesis. (orig.) [de

Anterior foregut microbiota of the glassy-winged sharpshooter explored using deep 16S rRNA gene sequencing from individual insects.

Directory of Open Access Journals (Sweden)

Elizabeth E Rogers

Full Text Available The glassy-winged sharpshooter (GWSS is an invasive insect species that transmits Xylella fastidiosa, the bacterium causing Pierce's disease of grapevine and other leaf scorch diseases. X. fastidiosa has been shown to colonize the anterior foregut (cibarium and precibarium of sharpshooters, where it may interact with other naturally-occurring bacterial species. To evaluate such interactions, a comprehensive list of bacterial species associated with the sharpshooter cibarium and precibarium is needed. Here, a survey of microbiota associated with the GWSS anterior foregut was conducted. Ninety-six individual GWSS, 24 from each of 4 locations (Bakersfield, CA; Ojai, CA; Quincy, FL; and a laboratory colony, were characterized for bacteria in dissected sharpshooter cibaria and precibaria by amplification and sequencing of a portion of the 16S rRNA gene using Illumina MiSeq technology. An average of approximately 150,000 sequence reads were obtained per insect. The most common genus detected was Wolbachia; sequencing of the Wolbachia ftsZ gene placed this strain in supergroup B, one of two Wolbachia supergroups most commonly associated with arthropods. X. fastidiosa was detected in all 96 individuals examined. By multilocus sequence typing, both X. fastidiosa subspecies fastidiosa and subspecies sandyi were present in GWSS from California and the colony; only subspecies fastidiosa was detected in GWSS from Florida. In addition to Wolbachia and X. fastidiosa, 23 other bacterial genera were detected at or above an average incidence of 0.1%; these included plant-associated microbes (Methylobacterium, Sphingomonas, Agrobacterium, and Ralstonia and soil- or water-associated microbes (Anoxybacillus, Novosphingobium, Caulobacter, and Luteimonas. Sequences belonging to species of the family Enterobacteriaceae also were detected but it was not possible to assign these to individual genera. Many of these species likely interact with X. fastidiosa in the

The effect of fibre source on the numbers of some fibre-degrading bacteria of Arabian camel's (Camelus dromedarius) foregut origin.

Science.gov (United States)

Samsudin, Anjas Asmara; Wright, André-Denis; Al Jassim, Rafat

2014-10-01

The total bacterial community of Fibrobacter succinogenes and Ruminococcus flavefaciens in fibre-enriched culture of the foregut contents of 12 adult feral camels (Camelus dromedaries) fed on native vegetation in Australia was investigated using quantitative PCR. Foregut contents were collected postmortem, pooled and filtered before divided into two fractions. One fraction was used for extraction of DNA, while the other fraction was inoculated straight away into BM 10 contained filter paper (FP), cotton thread (CT) or neutral detergent fibre (NDF) as the sole carbohydrate sources in Hungate tubes. The tubes were incubated anaerobically at 39 °C for 1 week. After a near complete degradation of the FP and CT and extensive turbidity in the NDF, media subculturing was carried out into fresh media tubes. This was repeated twice before genomic DNA was extracted and used for quantification of bacteria. Using an absolute quantification method, the numbers of cells in 1 ml of each sample ranged from 4.07 × 10(6) to 2.73 × 10(9) for total bacteria, 1.34 × 10(3) to 2.17 × 10(5) for F. succinogenes and 5.78 × 10(1) to 3.53 × 10(4) for R. flavefaciens. The mean cell number of F. succinogenes was highest in the FP enrichment medium at approximately 107-fold, whereas for the R. flavefaciens targeted primer, the NDF enrichment media had the highest mean cell number at approximately 4-fold when compared to the rumen content. The data presented here provide evidence of fibre type preference by the two main fibre-degrading bacteria and would help us understand the interaction between fibre type and fibre-degrading microorganisms, which has ramification on camel nutrition at different seasons and environments.

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

Science.gov (United States)

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

2006-01-01

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

Congenital Malformations in River Buffalo (Bubalus bubalis)

Science.gov (United States)

Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

2017-01-01

Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

Evaluation of an in vitro system to simulate equine foregut digestion and the influence of acidity on protein and fructan degradation in the horse's stomach.

Science.gov (United States)

Strauch, S; Wichert, B; Greef, J M; Hillegeist, D; Zeyner, A; Liesegang, A

2017-06-01

The aim of this study was to improve an in vitro system in order to gather optimized information on the digestion of different forages in the horse's upper gastrointestinal tract. Therefore, foregut digestion of several forages was simulated in vitro (Part 1). The effect of different pH values on in vitro fructan degradation of two selected grasses (Part 2) was tested subsequently. Part 1: We hypothesized that our system produces representative results simulating digestive processes in the upper alimentary tract, but neglects microbial fermentation. In vitro digestion of six forages (grass mixture for horses, grass mixture for cows (GMC), tall fescue, English perennial ryegrass (ER), white clover, lucerne) was performed in two phases with pepsin and pancreatin. The results are consistent with current data from in vivo studies, including a degradation of crude protein and monosaccharides as well as a relative increase in fibres. Interestingly, a loss of fructan was measured in two feedstuffs (ER/GMC: 4.1/4.4% DM fructan before and 0.59/0.00% DM after simulated foregut digestion). Part 2: As fructans are thought not to be fragmented by digestive enzymes, another hypothesis was developed: acidic hydrolysis leads to a degradation of fructans. To evaluate the influence of gastric pH on the digestion of fructan and protein, different pH values (2, 3 and 4) were adjusted in a second series of in vitro foregut digestion trials with ER and GMC. As expected, the highest degradation of protein was seen at the lowest pH (protein in ER/GMC at pH 2: 6.11/8.28% DM and at pH 4: 7.73/10.64% DM), whereas fructan degradation was highest at pH 4 (fructan in ER/GMC at pH 2: 1.63/1.95% DM and at pH 4: 1.31/0.91% DM). We presume that not only acidic hydrolysis but also plant enzymes cause the loss of fructans in an acidic environment. Journal of Animal Physiology and Animal Nutrition © 2017 Blackwell Verlag GmbH.

Lymphatic malformations: a proposed management algorithm.

LENUS (Irish Health Repository)

Oosthuizen, J C

2012-02-01

OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

Congenital cervical bronchogenic cyst: A case report

Directory of Open Access Journals (Sweden)

Kiralj Aleksandar

2015-01-01

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

Prevalence of Congenital Malformations

Directory of Open Access Journals (Sweden)

Akhavan Karbasi Sedighah

2009-05-01

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

Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

Science.gov (United States)

Raghunath, Azhwar; Perumal, Ekambaram

2018-01-01

The versatility offered by zebrafish (Danio rerio) makes it a powerful and an attractive vertebrate model in developmental toxicity and teratogenicity assays. Apart from the newly introduced chemicals as drugs, xenobiotics also induce abnormal developmental abnormalities and congenital malformations in living organisms. Over the recent decades, zebrafish embryo/larva has emerged as a potential tool to test teratogenicity potential of these chemicals. Zebrafish responds to compounds as mammals do as they share similarities in their development, metabolism, physiology, and signaling pathways with that of mammals. The methodology used by the different scientists varies enormously in the zebrafish embryotoxicity test. In this chapter, we present methods to assess lethality and malformations during zebrafish development. We propose two major malformations scoring systems: binomial and relative morphological scoring systems to assess the malformations in zebrafish embryos/larvae. Based on the scoring of the malformations, the test compound can be classified as a teratogen or a nonteratogen and its teratogenic potential is evaluated.

[Contribution of pelvic echography to the diagnosis of malformations of the utero-vaginal tract].

Science.gov (United States)

Ellart, D; Houze de l'Aulnoit, H; Corette, L; Delcroix, M; Brabant, G

1990-01-01

Pelvic ultrasound has become very important in the diagnostic planning of utero-vaginal malformations. Having studies 93 congenital malformations of the utero-vaginal tract, the authors used ultrasound investigations as a first or second line of approach. They are able to describe the way ultrasound can be used for each type of malformation. Ultrasound is undeniably reliable for diagnosing bilateral incomplete aplasia of the uterus; so avoiding the need for laparoscopy. When failure of the uterus to develop on one side occurs it is possible to look for a closed or canalized rudimentary uterine nodule to confirm the diagnosis of a pseudo-unicorn uterus. The diagnosis by ultrasound of a bifid uterus shows up by the appearance of a "V" shape on the bladder. An intra-uterine septum can be diagnosed according to how serious the embryological abnormality is on ultrasound. Similarly the difference between a bicornuate uterus that is really just arcuate or partially septate cannot always be made with ultrasound because the embryological defect is a relatively minor one. Ultrasound examination is able to give a lot of information in diagnosing and calculating how much of the menstrual fluid is held back either on one side or completely. Its value is less when the two sides of the uterus communicate with one another. Although this way of examining patients may make it possible quite often to avoid carrying out hysterosalpingogram and laparoscopy, its greatest value is found when all methods of diagnosis are combined and interpreted in the context of a clinical situation.

ECOLOGICALLY DETERMINED MALFORMATIONS IN CHILDREN IN THE ULYANOVSK REGION

Directory of Open Access Journals (Sweden)

Elizaveta Grigoryevna Panchenko

2018-03-01

Full Text Available Currently particularly relevant is the interaction between ecology and people. The study had been carried to examine the correlation of congenital malformations from the residence. The analysis showed that increasing concentrations of heavy metals (lead, cadmium, and chromium in soil and air in some districts of the Ulyanovsk region correlates with a large number of congenital malformations in children, in contrast to those areas, where their content does not excees MPC, which allows to consider imbalance of trace elements as a possible factor in the development of congenital malformations.

Evaluation of magnetic resonance imaging of Arnold-Chiari malformation

Energy Technology Data Exchange (ETDEWEB)

Yoshino, Kimihiro; Suga, Masakazu; Takemoto, Motohisa

1987-06-01

We evaluated the usefulness of magnetic resonance imaging (MRI) in the diagnosis of the Arnold-Chiari malformation. The patient, a 52-year-old man, complained of dizziness on walking. He initially refused to undergone myelography, but 4 months later, underwent MRI test, which lead to the diagnosis of Arnold-Chiari malformation (I type). Not all patients with symptoms of Arnold-Chiari malformation, syringomyelia, syringobulbia and cervical spinal tumor, undergone myelography, which is an invasive technique, therefore MRI should be the first examination for the patients with disorders involving the craniocervical junction.

MR imaging evaluation of congenital malformation of the spine

International Nuclear Information System (INIS)

Byrd, S.E.; Radkowski, M.A.; McLone, D.G.; Storrs, B.B.

1988-01-01

One hundred fifty children with congenital malformations of the spine were studied with MR imaging, US, and water-soluble myelography with CT. The malformations encountered included myelomeningoceles and Chiari II malformations, diastematomyelia, hydromyelia, arachnoid cyst, dermal sinus and dermoid, spinal lipomas and teratomas, tight filum terminale, anterior sacral meningoceles, lipomyelomeningoceles, myelocystocele, and severe scoliosis. MR imaging was the most effective modality in delineating these abnormalities. At times, real-time US and water-soluble CT myelography were required as adjuncts to MR imaging in delineating subtle spinal cord tethering, arachnoid cyst, diastematomyelia, and severe scoliosis

MRI findings of intracranial cavernous malformations

International Nuclear Information System (INIS)

Han, Byoung Hee; Kim, Dong Ik; Cho, Yong Kuk

1995-01-01

To analyze the variable MRI features and clinical significance of intracranial cavernous malformations. Forty patients(mean age 35.4) with cavernous malformation were evaluated by MRI. Eleven patients were surgically confirmed. Cavernous malformations were divided into four categories on the basis of the MR imaging characteristics, especially on T2-weighted image. Type I lesion was defined as an extralesional subacute hemorrhage outside the low signal rim, type II as an intralesional hemorrhage surrounded by low signal rim, type III lesion as an intralesional thrombosis with variegated central core surrounded by low signal rim, and type IV lesion as a focal old hemorrhagic core with small low signal intensity. Type IV was further divided into IVa and IVb, whether the lesion has small iso-or hypersignal central core (IVa) or not (IVb). Follow-up MRI was evaluated in 12 patients who were managed conservatively. Follow-up intervals ranged from 2 weeks to 29 months (mean 6 months). Total 80 lesions were detected in 40 patients. Multiple lesions were noted in 10 patients. The topography of the cavernous malformations was supratentorial in 75% and infratentorial in 23%. There were 10 lesions in type I, 15 in type II, 21 in type III, 14 in type IVa, and 20 in type IVb. Type I lesions mainly showed mass effect and edema. Type III lesions showed minimal contrast enhancements in 7 lesions on delayed images. Type II lesions showed the characteristics of both type I and type III lesions. On follow up images, decrease in size in 5, change of type in 7, rebleeding in 2 and no change in 12 lesions were demonstrated. Hemorrhage, edema and mass effect were combined in the cases of rebleeding. On follow-up study, the estimated risk of bleeding was 32.3%/person-year and 13.7%/lesion-year. Cavernous malformations show as variable appearance, on MR imaging suggesting variable stages of evolution. The MR morphologic classification and evaluation of secondary findings are helpful to

Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

Science.gov (United States)

Mery, Carlos M; De León, Luis E; Rodriguez, J Rubén; Nieto, R Michael; Zhang, Wei; Adachi, Iki; Heinle, Jeffrey S; Kane, Lauren C; McKenzie, E Dean; Fraser, Charles D

2017-11-01

The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group. Patients were matched by diagnosis, procedure, history of prematurity, presence of genetic syndrome, and a propensity score including weight and year of operation. The cohort included 383 patients: 52 (14%) with thoracic GI malformations and 98 (25%) thoracic GI controls, 80 (21%) with abdominal GI malformations and 153 (40%) abdominal GI controls. Median follow-up was 6 years (range, 16 days to 20 years). Patients with thoracic GI malformations had longer length of stay (p malformations and controls. Patients with thoracic GI malformations have worse perioperative outcomes than controls, but their long-term survival does not seem to be significantly different. Abdominal GI malformations do not have a significant effect on outcomes. The presence of GI malformations should likely not preclude patients from undergoing congenital heart operations, but careful family counseling is necessary, especially for thoracic GI malformations. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Imaging of head and neck venous malformations

International Nuclear Information System (INIS)

Flis, Christine M.; Connor, Stephen E.

2005-01-01

Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team. (orig.)

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

NARCIS (Netherlands)

French, Vanessa M.; van de Laar, Ingrid M. B. H.; Wessels, Marja W.; Rohe, Christan; Roos-Hesselink, Jolien W.; Wang, Guangliang; Frohn-Mulder, Ingrid M. E.; Severijnen, Lies-Anne; de Graaf, Bianca M.; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A.; Willemsen, Rob; Devriendt, Koen; Belmont, John W.; Oostra, Ben A.; Amack, Jeffrey D.; Bertoli-Avella, Aida M.

2012-01-01

Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To identify genetic

NPHP4 variants are associated with pleiotropic heart malformations.

NARCIS (Netherlands)

French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.

2012-01-01

RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic

Morbidity rate due to renal malformations in patients from Las Tunas province

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Silvio Laffita Estévez

2015-09-01

Full Text Available Background: The urogenital congenital malformations represent the first place within the genetic malformations in the province of Las Tunas.Objective: To characterize the renal congenital malformations in pediatric patients of the herein mentioned province, from 2010 to 2014.Methods: A descriptive study was carried out with 283 paediatric patients with renal and urinary tract congenital malformation, in the province and period herein stated. The variables included: sex, clinical manifestations, more frequent malformations, which of them needed surgical treatment, the positive results of the radiological studies, and the malformations that developed into chronic renal failure. The data were analyzed according to descriptive statistics.Results: The male sex represented a 63,96 %. A 57,95 % of the children were asymptomatic. Within the congenital malformations ectasia prevailed with a 49,47 %. 100 % of the cases with a compromise of the ureteovesiccal union, ureterocele and shell of the posterior urethra, 78 % of the patients with stenosis of the ureteropyelic union and 4,76 % of the patients with vesicoureteric reflux needed surgical treatment. The radiological studies were highly positive. 1,41 % of the patients developed chronic renal failure.Conclusions: Most of the patients with renal and urinary tract congenital malformations were diagnosed before the 5 years of age. Only four patients developed chronic renal failure.

Antidepressant exposure during early pregnancy and congenital malformations

DEFF Research Database (Denmark)

Pedersen, Lars Henning

are reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression......Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss...... the clinical significance. Most information on malformations in humans is derived from epidemiological studies. The strengths and limitations of the different designs need careful consideration, including issues of confounding by indication, recall bias, and power. For most antidepressants existing data...

Prenatal deaths and external malformations caused by x-irradiation during the preimplantation period of ddy mice

International Nuclear Information System (INIS)

Ro, Hee Jeong; Choi, Ihl Bhong; Gu, Yeun Wha

1998-01-01

only preimplantation deaths and embryonic deaths but also external malformations. In addition, external malformations were observed in our experiments at diagnostic doses, including 0.1 and 0.5 Gy. For this reason, we recommend that irradiation should be avoided during the preimplantation period by applying Rugh's 10-day rule

Is drug insurance status an effect modifier in epidemiologic database studies? The case of maternal asthma and major congenital malformations.

Science.gov (United States)

Blais, Lucie; Kettani, Fatima-Zohra; Forget, Amélie; Beauchesne, Marie-France; Lemière, Catherine

2015-12-01

Our previous work on the association between maternal asthma and congenital malformations was based on cohorts formed by women with public drug insurance, i.e., over-represented by women with lower socioeconomic status, questioning the generalizability of our findings. This study aimed to evaluate whether or not drug insurance status, as a proxy of socioeconomic status, is an effect modifier for the association between maternal asthma and major congenital malformations. A cohort of 36,587 pregnancies from asthmatic women and 198,935 pregnancies from nonasthmatic women selected independently of their drug insurance status was reconstructed with Québec administrative databases (1998-2009). Asthmatic women were identified using a validated case definition of asthma. Cases of major congenital malformations were identified using diagnostic codes recorded in the hospitalization database. Drug insurance status at the beginning of pregnancy was classified into three groups: publicly insured with social welfare, publicly insured without social welfare, and privately insured. Adjusted odds ratios were estimated with generalized estimation equations, including an interaction term between maternal asthma and drug insurance status. The prevalence of congenital malformations was 6.8% among asthmatic women and 5.8% among nonasthmatics. The impact of asthma on the prevalence of congenital malformations was significantly greater in women publicly insured with social welfare (odds ratio = 1.42; 95% confidence interval, 1.25-1.61) than in the other two groups ([odds ratio = 1.10; 1.00-1.21] in the publicly insured without social welfare and [odds ratio = 1.13; 1.07-1.20] in the privately insured group). The increased risk of major congenital malformation associated with asthma was significantly higher among pregnant women publicly insured with social welfare than among those privately insured. As a result of this effect modification by drug insurance status, findings

[Epidemiological analysis of selected congenital limb malformations in Hengyang].

Science.gov (United States)

Li, Na-Na; Yuan, Yu-Mei; Liu, Yong; Dai, Li; Deng, Chang-Fei; Nie, Xing-Hui; Zheng, Xiang-Chi; Hu, Yan-Zhen; Liu, Yun-Rong

2013-07-01

To describe the epidemiological characteristics of selected congenital limb malformations (CLM) in newborns of Hengyang. During the period of 2008-2010, cluster sampling survey was adopted to investigate the congenital limb malformations of neonates born to women resident in Hengyang, including Nanyue District, Zhuhui District, Changning City and Hengshan County. Each newborn was examined for the screening of CLM after birth. Limb malformations were grouped into the isolated (ILM) and the syndromic (SLM) form, depending on associated malformations of the affected. Prevalence rates, CLM spectrum and clinical manifestations were analyzed. A total of 170 CLM cases were identified among 52,307 newborns during the study period, resulting overall rate of 32.50/10(4). The rates for isolated and syndromic CLM were 28.29 and 4.21 per 10 000 births respectively. The rates for polydactyly, congenital talipes equinovarus, syndactyly and limb reduction defects were 13.00/10(4), 9.56/10(4), 5.16/10(4) and 3.63/10(4), respectively. No significant difference in rates of overall CLM or specified CLM was observed across urban-rural, gender and maternal age groups. Of the cases affected by polydactyly, syndactyly and limb reduction defects, malformation involved upper limbs, lower limbs and the both accounted for 68.14%, 14.16% and 17.70%. Preterm birth, low birth-weight, still birth and neonatal death were observed more frequently in syndromic cases than in isolated patients. The high CLM prevalence rate and fatality rate in Hengyang suggest that effective measures should be taken to prevent malformations and to improve survival of the affected.

Posterior fossa malformations: main features and limits in prenatal diagnosis

Energy Technology Data Exchange (ETDEWEB)

Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

2010-06-15

Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

Urogenital tract anomalies in children with congenital anorectal malformation

NARCIS (Netherlands)

J.W. Hoekstra

1991-01-01

textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

About kinetics of paramagnetic radiation malformations in beryllium ceramics

International Nuclear Information System (INIS)

Polyakov, A.I.; Ryabinkin, Yu.A.; Zashkvara, O.V.; Bitenbaev, M.I.; Petukhov, Yu.V.

1999-01-01

This paper [1] specifies that γ-radiation of the beryllium-oxide-based ceramics results in development of paramagnetic radiation malformations emerging the ESR spectrum in form of doublet with the splitting rate of oestrasid Δ∼1.6 and g-factor of 2.008. This report presents evaluation outcomes of dependence of paramagnetic radiation malformations concentration in beryllium ceramics on gamma-radiation dose ( 60 Co) within the range of 0-100 Mrad. Total paramagnetic parameters of beryllium ceramics in the range 0-100 Mrad of gamma-radiation dose varied slightly, and were specified by the first type of paramagnetic radiation malformations

The role of MRI in suspected inner ear malformations

International Nuclear Information System (INIS)

Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

2003-01-01

Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

Effects of Co60 gamma radiation on Biomphalaria glabrata (Say, 1818) Embryo. II. Malformations

International Nuclear Information System (INIS)

Okazaki, K.; Kawano, T.

1990-01-01

The morphogenetic effects of ionizing radiation were investigated in Biomphalaria glabrata embryos irradiated in the cleavage, blastula, gastrula, young trochophore and trochophore stages with 5 to 25 Gy doses of 60 CO gamma radiation. The number of malformed embryos rapidly increased with increasing radiation dose, reaching a maximum between 5th to 8th day after irradiation in all stages analyzed. Susceptibility to malformation induction was higher the younger than the age of the irradiated embryo. However, for the cleavage stage the frequency of malformed embryos was inversely proportional to radiation dose for the same radiation dose. Several types of morphogenetic malformations were obtained, among then cephalic malformations, exogastrula, shell malformations and embryos with everted stomodeum, unspecific malformations being the most frequent. The results show that the types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied [pt

Classification of Cortical Brain Malformations

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J Gordon Millichap

2008-03-01

Full Text Available Clinical, radiological, and genetic classifications of 113 cases of malformations of cortical development (MCD were evaluated at the Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.

Angiographic treatment of the arteriovenous malformation occurred after caesarean section

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Selim Büyükkurt

2009-03-01

Full Text Available INTRODUCTION: Uterine arteriovenous malformations are classified as acquired or congenital. Caesarean section which is performed more frequently on nowadays, uterine curettage and other uterine surgeries are the most common causes of the acquired arteriovenous malformations. CASE: Twenty-two years old woman delivered her second child by caesarean section, due to history of caesarean section, was admitted with complaint of profuse vaginal bleeding 15 days after the surgery. She demonstrated the clinical features of the hypovolemic shock. At first she treated with four units of red blood suspension, two units of fresh frozen plasma and rapid infusion of the fluids. On endometrial curettage only blood and coagulum were obtained. The bleeding could only be controlled by the internal pressure of the 18 F Foley catheter. Doppler analyze of the uterus revealed a vascular malformation signifying a turbulent flow pattern with low pressure and high flow rate. A unilateral uterine artery embolization was performed her and her menstruel cycles are resumed at the fifth month of the puerperium. DISCUSSION: The clinical presentation of the uterine arteriovenous malformations depends on the localization and the dimensions of the malformation. The uterine arteriovenous malformation should be kept in mind in cases of late occurrence vaginal bleeding unresponsive to the uterotonic medications, especially in a woman with previous history of uterine damage, such as curettage or caesarean section.

Screening for pulmonary arteriovenous malformations

DEFF Research Database (Denmark)

Oxhøj, H; Kjeldsen, A D; Nielsen, G

2000-01-01

Pulmonary arteriovenous malformations (PAVM) cause right-to-left shunt and imply risk of paradoxical embolism and cerebral abscess. These complications can be prevented by appropriate treatment. Detection of PAVMs is therefore important, so simple and reliable screening methods are needed...... for this purpose. The aim of this investigation was to compare pulse oximetry and contrast echocardiography as screening tools for detection of pulmonary arteriovenous malformations. Eighty-five hereditary haemorrhagic telangiectasia (HHT) patients and first-degree relatives identified in a comprehensive study...... echocardiography with intravenous injection of echo contrast was performed in all subjects. Outcome measures were oxygen saturation change >2% units on changing body position and echo contrast observed in the left-sided heart chambers. Positive contrast echocardiography indicating the presence of PAVM was found...

Multiple congenital skeletal malformations in a lamb associated with ...

African Journals Online (AJOL)

Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

Energy Technology Data Exchange (ETDEWEB)

Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in; Mammen, Suraj, E-mail: surajmammen77@gmail.com [Christian Medical College, Department of Radiology (India); David, Sarada, E-mail: saradadavid@gmail.com [Christian Medical College, Department of Ophthalmology (India); Sen, Sudipta, E-mail: paedsur@cmcvellore.ac.in [Christian Medical College, Department of Pediatric Surgery (India)

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.

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

International Nuclear Information System (INIS)

Chiramel, George Koshy; Keshava, Shyamkumar Nidugala; Moses, Vinu; Mammen, Suraj; David, Sarada; Sen, Sudipta

2015-01-01

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

Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

International Nuclear Information System (INIS)

Alorainy, Ibrahim A.

2006-01-01

More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

Treatment of arteriovenous malformations with stereotactic radiosurgery employing both magnetic resonance angiography and standard angiography as a database

International Nuclear Information System (INIS)

Petereit, D.; Mehta, M.; Turski, P.; Levin, A.; Strother, C.; Mistretta, C.; Mackie, R.; Gehring, M.; Kubsad, S.; Kinsella, T.

1993-01-01

Twenty-one arteriovenous malformations were prospectively evaluated using magnetic resonance angiography, compare it to stereotactic angiography, employ magnetic resonance angiography in follow-up, and semiquanitfy flow. A correlative evaluation between flow and response to stereotactic radiosurgery was carried out. Phase contrast angiograms were obtained at flow velocities of 400, 200, 100, 60 and 20 cm/sec. The fractionated velocities provided images that selectively demonstrated the arterial and venous components of the arteriovenous malformations. Qualitative assessment of the velocity within the arteriovenous malformations and the presence of fistulae were also determined by multiple velocity images. In addition, 3-dimensional time-of-flight magnetic resonance angiograms were obtained to define the exact size and shape of the nidus. This technique also permitted evaluation of the nidus and feeding arteries for the the presence of low flow aneurysms. Correlation between the two imaging modalities was carried out by subjective and semiquantitative estimation of flow velocity and estimation of nidus size. The following velocity parameters were employed: fast, intermediate, slow, and none. Early analysis suggests that slower flowing arteriovenous malformations may obliterate faster after stereotactic radiosurgery an flow parameters should be employed to predict response. In conclusion, magnetic resonance angiography permits semiquantitative flow velocity assessment and may therefore be superior to stereotactic angiography. An additional advantage of magnetic resonance angiography is the generation of serial transverse images which can replace the conventional CT scan employed for stereotactic radiosurgery treatment planning. A single diagnostic test may therefore be used for diagnosis, radiosurgical treatment planning, follow-up, and treatment selection by identifying patients likely to respond early to radiosurgical management

Protective effect of selenium against ionizing radiation-induced malformations in mice

Energy Technology Data Exchange (ETDEWEB)

Cekan, E.; Tribukait, B.; Vokal-Borek, H.

A single dose of sodium selenite (0.5 mg Se/kg b.w.) was injected intraperitoneally into mice on day 9 of pregnancy, either 30 min or 2 h before 1.75 Gy whole body irradiation. Administration of selenite 2 h but not 30 min before irradiation resulted in a significant decrease in the number of malformed foetuses (p < 0.005). The decrease in foetal malformations occurred proportionally for all the major malformations observed, i.e. short or kinked tail, rib and vertebral malformations, coloboma and deformation of retina and iris. In addition, selenium pretreatment also protected against radiation-induced retardation of the sternum of the foetus.

Protective effect of selenium against ionizing radiation-induced malformations in mice

International Nuclear Information System (INIS)

Cekan, E.; Tribukait, B.; Vokal-Borek, H.; Stockholm Univ.

1985-01-01

A single dose of sodium selenite (0.5 mg Se/kg b.w.) was injected intraperitoneally into mice on day 9 of pregnancy, either 30 min or 2 h before 1.75 Gy whole body irradiation. Administration of selenite 2 h but not 30 min before irradiation resulted in a significant decrease in the number of malformed foetuses (p<0.005). The decrease in foetal malformations occurred proportionally for all the major malformations observed, i.e. short or kinked tail, rib and vertebral malformations, coloboma and deformation of retina and iris. In addition, selenium pretreatment also protected against radiation-induced retardation of the sternum of the foetus. (orig.)

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

Energy Technology Data Exchange (ETDEWEB)

Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

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.

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

International Nuclear Information System (INIS)

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

2013-01-01

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.

Terminal hemimyelocystocele associated with Chiari II malformation

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Umamaheswara Reddy V.

2014-06-01

Full Text Available Terminal myelocystocele (TMC results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.

Diagnostic ultrasound in pregnancy - ethical problems

International Nuclear Information System (INIS)

Sande, H.A.

1991-01-01

Foetal diagnostics has changed prenatal checkups beyond the point of no return. The practice of offering ultrasound screening involves great responsibility. Routine ultrasound screening requires a high level of competency. Four main ethical issues are discussed; life or death, malformations, the foetus as patient, and the feotus as donor. Other issues discussed are verifying the diagnosis of death, how to inform the parents, procedures in connection with pathological findings, procedures in connection with stillbirth, and the legal rights of the foetus, as well as three recommendations focussing on the above-mentioned issues. 9 refs

Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets.

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Claire L Shovlin

Full Text Available BACKGROUND: Pulmonary first pass filtration of particles marginally exceeding ∼7 µm (the size of a red blood cell is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in the preceding cardiac cycle to lodge safely in pulmonary capillaries/arterioles. Pulmonary arteriovenous malformations compromise capillary bed filtration, and are commonly associated with ischaemic stroke. Cohorts with CT-scan evident malformations associated with the highest contrast echocardiographic shunt grades are known to be at higher stroke risk. Our goal was to identify within this broad grouping, which patients were at higher risk of stroke. METHODOLOGY: 497 consecutive patients with CT-proven pulmonary arteriovenous malformations due to hereditary haemorrhagic telangiectasia were studied. Relationships with radiologically-confirmed clinical ischaemic stroke were examined using logistic regression, receiver operating characteristic analyses, and platelet studies. PRINCIPAL FINDINGS: Sixty-one individuals (12.3% had acute, non-iatrogenic ischaemic clinical strokes at a median age of 52 (IQR 41-63 years. In crude and age-adjusted logistic regression, stroke risk was associated not with venous thromboemboli or conventional neurovascular risk factors, but with low serum iron (adjusted odds ratio 0.96 [95% confidence intervals 0.92, 1.00], and more weakly with low oxygen saturations reflecting a larger right-to-left shunt (adjusted OR 0.96 [0.92, 1.01]. For the same pulmonary arteriovenous malformations, the stroke risk would approximately double with serum iron 6 µmol/L compared to mid-normal range (7-27 µmol/L. Platelet studies confirmed overlooked data that iron deficiency is associated with exuberant platelet aggregation to serotonin (5HT, correcting following iron treatment. By MANOVA, adjusting for participant and 5HT, iron or ferritin explained 14% of the variance in log-transformed aggregation-rate (p = 0

Generation of Distal Airway Epithelium from Multipotent Human Foregut Stem Cells.

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Hannan, Nicholas R F; Sampaziotis, Fotios; Segeritz, Charis-Patricia; Hanley, Neil A; Vallier, Ludovic

2015-07-15

Collectively, lung diseases are one of the largest causes of premature death worldwide and represent a major focus in the field of regenerative medicine. Despite significant progress, only few stem cell platforms are currently available for cell-based therapy, disease modeling, and drug screening in the context of pulmonary disorders. Human foregut stem cells (hFSCs) represent an advantageous progenitor cell type that can be used to amplify large quantities of cells for regenerative medicine applications and can be derived from any human pluripotent stem cell line. Here, we further demonstrate the application of hFSCs by generating a near homogeneous population of early pulmonary endoderm cells coexpressing NKX2.1 and FOXP2. These progenitors are then able to form cells that are representative of distal airway epithelium that express NKX2.1, GATA6, and cystic fibrosis transmembrane conductance regulator (CFTR) and secrete SFTPC. This culture system can be applied to hFSCs carrying the CFTR mutation Δf508, enabling the development of an in vitro model for cystic fibrosis. This platform is compatible with drug screening and functional validations of small molecules, which can reverse the phenotype associated with CFTR mutation. This is the first demonstration that multipotent endoderm stem cells can differentiate not only into both liver and pancreatic cells but also into lung endoderm. Furthermore, our study establishes a new approach for the generation of functional lung cells that can be used for disease modeling as well as for drug screening and the study of lung development.

Cerebral cavernous malformations. Serial magnetic resonance imaging findings in patients with and without gamma knife surgery

International Nuclear Information System (INIS)

Yoon Pyeong-Ho; Kim, Dong-Ik; Jeon Pyoung; Ryu, Young-Hoon; Hwang, Geum-Joo; Park, Sang-Joon

1998-01-01

To classify the cerebral cavernous malformations and to investigate the natural history of cavernous malformations according to the classification, 41 patients with 61 cavernous malformations (40 cavernous malformations from 22 patients treated with gamma knife surgery) were regularly followed up using MR imaging for a mean period of 25.5 months in treated cavernous malformations and 20.7 months in untreated cavernous malformations, respectively. Cavernous malformations were classified into four types. Follow-up MR images were analyzed to evaluate changes in size, signal intensity, rebleeding, and perilesional adverse reaction of irradiation. A total of 61 cavernous malformations including 17 in type I, 23 in type II, 10 in type III, and 11 in type IV showed usual degradation of blood product in 22 cavernous malformations, no change in shape and signal intensity in 31 cavernous malformations, and eight cavernous malformations with rebleedings in the serial MR images. In these eight cavernous malformations with rebleedings, six occurred in type II and two in type III, but none in type I or IV. Rebleedings were more frequent in type II than in other types. Adverse reaction of irradiation was observed in five of 22 patients treated with gamma knife surgery. Although most cerebral cavernous malformations showed evolution of hemorrhage or no change in size or shape on follow-up MR images, cerebral cavernous malformations represented as mixture of subacute and chronic hemorrhage with hemosiderin rim (type II) have a higher frequency to rebleed than other types of cerebral cavernous malformations. Cerebral cavernous malformations represented as hemosiderin deposition without central core (type IV) have a lower tendency to rebleed than other types and do not need any treatment. Most of the adverse reaction of irradiation after gamma knife surgery around cavernous malformations are transient findings and are considered to be perilesional edema. (K.H)

Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

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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...

Congenital ossicular malformation. A study of 27 ears

International Nuclear Information System (INIS)

Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

2010-01-01

Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

CT, MRI and MRA of cerebrovascular malformations (report of 16 cases)

International Nuclear Information System (INIS)

Ding Qingguo; Hu Chunhong; Guo Liang; Ding Yi

2000-01-01

Objective: To evaluate the value of CT, MRI and MRA in cerebrovascular malformations. Methods: 16 cases of cerebrovascular malformations were confirmed by angiography and pathology, including 12 cases of arteriovenous malformations, 4 cases of cavernous angiomas. All of these cases were performed with CT, MRI non-contrast scan and 3D-TOF MRA. Results: CT appearances of AVM were mixed density with hypo-density, iso-density or hyper-density. Some had calcification or acute hemorrhage. MRI scan showed the dilated and tortuous nidus of AVMs on T 1 WI and T 2 WI. The appearances of hemorrhage were variable. Feeding arteries and draining veins were showed clearly on MRA. The typical sign of cavernous angiomas was mixed signals with hypointensity ring on MRI, while MRA could not provide much information. Conclusions: CT, MRI and MRA had different value in diagnosis of cerebrovascular malformations. CT combined with MRI and MRA could sharply improve the accuracy of diagnosis, and aid in the comprehensive evaluation of cerebrovascular malformations

Congenital Malformations Associated with Maternal Diabetes

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Chih-Ping Chen

2005-03-01

Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

Developmental malformations of the cerebral cortex

International Nuclear Information System (INIS)

Reiss-Zimmermann, Martin; Weber, D.; Sorge, I.; Hirsch, W.; Merkenschlager, A.

2010-01-01

Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

Surgical excision of a cerebral arteriovenous malformation in a dog

International Nuclear Information System (INIS)

Thomas, W.B.; Schueler, R.O.; Kornegay, J.N.

1995-01-01

A 7-year-old dog was presented with seizures and epistaxis. Computed tomography showed a contrast-enhancing lesion in the cerebrum. An arteriovenous malformation was identified at surgery and resected. A discussion of intracranial arteriovenous malformation is presented

Magnetic resonance venography of congenital vascular malformations of the extremities

International Nuclear Information System (INIS)

Laor, T.; Burrows, P.E.; Hoffer, F.A.

1996-01-01

Contrast angiography can demonstrate the vascular components of a vascular malformation, but can be technically challenging in small patients with complex venous anomalies. We reviewed the role of magnetic resonance venography (MRV) in the evaluation of children with predominantly low-flow, vascular malformations of the extremities. MRV (2D time-of-flight technique) and magnetic resonance (MR) imaging examinations were performed in ten young patients with congential predominantly low-flow vascular malformations of the extremities. MR imaging was used to characterize and determine the extent of the malformations, and MRV to evaluate the deep and superficial venous channels. In all patients, MRV studies were reviewed in conjunction with contrast angiograms, considered the gold standard, to confirm the findings. All signficant channel anomalies seen with contrast angiography were identified with MRV. In addition, MRV demonstrated some veins that were not intentionally opacified during contrast studies. MRV demonstrates both the superficial and deep conducting veins, whereas contrast angiography is a more directed study, evaluating only those channels intentionally opacified. Together, MR imaging and MRV data can non-invasively form the basis for determining the prognosis and choosing the individual treatment of congenital vascular malformations of the extremities. (orig.)

Perinatal risk factors including malformation

International Nuclear Information System (INIS)

Brachner, A.; Grosche, B.

1991-10-01

The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project 'Radiobiological environmental monitoring in Bavaria' is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG) [de

Is the diagnostic yield influenced by the indication for fetal autopsy?

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Puri, Ratna Dua; Kotecha, Udhaya; Lall, Meena; Dash, Pratima; Bijarnia-Mahay, Sunita; Verma, Ishwar Chander

2016-08-01

The utility of fetal autopsy to corroborate antenatal ultrasound findings and to aid genetic counseling is well known. However, the ability to identify an underlying cause for the common indications for which it is performed is not well studied. This study aimed to determine if the diagnostic yield of fetal autopsy in identifying the underlying cause is determined by the indication of the autopsy. Five groups of fetuses were defined based on the indication for the autopsy performed in 903 cases: (i) malformations, (ii) intrauterine death (IUD), (iii) cystic hygroma and hydrops fetalis, (iv) isolated abnormalities of amniotic fluid, and (v) intrauterine growth restriction (IUGR). The highest diagnostic yield was in fetuses with isolated abnormalities of amniotic fluid (77%), followed by those with IUGR (75%), with IUD (69.6%), those in group five (55.2%) and lowest (45%) in fetuses with malformations (P autopsy related its common indications, can be utilized to counsel families of the utility of autopsy to establish cause and recurrence risks and thereby assist then to make an informed decision to consent for the procedure. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Congenital Malformations in River Buffalo (Bubalus bubalis

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Sara Albarella

2017-02-01

Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

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Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

2011-11-01

One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, Pmalformations (Pmalformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations, polydactyly and syndactyly remain stable. The incidence of hydrocephalus shows a downward trend.

Transcatheter arterial ethanol embolization for congenital renal arteriovenous malformations

International Nuclear Information System (INIS)

Wang Jingbing; Wang Han; An Xiao; Wang Linchuan; Gao Liqiang; Zhou Zhiguo; Zhang Guixiang

2010-01-01

Objective: To discuss the effect and safety of trans-microcatheter arterial embolization with ethanol for the treatment of congenital renal arteriovenous malformations. Methods: Clinical data of 11 patients with congenital renal arteriovenous malformations manifested mainly as gross hematuria were retrospectively analyzed. Selective renal angiography was performed in all 11 patients. After the diagnosis was confirmed, super-selective catheterization of the diseased arteries was carried out and the trans-microcatheter arterial embolization with ethanol was conducted. Results: A total of 12 procedures were completed in 11 patients. The ethanol dose used in one procedure was 5-25 ml. Successful embolization of the congenital renal arteriovenous malformations was obtained in all patients. The gross hematuria disappeared within 24-48 hours after the treatment. Lumbago at treated side, low fever, abdominal distension, nausea, vomiting, etc. occurred within one week and no other serious complications developed. During the follow-up period lasting for 4-96 months, no recurrence of hematuria was observed and the renal function remained normal. Conclusion: Transcatheter arterial ethanol embolization is an economic, safe and effective treatment for congenital renal arteriovenous malformations. (authors)

Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

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Olow-Nordenram, M.A.K.; Raadberg, C.T.

1984-01-01

Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage. (orig.)

Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

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Olow-Nordenram, M.A.K.; Raadberg, C.T.

1984-01-01

Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

Classification and Current Management of Inner Ear Malformations

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Levent Sennaroğlu

2017-10-01

Full Text Available Morphologically congenital sensorineural hearing loss can be investigated under two categories. Majority of the congenital hearing loss (80% are membranous malformations. Here the pathology involves inner ear hair cells. There is no gross bony abnormality and therefore, in these cases, high resolution computerized tomography and MRI of the temporal bone reveal normal findings. Remaining 20% have various malformations involving the bony labyrinth and therefore, can be radiologically demonstrated by CT and MRI. The latter group involves surgical challenges as well as problems in decision making. Some cases may be managed by hearing aid, some need cochlear implantation while some cases are candidates for an auditory brainstem implantation. During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During the surgery for inner ear malformations, surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcome after various implantation methods is closely related to the status of cochlear nerve and a practical classification of the cochlear nerve deficiency is also provided

First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

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Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

2015-03-01

Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

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Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

2012-01-01

Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25

Prostatic urethra malformation associated with retrograde ejaculation: a case report.

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Zhao, Kai; Zhang, Jianzhong; Xu, Aiming; Zhang, Cheng; Wang, Zengjun

2016-12-21

Retrograde ejaculation can have anatomical, neurogenic, or pharmacological causes. Among these factors, malformation of the prostatic urethra is an uncommon cause. We describe a 29-year-old Han Chinese man with absence of his verumontanum combined with ejaculatory duct cysts, and no other cause for ejaculatory dysfunction. His verumontanum was replaced by a deep groove adjacent to his bladder neck, which could significantly influence bladder neck contraction. In addition, the large cysts in the ejaculatory duct could obstruct the anterior outlet of his prostatic urethra and prevent seminal fluid flow in an anterograde direction. There are few reports of retrograde ejaculation associated with congenital malformations of the posterior urethra. Malformations associated with bladder neck laxity and increased tone of the prostatic urethral outlet can contribute to retrograde ejaculation. Malformation of the prostatic urethra is an uncommon cause of retrograde ejaculation, and can be difficult to treat.

APPLICATION OF MRI IN THE DIAGNOSTICS OF M. MASSETER

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Mariana Dimova-Gabrovska

2017-06-01

Full Text Available Magnetic resonance imaging (MRI is a non-invasive diagnostic method which can provide detailed images of organs and structures of the human body. The purpose of this review is to explore and introduce the diagnostic capabilities of MRI in imaging m. masseter in conditions of norm and pathology. The material of the review is information of 20 literary sources selected from 530, found by keywordsfromJanuary to April 2017. The information about MRI imaging of the normal anatomy of m. masseter and the most common findings in muscle - muscle hypertrophy, inflammatory changes, vascular malformations, intramuscular hemangioma, cysticercosis and changes after radiotherapy was analyzed. In conclusion, the diagnostic capabilities of MRI of masseter muscle – both in the conditions of norm and pathology were confirmed. The method is considered to be reliable, objective, non-invasive and accurate.

Classification of venous malformations in children and implications for sclerotherapy

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Puig, Stefan [Department of Radiology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Aref, Hussein [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Department of Radiology, Alexandria Faculty of Medicine, Alexandria (Egypt); Chigot, Valerie; Brunelle, Francis [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Bonin, Beatrice [Paediatric Maxillofacial Surgery, Trousseau Hospital, Tours (France)

2003-02-01

The purpose of this work is to present a simple and descriptive classification system for venous malformations (VMs) that may serve as a basis for interventional therapy, and to test its usefulness in a sample of consecutively referred paediatric patients. The classification system we developed includes four types: type I, isolated malformation without peripheral drainage; type II, malformation that drains into normal veins; type III, malformation that drains into dilated veins; and type IV, malformation that represents dysplastic venous ectasia. The system was prospectively tested using phlebography in a sample of 43 children and adolescents with VMs who were referred for treatment during a 10-month period. Our hypothesis was that the type of VM would determine whether low-risk sclerotherapy was indicated. Thirteen (30%) patients had a type-I VM, 16 (37%) had a type-II, 9 (21%) had a type-III, and 5 (12%) had a type-IV malformation. In more than 90% of patients with a type-I or type-II lesion, sclerotherapy could be performed without any problems. In one third of patients with a type-III VM, sclerotherapy had to be withheld and one of nine (11%) developed a severe complication after therapy. Of the five patients with type-IV lesions, three (60%) had to be excluded from sclerotherapy. Our initial results indicate that sclerotherapeutic intervention in patients with type-III and type-IV VMs must be carefully considered, while it can be safely performed in low-risk patients with type-I and type-II lesions. (orig.)

Urinary lithiasis and urinary tract malformations in children: A retrospective study of 34 cases

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Jamila Chahed

2011-01-01

Full Text Available Background: Although the association of urinary lithiasis and urinary tract malformation is not rare, their management poses challenges. The aim of this study was to evaluate the relationship between urolithiasis and malformations of the urinary system. There were 34 patients (19 males and 15 females with a mean age of 4.8 years (range, 2 months to 14 years. All patients had urinary lithiasis with a urinary tract malformation. Abdominal pain was the most frequent clinical symptom (38%. Urinary infection was found in 7 patients (21% and macroscopic haematuria was present in 10 patients (29%. The most frequent urinary tract malformations were megaureter (8 cases, uretero-pelvic junction obstruction (7 cases and vesico-ureteric reflux (8 cases, but its malformative origin could not be confirmed. Treatment consisted of lithiasis extraction in 32 cases associated with specific treatment of the uropathy in 27 cases. Postoperative outcome was uneventful in all cases. In fact, urinary lithiasis and urinary tract malformation association is not rare. Indeed, 9-34% of urinary lithiasis are noted to be associated with urinary tract malformation. Positive diagnosis relies specifically on kidney ultrasound, intravenous urography, and urethrocystography. Treatment depends on the type of urinary tract malformation, localisation and size of the urinary lithiasis. Conclusion: In conclusion, urinary lithiasis and urinary tract malformation association is a frequent eventuality. Surgical intervention is the usual mode of treatment.

Liquid nitrogen cryotherapy for lip mucous membrane venous malformation in infants.

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Zhang, Da-Ming; Wang, You-Yuan; Lin, Zhao-Yu; Yang, Zhao-Hui; Chen, Wei-Liang

2015-03-01

Lip mucous membrane venous malformations are common benign lesions in infants. This clinical study evaluates the efficacy and safety of liquid nitrogen cryotherapy used to treat this condition. A total of 84 pediatric patients undergoing liquid nitrogen cryotherapy for venous malformations involving the lips were reviewed, with 45 males and 39 females treated. The overall median age at mucous membrane venous malformation diagnosis was 5.6 months (range 2-18 months). The venous malformations involved the vermilion of the lower lip in 44 cases, the vermilion of the upper lip in 31 cases, and both vermilions in 9 cases. No complications due to anesthesia occurred. After a follow-up period of 2-38 months (mean 25 months), 65 lesions (77.4 %) were completely involuted, 14 lesions (16.7 %) were mostly involuted, and 5 lesions (5.9 %) were partially involuted; no lesions showed a minor amount of involution. Liquid nitrogen cryotherapy is an effective, simple, and safe management tool for mucous membrane venous malformations of the lip in infants.

Congenital non-central nervous system malformations in cerebral palsy: a distinct subset?

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Self, Lauren; Dagenais, Lynn; Shevell, Michael

2012-08-01

The aim of this article was to identify and contrast the subset of children with cerebral palsy (CP) and non-central nervous system (CNS) congenital malformations with children with CP but no coexisting non-CNS congenital malformations. A population-based regional comprehensive CP registry was used to identify children with CP who had non-CNS congenital malformations (n = 34; 19 males, 15 females; 22 classified as Gross Motor Function Classification System [GMFCS] levels I-III, 12 as GMFCS level IV or V). Their clinical features were then compared with other children with CP without non-CNS congenital malformations (n = 207; 115 males, 92 females; 138 classified as GMFCS levels I-III, 69 as GMFCS level IV or V). Children with CP and non-CNS congenital malformations did not differ from those without in terms of neurological subtype distribution or functional severity, as measured by the GMFCS. Also, there was no association with previous maternal infections (i.e. toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus 2 [TORCH]), maternal fever, use of illicit substances, asphyxia, neonatal encephalopathy, intraventricular haemorrhage, or septicaemia. The incidence of comorbidities such as convulsions, communication difficulties, gavage feeding, cortical blindness, and auditory impairment was not higher in this subgroup. The incidence of congenital non-CNS malformations among children with CP is appreciable. Children with these non-CNS malformations do not appear to differ from other children with CP regarding neurological subtype, functional severity, and comorbidities, or maternal or obstetrical factors. Thus, the specific presence of a non-CNS congenital malformation does not appear to assist the practitioner in the management or understanding of a child's CP. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Developmental biology and the study of malformations.

Science.gov (United States)

Hughes, A F

1976-05-01

Experimental work on abnormal conditions of incubation in the chick has been undertaken to acquire a scientific approach to malformations. More precise experiments on causing abnormalities had a common origin with experimental embryology. Progress in experimental teratology during the last 50 years is reviewed in a commentary on the 4 principles formulated by Stockard in 1921. The results of cytogenetical studies in man and in other organisms have led to the tracing of some relationships between them. Present knowledge concerning malformations of the neural tube, originating either experimentally, spontaneously, or phenotypically, has been presented and the teratological implications of some recent theories on the expression of the genotype are discussed in particular reference to problems of hormones as teratogens, the implication of carbohydrate metabolism, and teratogenesis. It is speculated that teratogenesis is possibly related to cationic balance in early development and that 1 factor retarding progress in the understanding of malformations is the tendency toward the development of teratology in an adequately close relationship with other branches of cell biology.

Arnold-Chiari Type II Malformation: A Case Report and Review of Prenatal Sonographic Findings

Directory of Open Access Journals (Sweden)

Maryam Nik Nejadi

2008-01-01

Full Text Available The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downwarddisplacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into thespinal canal. This malformation is one of causative factor of death in neonates and infants. Athorough understanding of the direct and indirect sonographic findings is necessary for diagnosis ofChiari II malformation in the developing fetus.In this case report, we present a Chiari malformation II detected at 23 weeks of gestation by routinelysonographic screening. The Role of prenatal sonography in recognition of the malformation andprognostic value of these features are discussed.

Valproic acid monotherapy in pregnancy and major congenital malformations

DEFF Research Database (Denmark)

Jentink, Janneke; Loane, Maria A; Dolk, Helen

2010-01-01

The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

Intramuscular vascular malformations of an extremity: findings on MR imaging and pathologic correlation

International Nuclear Information System (INIS)

Kim, E.Y.; Ahn, J.M.; Yoon, H.K.; Do, Y.S.; Kim, S.H.; Choo, S.W.; Choo, I.W.; Suh, Y.L.; Kim, S.M.; Kang, H.S.

1999-01-01

Objective. To analyze the findings of intramuscular vascular malformations of an extremity on MR imaging and to correlate these findings with histopathologic examination.Design and patients. The findings on MR imaging and the medical records of 14 patients with an intramuscular vascular malformation of the extremity were retrospectively studied. All patients underwent surgical excision. Diagnoses were based on the results of pathologic examination. Findings on MR imaging were noted and correlated with the histopathologic findings.Results. Intramuscular vascular malformations of an extremity showed multi-septate, honeycomb, or mixed appearance on MR imaging. Multi-septate areas correlated with dilated and communicating vascular spaces with flattened endothelium. Honeycomb areas corresponded to vascular spaces with inconspicuous small lumina and thickened vascular walls. Areas of increased signal intensity on T2-weighted images were found in all intramuscular vascular malformations. Infiltrative margins were more commonly seen in intramuscular lymphaticovenous malformations. Adherence to neurovascular structures and orientation of the lesion along the long axis of the affected muscle were more commonly seen in intramuscular venous malformations.Conclusions. Intramuscular vascular malformations showed either a multi-septate, honeycomb, or mixed appearance, reflecting the size of the vascular spaces and the thickness of the smooth muscles of the vessel walls. Prediction of the subtype of an intramuscular vascular malformation of an extremity on MR imaging seems to be difficult, although there are associated findings that may be helpful in the differential diagnosis of each subtype. (orig.)

The morphology of the foregut of larvae and postlarva of Sesarma curacaoense De Man, 1892: a species with facultative lecithotrophy during larval development A morfologia do estômago de larvas e pós-larvas de Sesarma curacaoense De Man, 1892: uma espécie com desenvolvimento larval lecitotrófico facultativo

Directory of Open Access Journals (Sweden)

Marlon Aguiar Melo

2006-01-01

Full Text Available Previous study on the resistance of larvae of Sesarma curacaoense submitted to starvation has revealed a facultative lecithotrophy during zoeal stages, but megalopa and first juvenile stages are exclusively feeding stages. In the present study, the gross morphology and fine structure of the foregut of S. curacaoense were investigated during larval, megalopa and first juvenile stages. The foregut of the zoea I show specific setae and a filter press apparently functional. The foregut undergoes changes in the zoea II (last larval stage with increment of setae number, mainly on the cardiopyloric valve and complexity of the filter press. After metamorphosis to megalopa stage the foregut become rather complex, with a gastric mill supporting a medial and two lateral teeth well-developed. The foregut of the first juvenile is more specialized compared to the previous stage, showing similar characteristics of the decapod adults. These results provide further evidence of facultative lecithotrophic development in the larvae of S. curacaoense.Estudo prévio sobre o efeito da inanição em larvas de Sesarma curacaoense propôs que estas larvas apresentam comportamento lecitotrófico facultativo. No presente trabalho a morfologia do estômago de S. curacaoense foi estudada durante os estágios larvais, megalopa e juvenil I. A estrutura do estômago da zoea I possui cerdas específicas e com filtro pilórico aparentemente funcional. Especialização no estômago do zoea II (último estágio larval foi evidenciada pelo incremento do número de cerdas na válvula cárdio-pilórica e pela complexidade do filtro pilórico. Após a metamorfose para o estágio megalopa, o estômago ficou consideravelmente complexo, com o aparecimento de um moinho gástrico contendo um medial e dois laterais dentes bem desenvolvidos. O estômago do juvenil I mostrou-se ainda mais especializado que no estágio anterior, exibindo características morfológicas similares �

Comparative study of sclerotherapy of venous malformation in children using absolute ethanol and pingyangmycin

International Nuclear Information System (INIS)

Zhang Jing; Li Haobo; Zhou Shaoyi; Chen Kunshan; Niu Chuanqiang; Tan Xiaoyun; Jiang Yizhou; Lin Queqing

2012-01-01

Objective: To evaluate and compare the curative effect and the safety of sclerotherapy of venous malformation in children using absolute ethanol and pingyangmycin. Methods: Eighty children with venous malformation were treated by sclerotherapy with absolute ethanol or pingyangmycin under general anesthesia during February of 2009 to May of 2011. Diagnostic criteria included the presence of a blue-colored lesion at birth, with gradual increase in its size associated with a positive postural test. MRI showed characteristic imaging features. Eighty patients were divided into two groups by randomization. Forty patients were treated with absolute ethanol, and the remaining 40 patients with pingyangmycin. The therapeutic effects and side effects were observed and recorded during a follow-up period of 6 to 24 months (average 15 months). Treatment results were divided into four categories: cure, basic cure, effective, and ineffective, and the former three categories were considered effective in treatment. Chi-square test was used to compare the rate of effective treatment and rate of complications in these two groups. Results: The effective patients treated with absolute ethanol was 38 (95.0%, 38/40), and the effective patients with pingyangmycin was 26 (65.0%, 26/40), χ 2 test (χ 2 =11.25, P<0.01) difference was statistically significant. Eight patients developed skin necrosis; 4 patients serious local swelling, 2 patients muscle fibrosis, 1 patient cerebral embolism in the absolute alcohol group. Two patients developed postoperative fever and vomiting and 2 skin necrosis in the pingyangmycin group,the difference was statistically significant (χ 2 =12.29, P<0.01). Conclusions: Sclerotherapy is effective for the treatment of venous malformations in children. Absolute ethanol is more effective, but associated with more complications, such as skin necrosis or as serious as cerebral embolism, than pingyangmycin. (authors)

Congenital pulmonary airway malformation in a 36 year-old female

OpenAIRE

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

2015-01-01

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

Malformations and abnormalities of the petrous portion of the temporal bone; Fehlbildungen und Missbildungen des Felsenbeins

Energy Technology Data Exchange (ETDEWEB)

Reith, W.; Yilmaz, U. [Universitaetsklinikum des Saarlandes, Klinik fuer Diagnostische und Interventionelle Neuroradiologie, Homburg/Saar (Germany); Heumueller, I. [Westpfalzklinikum Kaiserslautern, Institut fuer Radiologie, Kaiserslautern (Germany)

2014-04-15

High-resolution computed tomography (HRCT) is the procedure of choice in the diagnostics of abnormalities of the middle and inner ear. It allows a detailed presentation of anatomical features and achieves the prerequisites for selection of the various therapeutic options. The highly diverse abnormalities can be described using detailed imaging analyses. Malformations with an abnormally developed modiolus are assumed to be early embryological defects, such as the classical Mondini dysplasia. The essential therapeutic option for middle ear deformities is still a cochlear implant. The domain of magnetic resonance imaging (MRI) is not only in the analysis of the cochlear nerve and for exclusion of fibrosis or ossification of the labyrinth but is also able to visualize details of isolated malformations, such as an extended vestibular aqueduct or subtle alterations to the vestibule or can visualize them better in comparison to CT. Radiological diagnostics are used not only for classification but also to recognize typical clinical problem situations and play a key role in the diagnostics of hearing disorders and selection of the optimal therapeutic procedure. (orig.) [German] Die hochaufloesende CT ist das Verfahren der Wahl in der Diagnostik von Fehlbildungen des Mittel- und Innenohrs. Sie erlaubt die detaillierte Darstellung anatomischer Details und schafft die Voraussetzung fuer die unterschiedlichen Therapieoptionen. Durch detaillierte bildgebenden Analysen koennen die unterschiedlichsten Fehlbildungen beschrieben werden. Fehlbildungen mit einem nicht normal ausgebildeten Modiolus werden als fruehere embryologische Schaedigungen als die klassische Mondini-Dysplasie angesehen. Die wesentliche therapeutische Option bei Mittelohrfehlbildung bleibt das Kochleaimplantat. Die Domaene der MRT liegt nicht nur in der Analyse des N. cochlearis und im Ausschluss von Fibrosierungen oder Ossifikationen des Labyrinths, sondern darueber hinaus ist sie in der Lage, Details einzelner

[Multi-channel cochlear implants in patients with Mondini malformation].

Science.gov (United States)

Li, Yong-xin; Han, De-min; Zhao, Xiao-tian; Chen, Xue-qing; Kong, Ying; Zheng, Jun; Liu, Bo; Liu, Sha; Mo, Ling-yan; Zhang, Hua; Wang, Shuo

2004-02-01

To describe clinical experiences with multi-channel cochlear implantation in patients with Mondini malformation. Among 300 patients who received multi-channel cochlear implants from 1996 to 2002 in Beijing Tongren Hospital, 15 patients were diagnosed with Mondini malformation. A retrospective analysis was performed dealing with the surgical techniques, mapping and rehabilitations characteristics after surgery. 15 patients with normal cochlear structure are consider as control group. Gusher is found more common than the normal cochlear implantation, most of them are serious. The electrodes are inserted in the "cochleostomy" in full length of 13 Patients, 2 pairs of electrodes remains outside of "cochleostomy" in 2 patients. No serious complications occurred after implantation. All patients have auditory sensations. The impedance of the electrodes, the T level, C level and the hearing threshold are similar with the normal cochlear implantation group. The results have no significant difference in compare with normal cochlear group(P > 0.05). Multi-channel cochlear implantation could be performed safely in patients with Mondini malformation. The primary outcome for patients with Mondini malformation are similar to those with normal cochlear structure following the multi-channel cochlear implantation.

Three-dimensional spiral CT of craniofacial malformations in children

International Nuclear Information System (INIS)

Binaghi, S.; Gudinchet, F.

2000-01-01

Objective. To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. Materials and methods. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent workstation. Results. 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and ''Lego effect'' related to abrupt change of cranial vault border were encountered and are discussed. Conclusions. 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment. (orig.)

CT analysis of 333 cases of congenital malformations of the external and middle ear

International Nuclear Information System (INIS)

Zou Xin; Li Qiang; Wang Zhenchang; Xian Junfang; Lan Baosen

1997-01-01

To analyze the different CT findings of congenital malformations of the external and middle ear, 333 cases including 404 ears with external and middle ear malformations diagnosed by high resolution CT (HRCT) were analysed according to the location and type of the malformation. In 404 ears, there were 364 ears with atresia of external auditory meatus, 40 ears with stenosis of external auditory meatus, 377 ears with malformation of the ossicles, 382 ears with stenosis of tympanum and 333 ears with anterior position of the mastoid segment of the facial canal. HRCT can show the location and type of external and middle ear malformation and provide valuable information for surgery

Utility of the angio resonance in the diagnose of the vascular malformations

International Nuclear Information System (INIS)

Delgado de B, Jorge Andres; Pulgarin, Luis German; Toro, Nancy; Bolivar Guillermo

1997-01-01

Vascular malformations (VMS) can be successfully evaluated with a combination of magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). The MRA gives good anatomic information while the MRA gives important functional and complementary structural information. The main objectives in a radiological evaluation of the (VMS) is to offer data about the feeding arteries, size and location of the nidus of some malformation, the morphology and the type of venous drainage and other important features that may have therapeutic and prognostic value. From a total of 186 MRA performed in our institution (IATM) from January of 1994 to June 1996, we have diagnosed 17 vascular malformations, most of them categorized as arteriovenous malformations (11 cases) the others were developmental venous anomalies (5 cases of venous angiomas) and one case of a cavernous malformation. Previous imaging did not identify many of the VMS detected by MRA. MRI-MRA is the most sensitive and specific non-invasive method for the evaluation of this congenital lesion

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

Science.gov (United States)

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.

Chiari-like malformation and syringomyelia in cavalier King Charles spaniels

NARCIS (Netherlands)

Rusbridge, C.

2007-01-01

This thesis is the cumulation of over a decade of study into the pathogenesis and treatment Chiari-like malformation and syringomyelia (CM/SM) in the cavalier King Charles spaniel (CKCS). Chiari-like malformation is a condition where the brain is too big for the skull and is crushed and pushed out

Congenital malformation of the systemic heart of Sepia officinalis l ...

African Journals Online (AJOL)

Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

Congenital malformations associated with assisted reproductive technology: a California statewide analysis.

Science.gov (United States)

Kelley-Quon, Lorraine I; Tseng, Chi-Hong; Janzen, Carla; Shew, Stephen B

2013-06-01

Management of congenital malformations comprises a large part of pediatric surgical care. Despite increasing utilization of assisted reproductive technology (ART) and fertility-related services (FRS), associations with birth defects are poorly understood. Infants born after ART or FRS were identified from the California Linked Birth Cohort Dataset from 2006 to 2007 and compared to propensity matched infants conceived naturally. Factors associated with major congenital malformations were evaluated using Firth logistic regression. With a cohort of 4,795 infants born after ART and 46,025 naturally conceived matched controls, major congenital malformations were identified in 3,463 infants. Malformations were increased for ART infants (9.0% vs. 6.6%, pmalformations overall (OR 1.25, 95% CI 1.12-1.39), specifically defects of the eye (OR 1.81, 95% CI 1.04-3.16), head and neck (OR 1.37, 95% CI 1.00-1.86), heart (OR 1.41, 95% CI 1.22-1.64), and genitourinary system (OR 1.40, 95% CI 1.09-1.82). The likelihood of birth defects was increased for multiples (OR 1.35, 95% CI 1.18-1.54) and not singletons. Odds of congenital malformation after FRS alone (n=1,749) were non-significant. ART contributes a significant risk of congenital malformation and may be more pronounced for multiples. Accurate counseling for parents considering ART and multidisciplinary coordination of care prior to delivery are warranted. Copyright © 2013 Elsevier Inc. All rights reserved.

[Cochlear implant in patients with congenital malformation of inner ear].

Science.gov (United States)

Han, Dong-yi; Wu, Wen-ming; Xi, Xin; Huang, De-liang; Yang, Wei-yan

2004-02-01

To study surgical difficulty and key of the cochlear implant in patients with congenital malformation of inner ear. The cochlear implantations were performed in our department from Jan. 2001 to Apr. 2003 for 18 patients with the malformation of inner ear. In this series, there were 11 cases of large vestibular aqueduct syndrome (LVAS), 3 cases of Waardenberg syndrome, 3 cases of Mondini malformation, and 1 case of Usher syndrome. All 18 patients accepted the Nucleus 24-channel cochlear implantations, including Nucleus straight electrode in 13 cases but Contour implantation in 5 cases of LVAS. During operations, leakage of perilymph but not cerebrospinal fluid (CSF) from the open of scala tympani occurred in 11 cases of LVAS, however, the electrode was inserted successfully. The abnormalities of round window occurred in one of 3 cases of Waardenberg syndrome and 3 cases of Mondini malformation, respectively. The cochlear implant could be conducted successfully for the LVAS, and the postoperative effect was same as the ones for the deafness persons with normal development of inner ear. However, for the patients with Mondini syndrome and common cavity, it is important to accurately assess the extent of abnormalities in the inner ear and accompanied malformation before operation, and to evaluate the full extent of difficulties of the operation in order to minimize the risk of CSF leakage and meningitis.

Kidney and Urinary Tract Congenital Malformations. Diagnosis and Evolution. 1999- 2005

International Nuclear Information System (INIS)

Aguilera Bauza, Mirna Pilar; Pena Perez, Raul; Ramirez Prieto, Juan Romelio; Martinez Feria, Rafael; Parra Cruz, Mariela; Pena Hernandez, Miguel Antonio

2008-01-01

A descriptive study in 351 patients at the Nephrology and Urology Services at 'Octavio de la Concepcion de la Pedraja' Teaching Pediatric Hospital from January 1999 to December 2005, was carried out. 535 kidney and urinary tract congenital malformations of 19 types were diagnosed. Primary vesicoureteral reflux and ureteropyelic stenosis were the most frequently malformations. The majority of these patients were diagnosed during the first year of the life. The most frequently clinic manifestation was urinary tract infection. Ultrasound study and cystouretrography were effective to diagnose these malformations. The majority of patients with prenatal diagnosis had congenital hydronephrosis. Posterior urethral valves were the principal cause of chronic renal failure. The I, II and III grades of Primary Vesicoureteral Reflux disappeared spontaneously with conservative treatment. There was a direct relationship between Reflux Nephropathy and the grade of these malformations

Simultaneous and sequential hemorrhage of multiple cerebral cavernous malformations: a case report.

Science.gov (United States)

Louis, Nundia; Marsh, Robert

2016-02-09

The etiology of cerebral cavernous malformation hemorrhage is not well understood. Causative physiologic parameters preceding hemorrhagic cavernous malformation events are often not reported. We present a case of an individual with sequential simultaneous hemorrhages in multiple cerebral cavernous malformations with a new onset diagnosis of hypertension. A 42-year-old white man was admitted to our facility with worsening headache, left facial and tongue numbness, dizziness, diplopia, and elevated blood pressure. His past medical history was significant for new onset diagnosis of hypertension and chronic seasonal allergies. Serial imaging over the ensuing 8 days revealed sequential hemorrhagic lesions. He underwent suboccipital craniotomy for resection of the lesions located in the fourth ventricle and right cerebellum. One month after surgery, he had near complete resolution of his symptoms with mild residual vertigo but symptomatic chronic hypertension. Many studies have focused on genetic and inflammatory mechanisms contributing to cerebral cavernous malformation rupture, but few have reported on the potential of hemodynamic changes contributing to cerebral cavernous malformation rupture. Systemic blood pressure changes clearly have an effect on angioma pressures. When considering the histopathological features of cerebral cavernous malformation architecture, changes in arterial pressure could cause meaningful alterations in hemorrhage propensity and patterns.

Functional Magnetic Resonance Imaging in the Presurgical Evaluation of Brain Vascular Malformations

International Nuclear Information System (INIS)

Montes, Natalia; Herrera, Diego A; Vargas Sergio A

2010-01-01

Objective: To describe our experience in presurgical evaluation of intracranial vascular malformations by means of functional magnetic resonance (fMRI). Method: To evaluate eight patients with cerebral vascular malformations (seven arterio-venous malformation [AVM ] and one cavernous malformation) to send to the eloquent cortex with RMf pre-surgical mapping is assessed. Used a technique that is dependent on the level of oxygen (BOLD) to locate these areas in the cerebral vascular malformation, by applying different paradigms. Results: We found one AVM at the right temporal lobe with activation of the parahipocampal gyrus at the contralateral side using a memory paradigm; another patient with an AVM at the right mesotemporal lobe showed activation of visual and spatial memory of the contralateral hippocampus and parahippocampus. One patient with an AVM at the left parietal lobe without compromise of sensorial and motor cortex; a cavernous malformation at the left angular gyrus with hemispheric language dominance in that side; one right thalamic AVM, one periventricular AVM bilateral language dominance; one left occipital AVM with decreased activation in visual association cortex; one temporoccipital AVM with left language dominance and neurovascular uncoupling. Conclusion: fMRI can delineate anatomically the relationship between the lesion and eloquent cortex, providing useful information for presurgical planning and allowing risk estimation of intervention.

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Science.gov (United States)

Weston, Jennifer; Bromley, Rebecca; Jackson, Cerian F; Adab, Naghme; Clayton-Smith, Jill; Greenhalgh, Janette; Hounsome, Juliet; McKay, Andrew J; Tudur Smith, Catrin; Marson, Anthony G

2016-11-07

There is evidence that certain antiepileptic drugs (AEDs) are teratogenic and are associated with an increased risk of congenital malformation. The majority of women with epilepsy continue taking AEDs throughout pregnancy; therefore it is important that comprehensive information on the potential risks associated with AED treatment is available. To assess the effects of prenatal exposure to AEDs on the prevalence of congenital malformations in the child. We searched the Cochrane Epilepsy Group Specialized Register (September 2015), Cochrane Central Register of Controlled Trials (CENTRAL) (2015, Issue 11), MEDLINE (via Ovid) (1946 to September 2015), EMBASE (1974 to September 2015), Pharmline (1978 to September 2015), Reprotox (1983 to September 2015) and conference abstracts (2010-2015) without language restriction. We included prospective cohort controlled studies, cohort studies set within pregnancy registries and randomised controlled trials. Participants were women with epilepsy taking AEDs; the two control groups were women without epilepsy and women with epilepsy who were not taking AEDs during pregnancy. Three authors independently selected studies for inclusion. Five authors completed data extraction and risk of bias assessments. The primary outcome was the presence of a major congenital malformation. Secondary outcomes included specific types of major congenital malformations. Where meta-analysis was not possible, we reviewed included studies narratively. We included 50 studies, with 31 contributing to meta-analysis. Study quality varied, and given the observational design, all were at high risk of certain biases. However, biases were balanced across the AEDs investigated and we believe that the results are not explained by these biases.Children exposed to carbamazepine (CBZ) were at a higher risk of malformation than children born to women without epilepsy (N = 1367 vs 2146, risk ratio (RR) 2.01, 95% confidence interval (CI) 1.20 to 3.36) and women with

Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

OpenAIRE

Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

2013-01-01

Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

Congenital Pulmonary Malformation in Children

OpenAIRE

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations

NARCIS (Netherlands)

Wijers, Charlotte H. W.; van Rooij, Iris A. L. M.; Rassouli, Roxana; Wijnen, Marc H.; Broens, Paul M. A.; Sloots, Cornelius E. J.; Brunner, Han G.; De Blaauw, Ivo; Roeleveld, Nel

Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among

Diagnostic imaging of the hand. 3. rev. and enl. ed.

International Nuclear Information System (INIS)

Schmitt, Rainer; Lanz, Ulrich

2015-01-01

The book on diagnostic imaging of the hand covers the following issues: projection radiography, cinematography, MRT and CR arthrography, arthroscopy, arteriography, skeleton scintiscanning, sonography, computerized tomography, magnetic resonance tomography, anatomy of forearm and carpus, anatomy of metacarpus and fingers, carpal function and morphometry, postoperative X-ray diagnostic, growing hand skeleton, normative variants, malformations and deformities, trauma of the distal forearm, lesions of the ulnocarpal complex (TFCC), scaphoid fractures, scaphoid arthrosis, fractures of other carpus bones, carpal luxations and luxation fractures, carpal instabilities, fractures of the metacarpalla, finger fractures, arthrosis deformans, enthesiopathies, sport induced soft tissue lesions, osteonecrosis, impingement syndromes, osteopenic skeletal diseases, metabolis diseases, crystal-induced osteoarthropaties, rheumatoid arthritis, spondyloarthritis, rheumatic fever, collagenoses, infective arthritis, osteomyelitis, soft tissue infections, cystoids bone lesions, skeletal tumors, soft tissue tumors, carpal tunnel syndrome, nerve compression syndrome, arterial perfusion disturbances, differential diagnostic tables on hand lesions.

Radiological features of childhood giant cavernous malformations

Energy Technology Data Exchange (ETDEWEB)

Ozgen, Burce; Senocak, Efsun; Oguz, Kader K. [Hacettepe University, Department of Radiology, Faculty of Medicine, Ankara (Turkey); Soylemezoglu, Figen [Hacettepe University, Department of Pathology, School of Medicine, Ankara (Turkey); Akalan, Nejat [Hacettepe University, Department of Neurosurgery, School of Medicine, Ankara (Turkey)

2011-04-15

Giant cavernous malformations (GCM) are very large, low-flow vascular malformations, which usually have atypical imaging features and are commonly misdiagnosed preoperatively as neoplasms or vascular malformations. These lesions have mostly been reported in children. As cavernomas show different features in children compared to adults, we evaluated the imaging features of pediatric GCMs in order to help in the preoperative diagnosis of these malformations. Brain MR studies of nine children (mean age of 4 years; 8 months-9 years) with biopsy-proven GCM were retrospectively evaluated. We defined GCMs as cavernomas of {>=}4 cm. Lesions were evaluated regarding their size, location, signal characteristics, general appearance (uni/multilocular) as well as regarding the presence of mass effect, edema, and fluid-fluid levels and were classified according to the Mottolese classification of pediatric cavernomas. Lesion locations were parietal (n = 5), frontal (n = 2), temporal, and intraventricular. Seven lesions were in the periventricular region (with five in the periatrial region). Six patients had T1 hyperintense multilobulated lesions with ''bubbles of blood'' appearance and three patients had heterogeneous lesions with reticular core. All lesions had mass effect, edema (marked in four cases), and peripheral hemosiderin rim. Fluid-fluid levels were also common (n = 7). Most of our lesions (six of nine) were classified as type IIIA, two as type IIIC, and one as type IA. In children, a GCM should be considered in case of very large hemorrhagic intra-axial mass with ''bubbles of blood'' multicystic appearance, surrounding hemosiderin ring, fluid-fluid levels, and accompanying edema-mass effect, especially in the periatrial location. (orig.)

Abortion, premature delivery, stillborn, and malformations

International Nuclear Information System (INIS)

Sato, Yukio

1992-01-01

Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F 1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F 1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F 1 and F 2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

CT findings in Arnold-Chiari malformation

Energy Technology Data Exchange (ETDEWEB)

Tanaka, Y.; Nakamura, S. (Aichi Prefecture Colony, Kasugai (Japan). Central Hospital); Yamada, H.; Kageyama, N.

1981-12-01

CT scans of Arnold-Chiari malformations demonstrate many abnormal findings that are considered to be specific for this type of malformation. Fifty patients with Arnold-Chiari malformations were studied, and their CT findings were analyzed. This number included 14 preshunted neonatal cases and 36 post-shunted infantile cases. Craniolacunia was recognized only in the neonatal cases, but other skull changes, including scaphocephaly and petrous scalloping, were found more frequently in the infantile cases. The posterior fossa abnormality was composed of several specific changes, such as a non-visualized fourth ventricle, a lateral or upward growth of the cerebellum, or a beaking deformity of the midbrain. These findings were far more common in the infantile cases. However, in 7 neonatal cases on which CT cisternography was performed, these posterior fossa changes were well recognized in the majority of cases. Hydrocephalus was found in all cases. In half of the post-shunted infantile cases, the lateral ventricles were markedly collapsed. Characteristic features of the lateral ventricles, such as a protruding of the caudate nuclei, a pointing of the frontal and/or occipital horns, an absent septum pellucidum, or dominently dilated occipital horns, were commonly found in both neonatal and infantile cases. The subarachnoid space was remarkably widened at the retrothalamic cistern and/or the interhemispheric fissure in many cases.

A Ribeiroia spp. (Class: Trematoda) - Specific PCR-based diagnostic

Science.gov (United States)

Reinitz, David M.; Yoshino, T.P.; Cole, Rebecca A.

2007-01-01

Increased reporting of amphibian malformations in North America has been noted with concern in light of reports that amphibian numbers and species are declining worldwide. Ribeiroia ondatrae has been shown to cause a variety of types of malformations in amphibians. However, little is known about the prevalence of R. ondatrae in North America. To aid in conducting field studies of Ribeiroia spp., we have developed a polymerase chain reaction (PCR)-based diagnostic. Herein, we describe the development of an accurate, rapid, simple, and cost-effective diagnostic for detection of Ribeiroia spp. infection in snails (Planorbella trivolvis). Candidate oligonucleotide primers for PCR were designed via DNA sequence analyses of multiple ribosomal internal transcribed spacer-2 regions from Ribeiroia spp. and Echinostoma spp. Comparison of consensus sequences determined from both genera identified areas of sequence potentially unique to Ribeiroia spp. The PCR reliably produced a diagnostic 290-base pair (bp) product in the presence of a wide concentration range of snail or frog DNA. Sensitivity was examined with DNA extracted from single R. ondatrae cercaria. The single-tube PCR could routinely detect less than 1 cercariae equivalent, because DNA isolated from a single cercaria could be diluted at least 1:50 and still yield a positive result via gel electrophoresis. An even more sensitive nested PCR also was developed that routinely detected 100 fg of the 290-bp fragment. The assay did not detect furcocercous cercariae of certain Schistosomatidae, Echinostoma sp., or Sphaeridiotrema globulus nor adults of Clinostomum sp. or Cyathocotyle bushiensis. Field testing of 137 P. trivolvis identified 3 positives with no overt environmental cross-reactivity, and results concurred with microscopic examinations in all cases. ?? American Society of Parasitologists 2007.

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

International Nuclear Information System (INIS)

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

1990-01-01

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

Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation

DEFF Research Database (Denmark)

Andersen, Jon Trærup; Petersen, Morten; Jimenez-Solem, Espen

2013-01-01

(OR) of major congenital malformation was 1.87, 95% confidence interval (CI) 1.25-2.81. There was a significant increase in major malformations of the heart (OR = 2.49; 1.18-5.26) and limbs (OR = 2.18; 1.13-4.23). Conclusions. In this study, we found an association between exposure to trimethoprim......Objectives. The aim of the study was to investigate whether the use of the antifolate antibiotic trimethoprim during the 12 weeks before conception was associated with congenital malformations. Methods. We conducted a nationwide register-based cohort study including all Danish women giving birth...... from 1997 to 2004. All women with at least one prescription of trimethoprim dispensed during the 12 weeks before conception were identified. Results. There was a doubling of congenital malformations in offspring to women exposed to trimethoprim in the 12 weeks before conception. The adjusted odds ratio...

Desenvolvimento pós-embrionário do intestino anterior de Dermatobia hominis (Linnaeus Jr. (Diptera, Cuterebridae Post-embryonic development of Dermatobia hominis (Linnaeus Jr. (Diptera, Cuterebridae foregut

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Ana Maria Vieira

2001-03-01

Full Text Available Foregut in D. hominis (Linnaeus Jr., 1781 as the majority of the larval Diptera somatic tissue, is made up of polytenic cells, and grows at the expenses of the polytenization of its nuclei followed by the increase in size of each cell. The oesophagus, of ectodermic origem, is interiorly covered by a chitinous squamous epithelium that rests upon a very thin basal lamina. This sheet is surrounded by thick muscle bundles. The oesophagus intussuscepts the midgut forming the cardia. The cardia, with three epithelial layers: two internal ones, of ectodermal origin and one external of endodermic origin. At the anterior portion of the cardia, between these two types of epithelium, there is a cluster of small, non polytenic cells, forming the imaginal disk of the foregut. Metamoiphosis begins at the end of the larval period with signs of nuclear degeneration of all the polytenic cells, as well as the increase in number of the imaginal disk ones. The oesophagic portion intussuscepted into the cardia, everts; its cells suffer apoptosis and are replaced by the new cells growing from the imaginal disk. The external layer cells also degenerate and are pinched off into the lumen of the very anterior portion of the midgut. The newly formed oesophagus intussuscepts "de novo" to form the two internal layers of the adult cardia. At the same time the midgut regenerative cells grow anteriorly to form the new external layer of the adult cardia.

Placenta previa and risk of major congenital malformations among singleton births in Finland.

Science.gov (United States)

Kancherla, Vijaya; Räisänen, Sari; Gissler, Mika; Kramer, Michael R; Heinonen, Seppo

2015-06-01

Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies. © 2015 Wiley Periodicals, Inc.

Antithyroid Drugs and Congenital Malformations: A Nationwide Korean Cohort Study.

Science.gov (United States)

Seo, Gi Hyeon; Kim, Tae Hyuk; Chung, Jae Hoon

2018-03-20

Untreated or insufficiently treated Graves disease in pregnancy may pose risks to both mother and fetus. Antithyroid drugs (ATDs) are the treatment mainstay, but the potential teratogenic effect of these drugs has prompted clinicians to question the safe management of this vulnerable population. To examine the association between maternal prescriptions for ATDs and congenital malformations in live births. Nationwide cohort study. Korean National Health Insurance database. A cohort of 2 886 970 completed pregnancies linked to live-born infants in 2 210 253 women between 2008 and 2014. Maternal prescriptions for ATDs in the first trimester. The risk for overall and organ-specific congenital malformations in offspring, with logistic regression models used to control for potential confounders. 12 891 pregnancies (0.45%) were exposed to ATDs during the first trimester. The prevalence of malformations in exposed offspring was 7.27%, compared with 5.94% in offspring of women who were not prescribed ATDs during pregnancy (P 495 mg) during the first trimester was associated with an increased risk for malformations compared with a low dose (1 to 126 mg) (adjusted odds ratio, 1.87 [CI, 1.06 to 3.30]). The study used a prescription claims database to assess ATD exposure. Exposure to ATDs during the first trimester was associated with increased risk for congenital malformations, particularly for pregnancies in which women received prescriptions for MMI or both ATDs. None.

Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

Energy Technology Data Exchange (ETDEWEB)

Woitek, Ramona; Prayer, Daniela; Weber, Michael; Schoepf, Veronika; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor [Medical University of Vienna, Department of Biomedical Imaging and Image-guided Therapy, Vienna (Austria); Amann, Gabriele [Medical University of Vienna, Department of Clinical Pathology, Vienna (Austria); Seidl, Rainer [Medical University of Vienna, Department of Paediatrics and Adolescent Medicine, Vienna (Austria); Bettelheim, Dieter [Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna (Austria); Brugger, Peter C. [Medical University of Vienna, Center for Anatomy and Cell Biology, Vienna (Austria)

2016-05-15

This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm{sup 2}, 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p =.003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. (orig.)

Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

International Nuclear Information System (INIS)

Woitek, Ramona; Prayer, Daniela; Weber, Michael; Schoepf, Veronika; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor; Amann, Gabriele; Seidl, Rainer; Bettelheim, Dieter; Brugger, Peter C.

2016-01-01

This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm 2 , 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p =.003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. (orig.)

[Influential factors on congenital gastrointestinal malformation:a hospital-based case-control study].

Science.gov (United States)

Jiang, Xuejin; Xu, Guang; Shen, Lijun; Wu, Jing; Chen, Hui; Wang, Youjie

2014-01-01

To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention. A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province, from April 2011 to August 2012. Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire. Data was analyzed using SPSS 18.0 software. Congenital gastrointestinal malformation was associated with intakes of maternal medication (OR = 3.35, 95%CI:1.51-7.41) and folic acid (OR = 0.28, 95%CI:0.15-0.52), exposure to paints (OR = 5.05, 95%CI:1.32-19.29) and pesticides (OR = 15.20, 95%CI:1.55-148.99) prior to or during pregnancy, and also associated with medication intake of the father (OR = 3.70, 95% CI:1.13-12.10), smoking (OR = 2.39, 95% CI:1.24-4.62), drinking alcohol (OR = 2.47, 95% CI:1.20-5.07), exposure to the agents for indoor cleaning (OR = 16.42, 95% CI:1.71-157.92) and exposure to paints (OR = 9.92, 95% CI:2.66-36.98) before conception. Congenital gastrointestinal malformation was affected by multiple factors. Potential risk factors for congenital gastrointestinal malformation would include intakes of medication by the pregnant mother, exposure to paints exposure and pesticide exposure before or during pregnancy, and medication intake by the father, smoking, drinking alcohol, exposure to indoor cleaning agents/paint before conception. The amount of folic acid intake by mother before or during pregnancy was likely to reduce the risk for congenital gastrointestinal malformation.

Congenital Pulmonary Malformation in Children

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Montasser Nadeem

2012-01-01

Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

Directory of Open Access Journals (Sweden)

Laura A. Runck

2014-04-01

Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

Intraosseous focal venous malformation of the mandibular body: Cone beam computed tomography planning followed by piezoelectric knife resection and free bone graft reconstruction

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Nikolić Živorad S.

2017-01-01

Full Text Available Introduction. Intraosseous vascular malformation could be life-threatening due to uncontrolled hemorrhage after tooth extraction. According to biological behavior of this lesion, adequate diagnostic and treatment strategies are necessary in order to avoid possible complications. We reported cone beam computed tomography (CBCT planning of an urgent en bloc resection of an intraosseous venous malformation by piezoelectric knife. Case report. A 55-year-old man was submitted to CBCT planning followed by piezoelectric knife resection of an intraosseous focal venous malformation of the mandibular body. Immediate reconstruction of the defect using iliac bone free graft was performed. The surgical treatment was uneventful and a 2-year follow-up revealed no signs of recurrence. Conclusion. Piezoelectric knife could provide precise, safe and bloodless procedure which is especially important in this pathology. Advantages of this technique are: lower risk of damaging soft tissue structures, precise osteotomy and bloodless surgery. Moreover, using piezosurgery bone knife, blood transfusion and blood transmitted diseases could be avoided. This case highlights the importance of CBCT as planning tool for resection of the mandible, using piezoelectric knife as safe method to achieve bloodless surgery. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. 175075

Duplication urétrale épispade: Diagnostic et prise en charge. à ...

African Journals Online (AJOL)

I. Diabaté

Résumé. La duplication urétrale épispade est une malformation génito-urinaire rare. Elle est caractérisée par la juxtaposition dans le plan sagittal de deux urètres, l'un étant l'urètre principal et l'autre accessoire. Les formes symptomatiques se manifestent par un jet urinaire double et le diagnostic est basé sur l'urétro-.

Uterine arteriovenous malformation as a rare cause of genital bleeding

International Nuclear Information System (INIS)

Rodriguez, A.; Escartin, I.; Riazuelo, G.; Zaragozano, R.

2002-01-01

Uterine arteriovenous malformation is a rarely described entity, the presenting sign of which is usually genital bleeding. We report a case of this malformation in a woman of child-bearing age with a history of traumatic delivery and repeated subsequent curettage, describing the ultrasound, computed tomography and magnetic resonance findings, as well as the results of arteriography. (Author) 5 refs

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

Science.gov (United States)

Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

2017-08-10

Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

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Behnaz Moradi

2017-12-01

Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

MRI phenotypes of localized intravascular coagulopathy in venous malformations

Energy Technology Data Exchange (ETDEWEB)

Koo, Kevin S.H. [Boston Children' s Hospital, Department of Radiology, Boston, MA (United States); Dowd, Christopher F.; Hess, Christopher P. [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); Mathes, Erin F.; Frieden, Ilona J. [University of California, San Francisco, Department of Dermatology, San Francisco, CA (United States); Rosbe, Kristina W. [University of California, San Francisco, Department of Otolaryngology, San Francisco, CA (United States); Hoffman, William Y. [University of California, San Francisco, Department of Surgery, San Francisco, CA (United States)

2015-10-15

The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

MRI phenotypes of localized intravascular coagulopathy in venous malformations

International Nuclear Information System (INIS)

Koo, Kevin S.H.; Dowd, Christopher F.; Hess, Christopher P.; Mathes, Erin F.; Frieden, Ilona J.; Rosbe, Kristina W.; Hoffman, William Y.

2015-01-01

The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

Emergency hepatectomy for hepatic arteriovenous malformation combined with pulmonary hypertension in an infant

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Naruhiko Murase

2015-12-01

Full Text Available Patients with hepatic arteriovenous malformations rarely present with pulmonary hypertension. We report the case of a 3-month-old boy who developed severe pulmonary hypertension due to a hepatic arteriovenous malformation. The use of pulmonary vasodilators to treat the patient's pulmonary hypertension worsened his high-output heart failure. This is the first case in which emergency hepatectomy rescued a patient with hepatic arteriovenous malformations who developed pulmonary hypertension.

Screening for congenital heart malformations in child health centres

OpenAIRE

Juttmann, Rikard

1999-01-01

textabstractThe objective of this thesis is to clarify the effectiveness and the efficiency of screening for congenital heart malformations in Dutch child health centres and the possibilities to optimise this prevention programme. To this end the following main questions will be addressed. 1. Does screening for congenital heart malformations, as actually performed in Dutch child health centres, prevent adverse outcomes of these disorders in the short and long run? What would be the answer to ...

Prevalence of brain arteriovenous malformations in first-degree relatives of patients with a brain arteriovenous malformation

NARCIS (Netherlands)

van Beijnum, Janneke; van der Worp, H. Bart; Algra, Ale; Vandertop, W. Peter; van den Berg, René; Brouwer, Patrick A.; van der Sprenkel, Jan Willem Berkelbach; Kappelle, L. Jaap; Rinkel, Gabriël J. E.; Klijn, Catharina J. M.

2014-01-01

It is uncertain whether familial occurrence of brain arteriovenous malformations (BAVMs) represents coincidental aggregation or a shared familial risk factor. We aimed to compare the prevalence of BAVMs in first-degree relatives (FDRs) of patients with BAVM and the prevalence in the general

Maternal smoking in pregnancy and risk for congenital malformations: results of a Danish register-based cohort study.

Science.gov (United States)

Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K; Jensen, Allan

2014-08-01

To examine the association between maternal smoking during pregnancy and risk for congenital malformations. Population-based prospective cohort study. Denmark. A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized estimating equation for binary outcomes, with adjustment for potential confounders. Groups of congenital malformations. Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i.e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid valves, malformations of the great arteries, pyloric stenosis and clubfoot. Infants of women who quit smoking during the first two trimesters had no increased risk for most groups of congenital malformations. Maternal smoking increases the risk for a number of congenital malformations. Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy. © 2014 Nordic Federation of Societies of Obstetrics and Gynecology.

Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

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Brouwer Oebele F

2008-03-01

Full Text Available Abstract Background Fetal spina bifida aperta (SBA is characterized by a spinal meningomyelocele (MMC and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events. The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. Methods Seven fetuses and 1 neonate (16–40 week gestational age, GA with MMC and 6 fetuses with normal cerebral development (22–41 week GA were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US. After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. Results At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21–34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37–40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. Conclusion In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation

Hip malformation is a very common finding in young patients scheduled for total hip arthroplasty

DEFF Research Database (Denmark)

Karimi, Dennis; Kallemose, Thomas; Troelsen, Anders

2018-01-01

and prevalences of hip malformations were; CAM-deformity 50.9 and 25.5%, coxa profunda 33 and 27.4%, acetabular retroversion 33 and 29.2%, and acetabular dysplasia 10.4 and 3.8%. All patients showed minimum of one malformation. Prevalences of Tönnis grade 0-1 were 22.6% and 2-3 were 77.4%. CONCLUSION: All......INTRODUCTION: In Denmark, 20% of all registered total hip arthroplasties (THA) from 1995 to 2014 has been patients younger than 60 years with primary idiopathic osteoarthritis (OA). It is speculated that hip malformations may be a major contributor to early OA development. It has been shown...... that hip malformation may compromise implant position and, therefore, identifying and knowing the incidence of malformations is important. Our aim was to assess the prevalence and type of hip malformations in a cohort of younger patients undergoing THA. MATERIALS AND METHODS: In this prospective two center...

Significant decrease in congenital malformations in newborn infants of an unselected population of diabetic women

DEFF Research Database (Denmark)

Damm, P; Mølsted-Pedersen, L

1989-01-01

In an unselected and consecutive series of 1858 newborn infants of diabetic mothers, born in the Rigshospital, Copenhagen, in the period 1967 to 1986, congenital malformations were studied. The malformation rate in White Classes B to F was remarkably constant from 1967 to 1981, but a significant...... decrease in major congenital malformations was found in the period 1982 to 1986 versus 1977 to 1981 (2.7% vs. 7.4%, p less than 0.05). This decrease was mainly due to a fourfold decline in major congenital malformations in White Classes D and F (p less than 0.01), and consequently a correlation between...... the severity of maternal diabetes and the frequency of congenital malformations was no longer present. In the offspring of a control group of 1715 nondiabetic women, major congenital malformations were found in 1.7% (p greater than 0.05). Seventy-five percent of the diabetic pregnancies were planned...

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

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Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo [Hyogo College of Medicine, Department of Radiology, Nishinomiya, Hyogo (Japan); Shakudo, Miyuki [Osaka City General Hospital, Department of Radiology, Osaka (Japan); Tanaka, Hiroyuki [Hyogo College of Medicine, Department of Gynecology, Nishinomiya (Japan); Minagawa, Kyoko [Hyogo College of Medicine, Department of Pediatrics, Nishinomiya (Japan)

2007-12-15

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

International Nuclear Information System (INIS)

Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo; Shakudo, Miyuki; Tanaka, Hiroyuki; Minagawa, Kyoko

2007-01-01

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

Genetics Home Reference: microcephaly-capillary malformation syndrome

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... and Stroke: Epilepsy Information Page National Institute of Neurological Disorders and Stroke: Microcephaly Educational Resources (7 links) Boston Children's Hospital: Capillary Malformation Boston Children's Hospital: Microcephaly Centers ...

Surgical Treatment of Dermatomal Capillary Malformations in the Adult Face

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Yoojeong Kim

2012-03-01

Full Text Available BackgroundFacial capillary malformations (CMs rarely recede; they often become darker and raised in proportion to their growth. These malformations may hypertrophy in adulthood, resulting in increased disfigurement and dysfunction. Laser treatment is considered a first-line therapy for focal CMs, but thick wide lesions, which are accompanied by hypertrophy and have a well-circumscribed nodularity, may be treated with surgical excision and reconstruction.MethodsWe retrospectively reviewed the records of 25 consecutive patients who had undergone complete or partial excisions of facial capillary malformations in our unit. After the excisions, the defects that encompassed their facial aesthetic units were subsequently covered by various methods, including primary closures, local flaps, expanded flaps, split-thickness skin grafts, and full thickness skin grafts.ResultsThe data demonstrated satisfactory results and reliability. Our patients were treated without significant complications, and all of the patients were moderately or fully satisfied with the outcome of their surgeries.ConclusionsAmong the many reconstructive options for adult patients with facial capillary malformations, thick split-thickness skin grafts can be a good choice for the coverage of widely excised wounds.

The history of female genital tract malformation classifications and proposal of an updated system.

Science.gov (United States)

Acién, Pedro; Acién, Maribel I

2011-01-01

A correct classification of malformations of the female genital tract is essential to prevent unnecessary and inadequate surgical operations and to compare reproductive results. An ideal classification system should be based on aetiopathogenesis and should suggest the appropriate therapeutic strategy. We conducted a systematic review of relevant articles found in PubMed, Scopus, Scirus and ISI webknowledge, and analysis of historical collections of 'female genital malformations' and 'classifications'. Of 124 full-text articles assessed for eligibility, 64 were included because they contained original general, partial or modified classifications. All the existing classifications were analysed and grouped. The unification of terms and concepts was also analysed. Traditionally, malformations of the female genital tract have been catalogued and classified as Müllerian malformations due to agenesis, lack of fusion, the absence of resorption and lack of posterior development of the Müllerian ducts. The American Fertility Society classification of the late 1980s included seven basic groups of malformations also considering the Müllerian development and the relationship of the malformations to fertility. Other classifications are based on different aspects: functional, defects in vertical fusion, embryological or anatomical (Vagina, Cervix, Uterus, Adnex and Associated Malformation: VCUAM classification). However, an embryological-clinical classification system seems to be the most appropriate. Accepting the need for a new classification system of genitourinary malformations that considers the experience gained from the application of the current classification systems, the aetiopathogenesis and that also suggests the appropriate treatment, we proposed an update of our embryological-clinical classification as a new system with six groups of female genitourinary anomalies.

Diagnostic Imaging and Problems of Schizencephaly

International Nuclear Information System (INIS)

Stopa, Joanna; Kucharska-Miąsik, Iwona; Dziurzyńska-Białek, Ewa; Kostkiewicz, Agnieszka; Solińska, Anna; Zając-Mnich, Monika; Guz, Wiesław; Samojedny, Antoni

2014-01-01

Schizencephaly is a rare developmental malformation of the central nervous system associated with cell migration disturbances. Schizencephaly can be uni- or bilateral and is divided into two morphological types. The cleft is defined as type I (“closed lips”) if there are fused clefts in cerebral mantle. In type II (“open lips”) the clefts are separated and filled with cerebrospinal fluid connecting lateral ventricle with the subarachnoid space. We retrospectively analysed data of patients hospitalized in the Clinical Pediatric Neurology Department of Provincial Hospital No. 2 in Rzeszow between 1998–2011. Clinical data and imaging exams were analysed in the group of children with confirmed schizencephaly. Schizencephaly was recognized in 32 children. Diagnosis was made in children at the ages between 2 weeks and 15 years – the majority of older children were born before the year 2000. Diagnostic imaging, most often magnetic resonance imaging, was performed in all of the children. In most cases coexistence of other CNS malformations was discovered. In only one patient there were no neurological symptoms, most of the children presented different developmental disorders and neurological symptoms – most often cerebral palsy and epilepsy. In the group of children with bilateral and type II schizencephaly certain symptoms occurred more often. Schizencephaly is a rare central nervous system developmental disorder, which is very often associated with other severe brain malformations and in most of the cases subsequent multiple neurological symptoms. The method of choice in diagnosis of schizencephaly is magnetic resonance, which shows the degree and type of cleft, coexisting abnormalities and allows differential diagnosis. With the increased availability of this method it is possible to recognize schizencephaly more often and earlier

"COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS"

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P. Borghei S. Abdi

2004-08-01

Full Text Available Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average follow-up period was 27 months. Malformations included one incomplete partition, one common cavity, one narrow internal acoustic canal (IAC in a patient with Riley-Day syndrome and 3 cases of large vestibular aqueduct. All received multi-channel implants either Nucleus 22 or Clarion device. Facial nerve was anomalous in 2 cases. CSF gusher occurred in 4 patients, which was controlled with packing the cochleostomy site. In all cases, the full length of electrode array was inserted, except one with Mondini's dysplasia where insertion failed in the first operation and was referred to another center for a successful surgery on the opposite ear. No other surgical complications were encountered. In 4 cases, all the 22 electrodes could be activated. All patients showed improved hearing performance after implantation. Four showed open-set speech recognition. The one with narrow IAC showed improved awareness to environmental sounds. In the other case (common cavity, the perception tests could not be performed because of very young age. Cochlear implantation in patients with inner ear malformations is a successful way of rehabilitation, although complications should be expected and auditory responses may be highly variable and relatively moderate.

Spine malformation complex in 3 diverse syndromic entities

Science.gov (United States)

Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

2016-01-01

Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

An Incidentally Detected Venous Malformation of the Uterine Cervix: Case Report

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Yeşim Bayoğlu Tekin

2016-01-01

Full Text Available Venous malformations of the uterine cervix are extremely rare. Most lesions are asymptomatic and incidental, however sometimes, they may present with abnormal vaginal bleeding. We aimed to describe a case of venous malformation of the uterine cervix and discuss the differential diagnosis and clinical management of this entity.

Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations

DEFF Research Database (Denmark)

Solem, Espen Victor Jimenez; Andersen, Jon Thor Trærup; Petersen, Morten

2012-01-01

Objectives:To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. DESIGN: Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. SETTING: Denmark...... exposure during pregnancy. RESULTS: The authors identified 848¿786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout...... the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual...

Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development

International Nuclear Information System (INIS)

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

2003-01-01

Disorders of supratentorial cortical development are usually divided into disorders of neuronal proliferation, neuronal migration and cortical organization. Based upon molecular biologic discoveries, a modified classification has recently been proposed. The category of malformations of abnormal neuronal and glial proliferation and apoptosis now includes microlissencephalies, megalencephalies, hemimegalencephalies and cortical dysplasias with balloon cells. Malformations due to abnormal neuronal migration now subsume the lissencephaly spectrum including the subcortical band heterotopias, the cobblestone complex and the group of heterotopias. Malformations due to abnormal cortical organization include the spectrum of polymicrogyria and schizencephaly as well as cortical dysplasias without balloon cells. High-resolution magnetic resonance imaging (MRI) has led to an increasing awareness of these malformations. This article aims to illustrate the classification, MRI presentation and relevant clinical features of the most commonly encountered disorders of cortical development. (orig.) [de

Surgical treatment for a complex congenital arteriovenous malformation of the lower limb.

Science.gov (United States)

Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

2013-01-01

Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surgery was successful without sequelae. The patient returned 2 years later with thrombosis of the great saphenous vein and underwent a second operation. The thrombosed vein and all varicosities were excised successfully. Surgery can be an effective method for correcting complex congenital arteriovenous malformations, especially in the lower limbs. A 2-staged surgical approach like ours might be a good option in suitable patients.

[Cochlear implant in patients with congenital malformation of the inner ear].

Science.gov (United States)

Wan, Liang-cai; Guo, Meng-he; Qian, Yu-hong; Liu, Shuang-xiu; Zhang, Hong-zheng; Chen, Shuai-jun; Chen, Hao; Gong, Jian

2009-10-01

To summarize the clinical experience with multi-channel cochlear implantation in patients with inner ear malformations and evaluate and the outcomes of speech rehabilitation. A retrospective study was conducted in 295 patients receiving cochlear implantation from 1998 to 2007, including 25 patients with large vestibular aqueduct syndrome (LVAS), 9 with Modini malformation, and 5 with common cavity deformity. All the patients received the Nucleus24 cochlear implants. In LVAS cases, 4 had Nucleus 24R (ST) implants, 8 had Contuor implants, 10 had Contuor Advance, and the remaining cases used Nucleus24(M) straight-electrode implants. Severe gusher appeared in 3 cases of LVAS, and perilymph fluctuation were seen in other 15 cases. Four patients with Mondini malformation and 2 with common cavity malformation also experienced severe gusher, but the electrodes were inserted smoothly in all the patients without postoperative facial paralysis or cerebrospinal fluid leakage. The hearing threshold in these patients was similar to that in patients with normal cochlear structure. After speech rehabilitation for over 6 months, the abilities of speech discrimination and spoken language improved in all the cases in comparison with the preoperative lingual functions. Multi-channel cochlear implantation can be performed in patients with inner ear malformation, but should not be attempted in patients with poor cochlear and cochlear nerve development. A comprehensive pre-operative radiographic and audiological evaluation is essential.

Berry syndrome in association with familial limb malformation.

LENUS (Irish Health Repository)

Shahdadpuri, R

2012-02-01

We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

PP-4 ANORECTAL MALFORMATIONS: MOTILITY STUDIES AND RESPONSE TO BIOFEEDBACK THERAPY.

Science.gov (United States)

Bigliardi, Roman N; Ditaranto, A; Reynoso, R; Vidal, J H; Messere, G; Toca, M; Silvestri, G; Ortiz, G; Noriega, S; Varela, A

2015-10-01

Anorectal malformations (ARM) are infrequent anatomic defects with a prevalence of 1 each 5000 alive newborns. Most of the patients repaired of this illness have some degree of constipation or fecal incontinence. There are few reports about manometric studies and biofeedback treatment in patients with anorectal malformations. To evaluate of our population's anorectal functionality late after surgery by anorectal manometry; To study the response to diet, toilet training, and/or biofeedback. Anorectal manometry was done in 39 patients with ARM and 35 of them received combinated treatment of diet, toilet training and biofeedback. Age: 6 to 17 years old. Mean age: 8.05 years. Descriptive study. From april 2004 to april 2015. 14 patients had high malformations(36%), 18 had low malformations(46%) and 7 had cloaca(18%). children over 6 years of age with anorectal malformation operated using Peña's technique (postsagittal anorectoplasty). patients with neurological disorders that do not non-compliant with study and treatment indications. Average resting pressure was 28 mmHg(High level 25,5 and Low level 29,8 mmHg), range between 7 and 51 mmHg. Squeezing pressure between 29 and 120 mmHg(mean:69mmHg). Combined treatment of diet, toilet training, and biofeedback was succesfull to get total continence in 22 patients (4 cloacas, 10 high malformations and 8 low malformations), partial continence in 6(all low) and without response in 3(1 low, 1 high and 1 cloaca); 2 patients archived continence only with toilet training and 2 were lost in follow up(T.Fisher: 0,1). In high ARM 8 had positive(+) rectoanal inhibitory reflex(RAIR) and 6 negative(¬). In cloacas it was (+) in 3, (¬) in 3 and doubtful in 1. In low ARM 15(+), 2 (¬) and 1 doubtful. Reflex was obtained with 20 to 60cc of air(mean 31,36). The RRAI duration was 10 to 17 seconds(mean: 13 seconds).From 22 total continent, RAIR was (+) in 13, (¬) in 7 and hazardous in 2. All 6 partially continent had (+) RAIR; and from 3

Echography of congenital malformations of the central nervous system

International Nuclear Information System (INIS)

Toirac Romani, Carlos Andres; Salmon Cruzata, Acelia; Musle Acosta, Mirelvis; Rosales Fargie, Yamile; Dosouto Infante, Vivian

2010-01-01

A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid

Molecular and cellular biology of cerebral arteriovenous malformations: a review of current concepts and future trends in treatment.

Science.gov (United States)

Rangel-Castilla, Leonardo; Russin, Jonathan J; Martinez-Del-Campo, Eduardo; Soriano-Baron, Hector; Spetzler, Robert F; Nakaji, Peter

2014-09-01

Arteriovenous malformations (AVMs) are classically described as congenital static lesions. However, in addition to rupturing, AVMs can undergo growth, remodeling, and regression. These phenomena are directly related to cellular, molecular, and physiological processes. Understanding these relationships is essential to direct future diagnostic and therapeutic strategies. The authors performed a search of the contemporary literature to review current information regarding the molecular and cellular biology of AVMs and how this biology will impact their potential future management. A PubMed search was performed using the key words "genetic," "molecular," "brain," "cerebral," "arteriovenous," "malformation," "rupture," "management," "embolization," and "radiosurgery." Only English-language papers were considered. The reference lists of all papers selected for full-text assessment were reviewed. Current concepts in genetic polymorphisms, growth factors, angiopoietins, apoptosis, endothelial cells, pathophysiology, clinical syndromes, medical treatment (including tetracycline and microRNA-18a), radiation therapy, endovascular embolization, and surgical treatment as they apply to AVMs are discussed. Understanding the complex cellular biology, physiology, hemodynamics, and flow-related phenomena of AVMs is critical for defining and predicting their behavior, developing novel drug treatments, and improving endovascular and surgical therapies.

Relative risk of hemorrhage during pregnancy in patients with brain arteriovenous malformations

NARCIS (Netherlands)

van Beijnum, Janneke; Wilkinson, Tim; Whitaker, Heather J.; van der Bom, Johanna G.; Algra, Ale; Vandertop, W. Peter; van den Berg, René; Brouwer, Patrick A.; Rinkel, Gabriël Je; Kappelle, L. Jaap; Al-Shahi Salman, Rustam; Klijn, Catharina Jm

2017-01-01

Background It is unclear whether the risk of bleeding from brain arteriovenous malformations is higher during pregnancy, delivery, or puerperium. We compared occurrence of brain arteriovenous malformation hemorrhage in women during this period with occurrence of hemorrhage outside this period during

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

International Nuclear Information System (INIS)

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

2012-01-01

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

ANAESTHETIC MANAGEMENT IN A PATIENT WITH ARNOLD-CHI ARI MALFORMATION TYPE I AND SYRINGOMYELIA

OpenAIRE

Kartika; Pratap; Vijayalaxmi; Kalyan Chakravarthy; Nagaraju

2013-01-01

ABSTRACT: Syringomyelia is an unusual neurological condition characterised by the the presence of cystic cavity in the spinal cord resultin g in neurological manifestations. Here, we report a safe anesthetic management of patient with Arnold-Ch iari malformation type I and syringomyelia posted for foramen magnum decompression . INTRODUCTION: Arnold-Chiari malformation (ACM) is a developmental malformation characterised by downward displacement of cere...

Sirenomelia sequence: early prenatal diagnosis of one rare case associated with acardiac malformation.

Science.gov (United States)

Zanforlin Filho, Sebastião M; Guimarães Filho, Hélio A; Araujo Júnior, Edward; Pires, Cláudio R; Mattar, Rosiane; Nardozza, Luciano M M

2007-04-01

Sirenomelia sequence is a very rare congenital malformation, with incidence of around 1.5-4.2 per 100,000 births. Prenatal diagnosis of sirenomelia in the first trimester is rare; there are only five cases reported for the present, and the association of sirenomelia with acardiac malformation is even rarer. We present a rare case of sirenomelia associated with acardiac malformation detected in the first trimester through combined two-dimensional, three-dimensional and color Doppler sonographies.

Color-coded perfusion analysis of CEUS for pre-interventional diagnosis of microvascularisation in cases of vascular malformations.

Science.gov (United States)

Teusch, V I; Wohlgemuth, W A; Piehler, A P; Jung, E M

2014-01-01

Aim of our pilot study was the application of a contrast-enhanced color-coded ultrasound perfusion analysis in patients with vascular malformations to quantify microcirculatory alterations. 28 patients (16 female, 12 male, mean age 24.9 years) with high flow (n = 6) or slow-flow (n = 22) malformations were analyzed before intervention. An experienced examiner performed a color-coded Doppler sonography (CCDS) and a Power Doppler as well as a contrast-enhanced ultrasound after intravenous bolus injection of 1 - 2.4 ml of a second-generation ultrasound contrast medium (SonoVue®, Bracco, Milan). The contrast-enhanced examination was documented as a cine sequence over 60 s. The quantitative analysis based on color-coded contrast-enhanced ultrasound (CEUS) images included percentage peak enhancement (%peak), time to peak (TTP), area under the curve (AUC), and mean transit time (MTT). No side effects occurred after intravenous contrast injection. The mean %peak in arteriovenous malformations was almost twice as high as in slow-flow-malformations. The area under the curve was 4 times higher in arteriovenous malformations compared to the mean value of other malformations. The mean transit time was 1.4 times higher in high-flow-malformations compared to slow-flow-malformations. There was no difference regarding the time to peak between the different malformation types. The comparison between all vascular malformation and surrounding tissue showed statistically significant differences for all analyzed data (%peak, TTP, AUC, MTT; p < 0.01). High-flow and slow-flow vascular malformations had statistically significant differences in %peak (p < 0.01), AUC analysis (p < 0.01), and MTT (p < 0.05). Color-coded perfusion analysis of CEUS seems to be a promising technique for the dynamic assessment of microvasculature in vascular malformations.

Specific antibodies to detect Tamarillo leaf malformation virus (TALMV) in Tamarillo

International Nuclear Information System (INIS)

Gallo Garcia, Yuliana; Marin Montoya, Mauricio; Gutierrez, Pablo Andres

2011-01-01

In Colombia, yields of Tamarillo are seriously affected by a complex viral disease known as virosis. This pathology was first reported in 1991 in the north of Antioquia and currently affects all Tamarillo growing regions in the country. Recent works have demonstrated the association of two potyviruses (potyviridae) with this disease: potato virus y (PVY) and Tamarillo leaf malformation virus (TALMV, proposed species). Specific diagnostic tools are required for early asymptomatic detection of these viruses and Tamarillo certification programs. In this study, we report the obtention of TALMV specific antibodies using a 15 residues peptide mimicking the n-terminal coat protein. Specificity and sensitivity of the anti-TALMV antibodies was determined by Elisa and dot-blot using recombinant protein and synthetic peptides as controls. The usefulness of these antibodies was validated from a preliminary trial of TALMV detection in plant samples obtained from Tamarillo crops in eastern Antioquia and results were compared with a TALMV specific coat RT-PCR detection protocol.

Prenatal death and malformations after irradiation of mouse zygotes with neutrons or X-rays

International Nuclear Information System (INIS)

Pampfer, S.; Streffer, C.

1988-01-01

Female mice (strain: Heiligenberger Stamm) were irradiated with neutrons (7 MeV) or X-rays when embryos were at the early zygote stage; uterine contents were examined on gestation day 19 for prenatal mortality and malformed fetuses. For both radiation qualities, the dose-dependent survival curve fitted well to a simple exponential equation; the neutron relative biological efficiency (RBE) value was 2.3. The major fraction of deaths induced by exposure to neutrons or X-rays occurred before implantation. Aside from dead embryos, malformed fetuses were observed 19 days p.c. (postconception). The number of malformed fetuses increased with a linear-quadratic function of neutron or X-ray dose. Malformations were mainly gastroschisis, although omphaloceles and anencephalies were also observed. The neutron RBE value for the induction of malformations varied from 2.0 to 2.8 in the dose range tested. Except after 75-cGy neutrons, no significant increase in the proportion of stunted or skeletally malformed fetuses was noted. Our results indicated that the reaction of preimplantation embryos to irradiation could be more complex than the simple all-or-none response considered so far

Combined spinal intramedullary arteriovenous malformation and lipomyelomeningocele

Energy Technology Data Exchange (ETDEWEB)

Weon, Y.C.; Roh, H.G.; Byun, H.S. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology, Seoul (Korea); Chung, J.I. [Medimoa Hospital, Department of Radiology, Seoul (Korea); Eoh, W. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea)

2005-10-01

Combined spinal arteriovenous malformation and lipomyelomeningocele are extremely rare. We present a rare combined case of a lipomyelomeningocele with an intramedullary arteriovenous malformation (AVM) occurred at the L3-L4 level in a 30-year-old man who suffered from low back pain radiating to the lower extremities, dysuria, and frequency for 5 years. The MR studies showed an intradural mass with high-signal intensity on both T1-weighted and T2-weighted images, intermingled with multiple signal-void structures. The mass extended extradurally toward a subcutaneously forming fatty mass on the patient's back. Spinal angiography showed an AVM supplied by the radiculopial branches of the lumbar arteries and drained by tortuous, dilated, perimedullary veins. Endovascular embolization and surgical resection were performed. (orig.)

Aneurysmal malformation of the extrahepatic portal vein: a case report

International Nuclear Information System (INIS)

Lee, Jeong Min; Kang, Sung Soo; Kim, Chong Soo; Han, Hyeun Young

1999-01-01

Aneurysmal malformation of the portal vein is a rare entity. To our knowledge, only scattered reports of portal vein aneurysms appear in the literature in English, and there is no previously published report in Korean. We describe a case exhibiting aneurysmal malformation of the extrahepatic portal vein at the hepatic hilum ; the findings demonstrated by ultrasound, CT and angiography are discussed, a review of previously described cases is included

Atlanto-axial malformation and instability in dogs with pituitary dwarfism due to an LHX3 mutation.

Science.gov (United States)

Voorbij, A M W Y; Meij, B P; van Bruggen, L W L; Grinwis, G C M; Stassen, Q E M; Kooistra, H S

2015-01-01

Canine pituitary dwarfism or combined pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an LHX3 mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an LHX3 mutation, anatomical abnormalities in the atlanto-axial (C1-C2) joint have been described. To evaluate the presence of atlanto-axial malformations in dogs with pituitary dwarfism associated with an LHX3 mutation and to investigate the degree of similarity between the atlanto-axial anomalies found in canine and human CPHD patients with an LHX3 mutation. Three client-owned Czechoslovakian wolfdogs and 1 client-owned German shepherd dog, previously diagnosed with pituitary dwarfism caused by an LHX3 mutation, with neurological signs indicating a cervical spinal disorder. Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology. Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto-axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1-C2 were confirmed at necropsy and histology. The atlanto-axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an LHX3 mutation. These findings suggest an association between the LHX3 mutation in dogs with CPHD and atlanto-axial malformations. Consequently, pituitary dwarfs should be monitored closely for neurological signs. Copyright © 2015 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of American College of Veterinary Internal Medicine.

Transarterial embolization for hematuria caused by renal arteriovenous malformations or fistulae

International Nuclear Information System (INIS)

Meng Xiaoxi; Liu Shiyuan; Dong Weihua; Dong Sheng; Jia Ningyang; Xiao Xiangsheng

2008-01-01

Objective: To evaluate the efficacy and safety of transarterial embolization for hematuria caused by renal arteriovenous malformation or fistulae. Methods: Seven patients with gross hematuria caused by renal arterial abnormalities were retrospectively reviewed, of which three had congenital renal arteriovenous malformations and the other four had non-neoplastic acquired renal arteriovenous fistulae. All patients were confirmed by renal arterial angiography and undergone embolization with various embolic materials. Results: Embolization was successfully carried out in all cases. Gross hematuria disappeared one to seven days after the procedure. No severe complications were encountered. No recurrence occurred within 12 to 36 months of follow-up. Conclusions: Transarterial embolization is safe and effective for hematuria caused by renal arteriovenous malformations or fistulae. (authors)

[Trend of mortality of congenital malformation in children aged <5 years in Beijing, 2006-2015].

Science.gov (United States)

Wang, J; Li, D Y; Zhang, W X; Li, Y C; Wang, J

2017-01-10

Objective: To investigate the change in mortality of congenital malformation in children aged malformation in children aged malformation in the children s decreased from 1.909‰ in 2006 to 0.703‰ in 2015, the decrease rate was 63.17 % . The decrease rate was highest in neonates (71.50 % ) ( χ (2)=57.993, P 0.05), the mortality rates of congenital malformation in the children showed a downward trend in outer suburban area and suburban area ( χ (2) =40.637 and 50.646, P malformation decreased from 32.97 % in 2006 to 23.24 % in 2015, which mainly occurred in infancy and neonatal period ( χ (2)=9.395 and 4.354, P malformations and digestive tract abnormality didn' t decreased significantly ( P >0.05). In the leading causes of deaths from congenital malformation, the mortality of congenital heart disease, neural tube defects and digestive tract atresia decreased obviously ( χ (2)=70.868, 18.431 and 9.225, P 0.05). There was an obvious area specific difference between the deaths of congenital heart disease and the deaths of neural tube defects, the mortality was higher in outer suburbs than in suburban and urban area ( χ (2)=45.783 and 6.649, P malformation in Beijing has declined year by year, it is still the main cause of deaths in children under 5 years old, and the prevention and control of related diseases should be strengthened.

Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

International Nuclear Information System (INIS)

Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

2005-01-01

Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended

Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

Energy Technology Data Exchange (ETDEWEB)

Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

2005-02-01

Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended.

Laser treatment of oral vascular malformations

Science.gov (United States)

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.

Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

Science.gov (United States)

Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

2017-03-01

Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

Cardiovascular malformations in infants of diabetic mothers

OpenAIRE

Wren, C; Birrell, G; Hawthorne, G

2003-01-01

Objective: To compare the prevalence at live birth and the spectrum of cardiovascular malformations in infants born to diabetic mothers with pre-existing diabetes with that in infants of non-diabetic mothers.

[Papillary oedema revealing Arnold Chiari malformation type 1: about a case].

Science.gov (United States)

Imane, Mouhoub; Asmae, Maadane; Toufik, Ramdani; Rachid, Sekhsoukh

2016-01-01

Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.

Facial nerve mapping and monitoring in lymphatic malformation surgery.

Science.gov (United States)

Chiara, Jospeh; Kinney, Greg; Slimp, Jefferson; Lee, Gi Soo; Oliaei, Sepehr; Perkins, Jonathan A

2009-10-01

Establish the efficacy of preoperative facial nerve mapping and continuous intraoperative EMG monitoring in protecting the facial nerve during resection of cervicofacial lymphatic malformations. Retrospective study in which patients were clinically followed for at least 6 months postoperatively, and long-term outcome was evaluated. Patient demographics, lesion characteristics (i.e., size, stage, location) were recorded. Operative notes revealed surgical techniques, findings, and complications. Preoperative, short-/long-term postoperative facial nerve function was standardized using the House-Brackmann Classification. Mapping was done prior to incision by percutaneously stimulating the facial nerve and its branches and recording the motor responses. Intraoperative monitoring and mapping were accomplished using a four-channel, free-running EMG. Neurophysiologists continuously monitored EMG responses and blindly analyzed intraoperative findings and final EMG interpretations for abnormalities. Seven patients collectively underwent 8 lymphatic malformation surgeries. Median age was 30 months (2-105 months). Lymphatic malformation diagnosis was recorded in 6/8 surgeries. Facial nerve function was House-Brackmann grade I in 8/8 cases preoperatively. Facial nerve was abnormally elongated in 1/8 cases. EMG monitoring recorded abnormal activity in 4/8 cases--two suggesting facial nerve irritation, and two with possible facial nerve damage. Transient or long-term facial nerve paresis occurred in 1/8 cases (House-Brackmann grade II). Preoperative facial nerve mapping combined with continuous intraoperative EMG and mapping is a successful method of identifying the facial nerve course and protecting it from injury during resection of cervicofacial lymphatic malformations involving the facial nerve.

Imaging features of ductal plate malformations in adults

Energy Technology Data Exchange (ETDEWEB)

Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

2011-11-15

Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

Diffusion imaging and tractography of congenital brain malformations

International Nuclear Information System (INIS)

Wahl, Michael; Barkovich, A.J.; Mukherjee, Pratik

2010-01-01

Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure. The modality has been used extensively in recent years to investigate the neuroanatomical basis of congenital brain malformations. We review the basic principles of diffusion imaging and of specific techniques, including diffusion tensor imaging (DTI) and high angular resolution diffusion imaging (HARDI). We show how DTI and HARDI, and their application to fiber tractography, has elucidated the aberrant connectivity underlying a number of congenital brain malformations. Finally, we discuss potential uses for diffusion imaging of developmental disorders in the clinical and research realms. (orig.)

Underdiagnosis of Mild Congenital Anorectal Malformations

NARCIS (Netherlands)

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

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

Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

Energy Technology Data Exchange (ETDEWEB)

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

2006-04-15

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

Diagnostic errors in the interpretation of cerebral infarction

International Nuclear Information System (INIS)

Ostertag, C.B.; Mundinger, F.

1978-01-01

Acute and subacute infarcts show a changing pattern and inconstant characteristics up to the fourth week of onset. There is a wide spectrum of other lesions presenting identical alterations in the CT scan. These include tumorous lesions, mostly gliomas (glioblastomas, astrocytomas), demarcating inflammatory lesions (abscesses, viral encephalitis), metastatic lesions, resolving intracerebral hematomas, subdural hematomas, subarachnoid hemorrhages and a.v. malformations. False negative results are frequently found in cases of recent infarcts that present isodense lesions without mass effect. Only consecutive CT scans - native as well as with enhancement - and other diagnostic procedures can help to establish a definite diagnosis. (orig.) [de

Severe Klippel-Feil syndrome with Mondini malformation of inner ear.

Science.gov (United States)

Alaqeel, Aqeel Abdullah

2014-01-01

Klippel-Feil syndrome is defined as the fusion of cervical vertebra with associated congenital anomalies but was rarely reported to be associated with Mondini Malformation. We report a newborn girl with severe neck extension, computed tomography (CT) of the neck after birth showed fusion of the fifth, sixth, and seventh cervical vertebrae, compatible with Klippel-Feil Syndrome and CT temporal bone showed choclear dysplasia with incomplete number of turns that is compatible with Mondini Malformation.

Usher syndrome associated with a variant of Dandy-Walker malformation.

Science.gov (United States)

Simsek, Tulay; Ozdamar, Yasemin; Simsek, Enver; Men, Gamze

2010-05-21

Three cases of Usher syndrome associated with a variant of Dandy-Walker malformation in three siblings from consanguineous Turkish parents are described. The siblings had retinitis pigmentosa and hearing loss. Two of the siblings also had mental retardation, which is not a constant finding in Usher syndrome. Dandy-Walker malformation might have contributed to the mental retardation in two of these patients and might be a coincidental finding with Usher syndrome. Copyright 2010, SLACK Incorporated.

NMR imaging of the anal levator and sphincter muscles in anorectal malformations

International Nuclear Information System (INIS)

Aoyagi, Hiroshi; Takahashi, Hideyo; Maie, Masahiko; Ohnuma, Naomi; Etoh, Takao; Iwai, Jun

1986-01-01

Magnetic resonance imaging (MRI) of the anal levater and sphincter muscles was obtained on 4 normal volunteers and 11 patients with postoperative anorectal malformations (including 8 supra-levator type and 3 low type). Balloon catheter were inserted into the rectum and marked it as the center of a anal canal. Four normal subjects revealed the levater and sphincter muscles were thick and well developed in all sections (Sagittal, Transevse, Coronal). In most of the supra-levator type of anorectal malformations, thin levator and sphincter muscles were observed by Sagittal and Coronal scans. Transeverse scan revealed that the neorectum was not effectively pull-throughed into the puborectal muscle in one patient. Coronal scan showed the dameged external sphincter muscle. In three low types of anorectal malformations, the levator and the sphincter muscles were all well developed, but in one patient the external sphincter muscle existed at the posterior part of the anal canal. These observations were usefull in managing the postoperative care of anorectal malformations. (author)

Risk of congenital malformations among children of construction painters in Denmark

DEFF Research Database (Denmark)

Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig

2015-01-01

OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during...... pregnancy. In Denmark, women comprise half of those enrolled in vocational paint training. We investigated the association between maternal and paternal occupational painting, respectively, and the risk of congenital malformations among children. METHODS: National register data were used to link childbirths...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female...

Vascular permeability in cerebral cavernous malformations

DEFF Research Database (Denmark)

Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao

2015-01-01

Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observ...

Brain Malformations Associated with Knobloch Syndrome – Review of Literature, Expanding Clinical Spectrum and Identification of Novel Mutations

Science.gov (United States)

Caglayan, Ahmet Okay; Baranoski, Jacob F.; Aktar, Fesih; Han, Wengi; Tuysuz, Beyhan; Guzel, Aslan; Guclu, Bulent; Kaymakcalan, Hande; Aktekin, Berrin; Akgumus, Gozde Tugce; Murray, Phillip B.; Omay, E. Zeynep Erson; Caglar, Caner; Bakircioglu, Mehmet; Sakalar, Yildirim Bayezit; Guzel, Ebru; Demir, Nihat; Tuncer, Oguz; Senturk, Senem; Ekici, Baris; Minja, Frank J.; Šestan, Nenad; Yasuno, Katsuhito; Bilguvar, Kaya; Caksen, Huseyin; Gunel, Murat

2014-01-01

BACKGROUND Knobloch syndrome is a rare, autosomal recessive, developmental disorder characterized by stereotyped ocular abnormalities with or without occipital skull deformities (encephalocele, bone defects, cutis aplasia). Although there is clear heterogeneity in clinical presentation, central nervous system malformations, aside from the characteristic encephalocele, have not typically been considered a component of the disease phenotype. METHODS Four patients originally presented for genetic evaluation of symptomatic structural brain malformations. Whole-genome genotyping, whole-exome sequencing, and confirmatory Sanger sequencing were performed. Using immunohistochemical analysis, we investigated the protein expression pattern of COL18A1 in the mid-fetal and adult human cerebral cortex and then analyzed the spatial and temporal changes in the expression pattern of COL18A1 during human cortical development using the Human Brain Transcriptome database. RESULTS We identified two novel homozygous deleterious frame-shift mutations in the COL18A1 gene. Upon further investigation of these patients and their families, we found that many exhibited certain characteristics of Knobloch syndrome, including pronounced ocular defects. Our data strongly support an important role for COL18A1 in brain development and this report contributes to an enhanced characterization of the brain malformations that can result from deficiencies of collagen XVIII. CONCLUSIONS This case series highlights the diagnostic power and clinical utility of whole-exome sequencing technology – allowing clinicians and physician scientists to better understand the pathophysiology and presentations of rare diseases. We suggest that patients who are clinically diagnosed with Knobloch syndrome and/or found to have COL18A1 mutations via genetic screening should be investigated for potential structural brain abnormalities even in the absence of encephaloceles. PMID:25456301

[Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice].

Science.gov (United States)

Gu, Y; Hasegawa, T; Kim, H; Suzuki, I; Mori, T; Yamamoto, Y

2000-12-01

ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2-(alpha-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level.

Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice

International Nuclear Information System (INIS)

Gu, Yeunhwa; Hasegawa, Takeo; Suzuki, Ikukatsu; Mori, Takehiko; Yamamoto, Youichi; Kim, Hwakon

2000-01-01

ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2- (α-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level. (author)

Screening for congenital malformations by ultrasonography in the general population of pregnant women

DEFF Research Database (Denmark)

Tabor, Ann; Zdravkovic, Milica; Perslev, Annette

2003-01-01

. Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most......OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were...... malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not...

Parasitic twin--a supernumerary limb associated with spinal malformations. A case report.

Science.gov (United States)

Sahlu, Abat; Mesfin, Brook; Tirsit, Abenezer; Debebe, Tequam; Wester, Knut

2016-03-01

We describe a case of rachipagus parasitic twin with spinal cord malformations (lipomyelomeningocele and tethered cord) in a 7-month-old Ethiopian infant. The parasitic mass had a well-formed foot, ankle and lower leg and a small sinus that resembled an anus. Magnetic resonance imaging scans revealed spinal malformations including a distal syringohydromyelia. The mass was successfully resected and the dural attachment was closed. Histopathological examination confirmed the diagnosis. Postoperatively, the child had unchanged, intact neurological function in both lower limbs. Almost all rachipagus parasitic twins are associated with spinal malformations. They should, therefore, be operated on by surgeons experienced in myelomeningocele surgery.

Malformations of the midline commissures: MRI findings in different forms of callosal dysgenesis

International Nuclear Information System (INIS)

Kueker, W.; Mader, I.; Naegele, T.; Mayrhofer, H.; Kraegeloh-Mann, I.

2003-01-01

Malformations of the corpus callosum (CC) may occur in many different syndromes. Various forms have been observed. We report seven cases of malformation of the CC. Special attention is directed towards the development of the fornix and hippocampus as a hippocampal commissure is a prerequisite of normal hippocampal development. The clinical disability of the patients presented here differed significantly, which may in part be due to the different extent of this cerebral malformation. The relevance of the concomitant aplasia of the limbic system has not been addressed in detail previously in the literature. (orig.)

Acquired uterine vascular malformations: radiological and clinical outcome after transcatheter embolotherapy

Energy Technology Data Exchange (ETDEWEB)

Maleux, Geert; Heye, Sam; Wilms, Guy [University Hospitals Gasthuisberg, Department of Radiology, Leuven (Belgium); Timmerman, Dirk [University Hospitals Gasthuisberg, Department of Obstetrics and Gynecology, Leuven (Belgium)

2006-02-01

The purpose of this retrospective study is to assess the radiological and clinical outcome of transcatheter embolization of acquired uterine vascular malformations in patients presenting with secondary postpartum or postabortion vaginal hemorrhage. In a cohort of 17 patients (mean age: 29.7 years; standard deviation: 4.23; range: 25-38 years) 18 embolization procedures were performed. Angiography demonstrated a uterine parenchymal hyperemia with normal drainage into the large pelvic veins (''low-flow uterine vascular malformation'') in 83% (n=15) or a direct arteriovenous fistula (''high-flow uterine vascular malformation'') in 17% (n=3). Clinically, in all patients the bleeding stopped after embolization but in 1 patient early recurrence of hemorrhage occurred and was treated by hysterectomy. Pathological analysis revealed a choriocarcinoma. During follow-up (mean time period: 18.8 months; range: 1-36 months) 6 patients became pregnant and delivered a healthy child. Transcatheter embolization of the uterine arteries, using microparticles, is safe and highly effective in the treatment of a bleeding acquired uterine vascular malformation. In case of clinical failure, an underlying neoplastic disease should be considered. Future pregnancy is still possible after embolization. (orig.)

Maternal reproductive history and the risk of isolated congenital malformations.

Science.gov (United States)

Materna-Kiryluk, A; Więckowska, B; Wiśniewska, K; Borszewska-Kornacka, M K; Godula-Stuglik, U; Limon, J; Rusin, J; Sawulicka-Oleszczuk, H; Szwałkiewicz-Warowicka, E; Walczak, M

2011-03-01

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages. © 2011 Blackwell Publishing Ltd.

Is congenital malformation a risk factor for caries development in Swedish adolescents?

Science.gov (United States)

Julihn, Annika; Jansson, Pelle; Regnstrand, Tobias; Modéer, Thomas

2013-11-01

The aim of this study was to investigate whether various forms of congenital malformations are risk factors for approximal caries development in Swedish adolescents. This longitudinal register-based cohort study included all adolescents (n = 18 142) of 13 years of age who resided in the county of Stockholm, Sweden, in 2000. The cohort was followed until individuals were 19 years of age. Dental caries (decayed, missing and filled teeth/surfaces (DMFT/S)) were collected from the Public Health Care Administration in Stockholm. Data concerning pre- and perinatal factors and parental socio-demographic determinants were collected from Swedish National Registers. In a logistic regression analysis, neither congenital malformation nor any sub-group of congenital malformation registered at birth were significantly associated with an enhanced risk of approximal caries increment in adolescents between 13-19 years of age. The final multivariate logistic regression model, adjusted for possible maternal and family socio-demographic confounders, showed that congenital malformation of the 'circulatory system' was significantly associated with a decreased risk of approximal caries increment, between 13-19 years of age (OR = 0.33; 95% CI = 0.12-0.88). Congenital malformation should not be considered as a risk factor for approximal caries development in Swedish adolescents today. Noticeably, adolescents with congenital heart diseases exhibited less risk of developing approximal caries, which was probably related to prevention programs allocated to these children in Sweden.

CONGENITAL MALFORMATIONS OF THE FETUS, INCOMPATIBLE WITH LIFE, STRUCTURE, THEIR COMBINATION WITH CHANGES IN THE PLACENTA

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Екатерина Валерьевна Коломбет

2018-01-01

Conclusion. The structure of the detection of congenital fetal malformations, in the groups studied in the place I have malformations of the cardiovascular system, on the II – defects of the central nervous system, on III – multiple malformations. Often met with malformations of the umbilical cord than the placenta. On the I place among the signs of the pathological structure of the umbilical cord was a thin umbilical cord, on II – the false nodes of the umbilical cord, on III – the true ones.

The posterior urethra in anorectal malformations.

Science.gov (United States)

Mickelson, Jennifer J; MacNeily, Andrew E; Blair, Geoffrey K

2007-03-01

Anorectal malformations are commonly associated with recto-urethral fistulas. Definitive repair of these anomalies may result in injury to the bladder and urethra. Accurate preoperative assessment of the anatomy is imperative to identify the structures and avoid unnecessary injury. This brief report provides radiographic images that demonstrate these anomalies.

Atypical MRI features in soft-tissue arteriovenous malformation: a novel imaging appearance with radiologic-pathologic correlation

Energy Technology Data Exchange (ETDEWEB)

Patel, Anand S. [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); University of California, San Francisco, Department of Interventional Radiology, San Francisco, CA (United States); Schulman, Joshua M.; Ruben, Beth S. [University of California, San Francisco, Departments of Pathology and Dermatology, San Francisco, CA (United States); Hoffman, William Y. [University of California, San Francisco, Department of Plastic Surgery, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States); Dowd, Christopher F. [University of California, San Francisco, Department of Interventional Neuroradiology, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States); Frieden, Ilona J. [University of California, San Francisco, Department of Dermatology, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States); Hess, Christopher P. [University of California, San Francisco, Department of Neuroradiology, Birthmarks and Vascular Anomalies Clinic, San Francisco, CA (United States)

2015-09-15

The absence of a discrete mass, surrounding signal abnormality and solid enhancement are imaging features that have traditionally been used to differentiate soft-tissue arteriovenous malformations from vascular tumors on MRI. We have observed that these findings are not uncommon in arteriovenous malformations, which may lead to misdiagnosis or inappropriate treatment. To estimate the frequency of atypical MRI features in soft-tissue arteriovenous malformations and assess their relationship to lesion size, location, tissue type involved and vascular architecture. Medical records, MRI and histopathology were reviewed in consecutive patients with soft-tissue arteriovenous malformations in a multidisciplinary vascular anomalies clinic. Arteriovenous malformations were divided into those with and without atypical MRI findings (perilesional T2 signal abnormality, enhancement and/or a soft-tissue mass). Lesion location, size, tissue involved and vascular architecture were also compared between groups. Tissue stains were reviewed in available biopsy or resection specimens to assess relationships between MRI findings and histopathology. Thirty patients with treatment-naive arteriovenous malformations were included. Fifteen lesions demonstrated atypical MRI. There was no difference in age, gender, lesion size or involved body part between the groups. However, more than half of the atypical lesions demonstrated multicompartmental involvement, and tiny intralesional flow voids were more common in atypical arteriovenous malformations. Histopathology also differed in atypical cases, showing densely packed endothelial cells with connective tissue architectural distortion and edema. Arteriovenous malformations may exhibit features of a vascular tumor on MRI, particularly when multicompartmental and/or containing tiny internal vessels. These features are important to consider in suspected fast-flow vascular malformations and may have implications with respect to their treatment

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

Science.gov (United States)

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

2013-10-01

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

Subfascial involvement in glomuvenous malformation

Energy Technology Data Exchange (ETDEWEB)

Shaikh, Raja; Alomari, Ahmad I.; Chaudry, Gulraiz [Boston Children' s Hospital, Division of Interventional Radiology, Boston, MA (United States); Mulliken, John B. [Boston Children' s Hospital, Division of Plastic Surgery, Boston, MA (United States); Fishman, Steven J. [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Kozakewich, Harry P.W. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States)

2014-07-15

Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

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

Science.gov (United States)

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.

Use of the direct puncture technique in management of capillaro-venous malformations: case report

Directory of Open Access Journals (Sweden)

Tyagi Isha

2002-03-01

Full Text Available Abstract Background Preoperative devascularization of the capillaro-venous malformations located in the aero-digestive tract is important for surgeons, to minimize blood loss during surgical excision of malformations. Case presentation Here we present two cases of capillaro-venous malformation in which we could successfully achieve preoperative devascularization, by directly injecting n-butyl cyano acrylate into the capillaro-venous bed. This technique is relatively easy, safe and cheap, and can be carried out immediately before surgery.

Long-Term Follow-up After Embolization of Pulmonary Arteriovenous Malformations with Detachable Silicone Balloons

International Nuclear Information System (INIS)

Andersen, Poul Erik; Kjeldsen, Anette D.

2008-01-01

Long-term follow-up results after embolization of 13 pulmonary arteriovenous malformations in 10 patients by use of 14 detachable silicone balloons are given. Patients were followed for a mean of 99 months (range, 63-123 months) with chest x-rays and for a mean of 62 months (range, 3-101 months) with pulmonary angiography. Fifty-four percent of the balloons were deflated at latest radiographic chest film follow-up, but at pulmonary angiographic follow-up all embolized malformations were without flow irrespective of whether or not the balloons were visible. Detachable silicone balloons are not available anymore, but use of these balloons for embolization of pulmonary arteriovenous malformations has been shown to be a safe and precise method, with immediate occlusion of the feeding artery and with long-lasting occlusion, even though many balloons deflate with time, leaving a fibrotic scar replacing the pulmonary arteriovenous malformation. No case of recanalization has been discovered, and these results seem to justify a reduced number of controls of these balloon-embolized malformations

Long-term psychosocial consequences of surgical congenital malformations.

Science.gov (United States)

Diseth, Trond H; Emblem, Ragnhild

2017-10-01

Surgical congenital malformations often represent years of treatment, large number of hospital stays, treatment procedures, and long-term functional sequels affecting patients' psychosocial functioning. Both functional defects and psychosocial difficulties that occur commonly in childhood may pass through adolescence on to adulthood. This overview presents reports published over the past 3 decades to elucidate the long-term psychosocial consequences of surgical congenital malformations. Literature searches conducted on PubMed database revealed that less than 1% of all the records of surgical congenital malformations described long-term psychosocial consequences, but with diverse findings. This inconsistency may be due to methodological differences or deficiencies; especially in study design, patient sampling, and methods. Most of the studies revealed that the functional deficits may have great impact on patients' mental health, psychosocial functioning, and QoL; both short- and long-term negative consequences. Factors other than functional problems, e.g., repeated anesthesia, multiple hospitalization, traumatic treatment procedures, and parental dysfunctioning, may also predict long-term mental health and psychosocial functioning. Through multidisciplinary approach, pediatric surgeons should also be aware of deficits in emotional and psychosocial functioning. To achieve overall optimal psychosocial functioning, the challenge is to find a compromise between physically optimal treatment procedures and procedures that are not psychologically detrimental. Copyright © 2017. Published by Elsevier Inc.

Two Cases of Arnold-Chiari Malformation with Respiratory Failure

Directory of Open Access Journals (Sweden)

Sinem Iliaz

2014-03-01

Full Text Available Arnold–Chiari malformation is defined as downward displacement of the brainstem and cerebellum through the foramen magnum. It has different clinical presentations and four subtypes. It is known that downward migration of posterior fossa components through the foramen magnum and associated lower cranial nerve palsy and brainstem compression can cause respiratory failure. Acute respiratory failure could mark the onset of the disease. Posterior fossa decompression performed to treat primary disease can improve the central sleep abnormalities. As respiratory failure is rarely seen, this paper presents two cases of Arnold–Chiari malformation with respiratory failure.

Cancer risk in siblings of children with congenital malformations

DEFF Research Database (Denmark)

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

2016-01-01

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

Radiographic assessment of congenital malformations of the upper extremity

International Nuclear Information System (INIS)

Winfeld, Matthew J.; Otero, Hansel

2016-01-01

Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

Radiographic assessment of congenital malformations of the upper extremity

Energy Technology Data Exchange (ETDEWEB)

Winfeld, Matthew J. [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Philadelphia, PA (United States); Otero, Hansel [Children' s National Medical Center, Department of Radiology, Washington, DC (United States)

2016-09-15

Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

Congenital malformations among babies born following letrozole or clomiphene for infertility treatment.

Science.gov (United States)

Sharma, Sunita; Ghosh, Sanghamitra; Singh, Soma; Chakravarty, Astha; Ganesh, Ashalatha; Rajani, Shweta; Chakravarty, B N

2014-01-01

Clomiphene citrate (CC) is the first line drug for ovulation induction but because of its peripheral antiestrogenic effect, letrozole was introduced as the 2nd line drug. It lacks the peripheral antiestrogenic effect and is associated with similar or even higher pregnancy rates. Since letrozole is a drug for breast cancer, its use for the purpose of ovulation induction became controversial in the light of studies indicating an increased incidence of congenital malformations. To evaluate and compare the incidence of congenital malformations among offsprings of infertile couples who conceived naturally or with clomiphene citrate or letrozole treatment. A retrospective cohort study done at a tertiary infertility centre. A total of 623 children born to infertile women who conceived naturally or following clomiphene citrate or letrozole treatment were included in this study. Subjects were sorted out from medical files of both mother and newborn and follow up study was done based on the information provided by parents through telephonic conversations. Babies with suspected anomaly were called and examined by specialists for the presence of major and minor congenital malformations. Other outcomes like multiple pregnancy rate and birth weight were also studied. Overall, congenital malformations, chromosomal abnormalities were found in 5 out of 171 (2.9%) babies in natural conception group and 5 out of 201 babies in the letrozole group (2.5%) and in 10 of 251 babies in the CC group (3.9%). There was no significant difference in the overall rate of congenital malformations among children born to mothers who conceived naturally or after letrozole or CC treatment. Congenital malformations have been found to be comparable following natural conception, letrozole and clomiphene citrate. Thus, the undue fear against letrozole may be uncalled for.

Arteriovenous Malformation Detected by Small Bowel Endoscopy

Directory of Open Access Journals (Sweden)

Takaaki Fujii

2014-10-01

Full Text Available Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine.

Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

NARCIS (Netherlands)

Garne, E

Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

Congenital malformations of hands and feet in Smith-Lemli-Opitz syndrome

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N. A. Kovalenko-Klychkova

2013-01-01

Full Text Available Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.

Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study

DEFF Research Database (Denmark)

Jentink, Janneke; Dolk, Helen; Loane, Maria A

2010-01-01

To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.......To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy....

Major congenital malformations in the high and normal level radiation areas of southwest coast of Kerala

International Nuclear Information System (INIS)

Sudheer, K.R.; Jaikrishan, G.; Andrews, V.J.; Koya, P.K.M.; Seshadri, M.; Jagadeesan, C.K.; Madhusoodhanan, M.

2012-01-01

Congenital malformations are defects in organogenesis during the fetal periods and its influence on the individual may vary according to the type of malformation. Some congenital malformations are trivial and may not have any significance but for a minimal cosmetic deformity. Major malformations on the contrary may be severe enough to be life-threatening with serious structural, functional or cosmetic disability requiring surgical or medical management and are an important cause of mortality and morbidity all over the world. The present paper analyses the major malformations detected during the monitoring of newborns in selected government hospitals in and around the high level natural radiation areas of Kerala, a narrow strip of land in the southwest coast extending from Purakkad panchayat of Alapuzha district in the north to Neendakara Panchayat of Quilon district in the south. The coastal area has natural deposits of Monazite sand containing Thorium. Thorium together with its daughter products accounts for the elevated levels of natural radiation. The finding in general was in conformity with similar works on malformations

[Risk for congenital malformations in pregnant women exposed to pesticides in the state od Nayarit, Mexico].

Science.gov (United States)

Medina-Carrilo, L; Rivas-Solis, F; Fernández-Argüelles, R

2002-11-01

To measure the association between the use of pesticides and congenital malformations. We studied 279 newborn from mothers living in rural area of Nayarit, a state in the northwest region of México. Cases (n = 93) were defined as newborn with central nervous, face, genital, hip, foot or finger congenital malformations. Controls (n = 186) were newborns without any malformation. We considered as exposure any type of contact with any of the agrochemicals used as pesticides. We evaluated other risk factors such as medical drugs, fever, exposure to radiation, obstetric and family factors, as confoundings. We registered 22 genital malformations, 20 from hip, 19 from the central nervous system, 18 from extremities and 14 cleft-lip or palate. Exposed mothers had high risk of having a malformed child (OR = 3.5, CI95% 2.05-6.34, p pesticides (OR = 6.33, CI95% 2.95-13.7, p pesticides treatment (OR = 3.47, CI95% 1.91-6.33, p pesticides and congenital malformation. This is a public health problem in Nayarit state and in other rural areas with similar exposure to pesticides.

Congenital malformations in offspring of diabetic women treated with oral hypoglycaemic agents during embryogenesis

DEFF Research Database (Denmark)

Hellmuth, E; Damm, P; Mølsted-Pedersen, L

1994-01-01

A markedly increased risk (50%) of congenital malformations in the offspring of women treated with oral hypoglycaemic agents during the first trimester has recently been reported. With this background, the medical records of a consecutive sample of 25 pregnant Type 2 diabetic women treated...... with oral hypoglycaemic agents during embryogenesis between 1966 and 1991 in the diabetic service of a university hospital, were studied retrospectively. None of the infants had major congenital malformations disclosed in the neonatal period (0%, 97.5% confidence interval 0.0-13.7%), but one minor...... congenital malformation was found (4.0%, 95% confidence interval 0.1-20.3%). Although this study, due to the limited number of pregnancies examined, does not exclude an association between treatment with oral hypoglycaemic agents at the time of embryogenesis and major congenital malformations...

Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome

Directory of Open Access Journals (Sweden)

Jay Desai

2013-01-01

Full Text Available Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.

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

International Nuclear Information System (INIS)

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

2015-01-01

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

[Characteristics of pregnancy and delivery of fetuses affected by either central nervous system malformations or chromosomal abnormalities].

Science.gov (United States)

Friedler, Jordana Mashiach; Mazor, Moshe; Shoham-Vardi, Ilana; Bashiri, Asher

2011-11-01

To determine whether fetuses affected by either chromosomal abnormalities or central nervous system (CNS) malformations are prone to complications during pregnancy and delivery. In this study, 320 singleton pregnancies with CNS malformations and 133 singleton pregnancies with chromosomal abnormaLities were compared with 149,112 singleton births without any known congenital anomalies. Exclusion criteria were: births with other congenital anomalies or malformations, pregnancies Lacking prenatal care and multiple pregnancies. Data was obtained using the computerized birth discharge records. The statistical analysis was performed with the SPSS package. There were no statistically significant differences in maternal age, ethnicity, uterine anomalies or parity. The ratio of general anesthesia was almost double in the study groups compared to the control group: 25% in the CNS malformation group (RR 2.617, CI 2.031-3.372) and 25.6% in the chromosomal abnormality group (RR 2.696, CI 1.825-3.982) and 11.3% in the control group (p malformation group, 20.3% in the chromosomal abnormaLity group and 12% in the control group. A logistic regression model that included previous CS, maLpresentation, non-reassuring fetal heart monitor (NRFHR) and presence of a malformation, concluded that the presence of a malformation was not an independent risk factor for CS. However, indirect causes, such as malpresentation (4.34 OR), were independently associated with the malformations. Fetuses affected by either CNS malformations or chromosomal abnormalities have a higher rate of pregnancy and delivery complications, including those which increase the risk of maternal morbidity and mortality.

Trends over time in congenital malformations in live-born children conceived after assisted reproductive technology.

Science.gov (United States)

Henningsen, Anna-Karina A; Bergh, Christina; Skjaerven, Rolv; Tiitinen, Aila; Wennerholm, Ulla-Britt; Romundstad, Liv B; Gissler, Mika; Opdahl, Signe; Nyboe Andersen, Anders; Lidegaard, Øjvind; Forman, Julie L; Pinborg, Anja

2018-03-23

Children born after assisted reproductive technology, particularly singletons, have been shown to have an increased risk of congenital malformations compared with children born after spontaneous conception. We wished to study whether there has been a change in the past 20 years in the risk of major congenital malformations in children conceived after assisted reproductive technology compared with children spontaneously conceived. Population-based cohort study including 90 201 assisted reproductive technology children and 482 552 children spontaneously conceived, born in Denmark, Finland, Norway and Sweden. Both singletons and twins born after in vitro fertilization, intracytoplasmatic sperm injection and frozen embryo transfer were included. Data on children was taken from when the national Nordic assisted reproductive technology registries were established until 2007. Multiple logistic regression analyses were used to estimate the risks and adjusted odds ratios for congenital malformations in four time periods: 1988-1992, 1993-1997, 1998-2002 and 2003-2007. Only major malformations were included. The absolute risk for singletons of being born with a major malformation was 3.4% among assisted reproductive technology children vs. 2.9% among children spontaneously conceived during the study period. The relative risk of being born with a major congenital malformation between all assisted reproductive technology children and children spontaneously conceived remained similar through all four time periods (p = 0.39). However, we found that over time the number of children diagnosed with a major malformation increased in both groups across all four time periods. When comparing children conceived after assisted reproductive technology and spontaneously conceived, the relative risk of being born with a major congenital malformation did not change during the study period. © 2018 Nordic Federation of Societies of Obstetrics and Gynecology.

Sex and congenital malformations: An international perspective

NARCIS (Netherlands)

Lisi, A.; Botto, L.D.; Rittler, M.; Castilla, E.; Botting, B.; De Walle, H.; Erickson, J.D.; Gatt, M.; De Vigan, C.; Irgens, L.; Johnson, W.; Lancaster, P.; Merlob, P.; Mutchinick, O.M.; Ritvanen, A.; Robert, 28033; Scarano, G.; Stoll, C.; Mastroiacovo, P.

2005-01-01

The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or

Sex and congenital malformations : An international perspective

NARCIS (Netherlands)

Lisi, A; Botto, LD; Rittler, M; Castilla, E; Bianchi, F; Botting, B; De Walle, H; Erickson, JD; Gatt, M; De Vigan, C; Irgens, L; Johnson, W; Lancaster, P; Merlob, P; Mutchinick, OM; Ritvanen, A; Robert, E; Scarano, G; Stoll, C; Mastroiacovo, P

2005-01-01

The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or

Congenital malformations among children of women working with video display terminals

DEFF Research Database (Denmark)

Brandt, L P; Nielsen, C V

1990-01-01

In a case-base study among 214,108 commercial and clerical employees in Denmark the potential effect of the use of video display terminals on the risk of congenital malformations in pregnancy was investigated. The study base was identified by means of register linkage of the Medical Birth Register...... and the National Register of In-Patients. In the source population 24,352 pregnancy outcomes were registered, 661 of which with congenital malformations entered the case group, and a base sample of 2252 pregnancies was drawn. Data concerning the use of video display terminals, job stress, ergonomic factors......, exposure to organic solvents, and life-style factors were obtained from postal questionnaires. The results of this study did not support the hypothesis that the use of video display terminals during pregnancy is associated with an increased risk of congenital malformations....

Extracranial vascular malformation: value of antenatal and postnatal MRI in management

Energy Technology Data Exchange (ETDEWEB)

Roche, C.J.; Pilling, D.W. [Dept. of Radiology, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom); Walkinshaw, S.A. [Dept. of Fetal Medicine, Liverpool Women' s Hospital (United Kingdom); May, P.L. [Dept. of Neurosurgery, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom)

2001-10-01

We report a case where fetal MRI using a low-field-strength magnet (0.5 T) accurately confirmed a large extracranial vascular malformation, which was suspected on antenatal US. Fetal MRI enabled better counselling of the parents and allowed suitable plans to be made regarding method of delivery and early management of the neonate. To our knowledge this is the first case of an extracranial vascular malformation imaged using fetal MRI. (orig.)

The possible association between exposure to air pollution and the risk for congenital malformations.

Science.gov (United States)

Farhi, Adel; Boyko, Valentina; Almagor, Jonatan; Benenson, Itzhak; Segre, Enrico; Rudich, Yinon; Stern, Eli; Lerner-Geva, Liat

2014-11-01

Over the last decade, there is growing evidence that exposure to air pollution may be associated with increased risk for congenital malformations. To evaluate the possible association between exposures to air pollution during pregnancy and congenital malformations among infants born following spontaneously conceived (SC) pregnancies and assisted reproductive technology (ART) pregnancies. This is an historical cohort study comprising 216,730 infants: 207,825 SC infants and 8905 ART conceived infants, during the periods 1997-2004. Air pollution data including sulfur dioxide (SO2), particulate matter air monitoring stations database for the study period. Using a geographic information system (GIS) and the Kriging procedure, exposure to air pollution during the first trimester and the entire pregnancy was assessed for each woman according to her residential location. Logistic regression models with generalized estimating equation (GEE) approach were used to evaluate the adjusted risk for congenital malformations. In the study cohort increased concentrations of PM10 and NOx pollutants in the entire pregnancy were associated with slightly increased risk for congenital malformations: OR 1.06(95% CI, 1.01-1.11) for 10 µg/m(3) increase in PM10 and OR 1.03(95% CI, 1.01-1.04) for 10 ppb increase in NOx. Specific malformations were evident in the circulatory system (for PM10 and NOx exposure) and genital organs (for NOx exposure). SO2 and O3 pollutants were not significantly associated with increased risk for congenital malformations. In the ART group higher concentrations of SO2 and O3 in entire pregnancy were associated (although not significantly) with an increased risk for congenital malformations: OR 1.06(95% CI, 0.96-1.17) for 1 ppb increase in SO2 and OR 1.15(95% CI, 0.69-1.91) for 10 ppb increase in O3. Exposure to higher levels of PM10 and NOx during pregnancy was associated with an increased risk for congenital malformations. Specific malformations were evident in

Prevalence of Active Long-term Problems in Patients With Anorectal Malformations: A Systematic Review.

Science.gov (United States)

Rigueros Springford, Laurie; Connor, Martin J; Jones, Katie; Kapetanakis, Venediktos V; Giuliani, Stefano

2016-06-01

Anorectal malformations are a spectrum of congenital anomalies of the rectum with high infantile survival rates and variable outcomes. Long-term (>10 years old) active problems associated with this condition have been poorly investigated. The purpose of this review was to systematically define the prevalence of the most common active long-term problems in patients with a history of anorectal malformation repair. MEDLINE, EMBASE, and the Cochrane Library were searched electronically using the OVID search platform. Original articles from August 1, 1994, to October 20, 2015, that included outcome data for patients aged ≥10 years with anorectal malformation. Cloaca was excluded from the study. Prevalence estimates of anorectal malformations were obtained from published articles. CIs were ascertained in the logit scale after transforming prevalence into log odds and were then transformed into the original scale. The same method was used for subgroup analysis investigating high and low anorectal malformations. The overall prevalences of fecal, urinary, and sexual dysfunction were analyzed. Twelve studies including 455 patients with a history of anorectal malformation repair were included for analysis. The range of reported prevalence of long-term active problems was as follows: fecal incontinence, 16.7% to 76.7%; chronic constipation, 22.2% to 86.7%; urinary incontinence, 1.7% to 30.5%; ejaculatory dysfunction, 15.6% to 41.2%; and erectile dysfunction, 5.6% to 11.8%. The study was limited by its retrospective, small size; multiple complex associated anomalies often not reported; and heterogeneous composition of patients with limited stratification analysis. There is an overall high prevalence of active long-term issues in adolescents and young adults with anorectal malformations. Additional multicenter research is needed to define characteristics and predictors of long-term outcome, to implement effective follow-up, and to transition to adult health care.

Congenital malformations in paediatric and neurosurgical practices ...

African Journals Online (AJOL)

Congenital malformations in paediatric and neurosurgical practices: problems and pattern (A preliminary report) ... Open Access DOWNLOAD FULL TEXT ... over a 5-year period (1998 to 2002) with congenital anomalies to the Paediatric Surgery and Neurosurgery units of the University Teaching Hospital, Ilorin, Nigeria.

De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of EFNB2 in patients with anorectal malformations

NARCIS (Netherlands)

Dworschak, G.C.; Draaken, M.; Marcelis, C.; Blaauw, I. de; Pfundt, R.P.; Rooij, I.A.L.M. van; Bartels, E.; Hilger, A.; Jenetzky, E.; Schmiedeke, E.; Grasshoff-Derr, S.; Schmidt, D.; Marzheuser, S.; Hosie, S.; Weih, S.; Holland-Cunz, S.; Palta, M.; Leonhardt, J.; Schafer, M.; Kujath, C.; Rissmann, A.; Nothen, M.M.; Zwink, N.; Ludwig, M.; Reutter, H.

2013-01-01

Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects

Exposure to topical chloramphenicol during pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Thomseth, Vilde; Cejvanovic, Vanja; Jimenez-Solem, Espen

2015-01-01

PURPOSE: To investigate whether exposure to topical chloramphenicol in the first trimester of pregnancy is associated with congenital malformations. METHODS: The authors conducted a nationwide cohort study including all women giving live birth between 1997 and 2011 in Denmark. All women redeeming...... included. A total of 6024 women were exposed to topical chloramphenicol in the first trimester. The rate of congenital malformations was 3.50% among offspring of exposed mothers and 3.49% among unexposed. Exposure to topical chloramphenicol in the first trimester was not associated with major congenital...... of chloramphenicol eye drops or eye ointment in the first trimester of pregnancy and major congenital malformations. This is in accordance with a previous study analysing the risk of systemic chloramphenicol....

Kidney anomalies diagnosed by prenatal ultrasound screening and associated non-urinary malformations

DEFF Research Database (Denmark)

Rasmussen, Maria; Olsen, Morten Smærup; Sunde, Lone

2016-01-01

ObjectivesTo estimate the prevalence of kidney anomalies at second trimester ultrasound screening, and furthermore, to investigate pregnancy outcomes and the pattern of additional malformations. MethodsWe previously identified all women attending second-trimester ultrasound scans in Denmark between...... of non-urinary malformations, comparing the prevalences in infants with and without prenatally diagnosed kidney anomalies. ResultsThe prevalence of fetuses with kidney anomalies at second trimester scans was 11.4 per 10000 fetuses. Among the 412 fetuses identified, 127 pregnancies were terminated....... For live born children the prevalence of additional non-urinary malformations was four times higher (95% CI: 3-5) compared with the prevalence among children without prenatal kidney anomalies. Digestive system anomalies were particularly prevalent. ConclusionThese population-based data provide additional...

First-Trimester Pregnancy Exposure to Venlafaxine or Duloxetine and Risk of Major Congenital Malformations

DEFF Research Database (Denmark)

Lassen, Dorte; Ennis, Zandra Nymand; Damkier, Per

2016-01-01

and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort...... studies reporting on the outcome upon in utero exposure to venlafaxine or duloxetine during the first trimester. The cumulated data for venlafaxine were 3186 exposed infants and 107 major malformations, resulting in a relative risk estimate and 95% confidence interval of 1.12 (0.......92-1.35). The corresponding data for duloxetine were 668 infants and 16 major malformations, resulting in a relative risk estimate and 95% confidence interval of 0.80 (0.46-1.29). First-trimester in utero exposure to venlafaxine is not associated with an increased risk of major congenital malformations. The amount of data...

A new strategic neurosurgical planning tool for brainstem cavernous malformations using interactive computer graphics with multimodal fusion images.

Science.gov (United States)

Kin, Taichi; Nakatomi, Hirofumi; Shojima, Masaaki; Tanaka, Minoru; Ino, Kenji; Mori, Harushi; Kunimatsu, Akira; Oyama, Hiroshi; Saito, Nobuhito

2012-07-01

In this study, the authors used preoperative simulation employing 3D computer graphics (interactive computer graphics) to fuse all imaging data for brainstem cavernous malformations. The authors evaluated whether interactive computer graphics or 2D imaging correlated better with the actual operative field, particularly in identifying a developmental venous anomaly (DVA). The study population consisted of 10 patients scheduled for surgical treatment of brainstem cavernous malformations. Data from preoperative imaging (MRI, CT, and 3D rotational angiography) were automatically fused using a normalized mutual information method, and then reconstructed by a hybrid method combining surface rendering and volume rendering methods. With surface rendering, multimodality and multithreshold techniques for 1 tissue were applied. The completed interactive computer graphics were used for simulation of surgical approaches and assumed surgical fields. Preoperative diagnostic rates for a DVA associated with brainstem cavernous malformation were compared between conventional 2D imaging and interactive computer graphics employing receiver operating characteristic (ROC) analysis. The time required for reconstruction of 3D images was 3-6 hours for interactive computer graphics. Observation in interactive mode required approximately 15 minutes. Detailed anatomical information for operative procedures, from the craniotomy to microsurgical operations, could be visualized and simulated three-dimensionally as 1 computer graphic using interactive computer graphics. Virtual surgical views were consistent with actual operative views. This technique was very useful for examining various surgical approaches. Mean (±SEM) area under the ROC curve for rate of DVA diagnosis was significantly better for interactive computer graphics (1.000±0.000) than for 2D imaging (0.766±0.091; pcomputer graphics than with 2D images. Interactive computer graphics was also useful in helping to plan the surgical

Neonatal Hemoperitoneum Secondary to Hemorrhage from Omental Venous Malformation

Directory of Open Access Journals (Sweden)

So-Hyun Nam

2015-12-01

Full Text Available Hemoperitoneum in the neonate is uncommon. We report our experience with a neonate who suddenly developed hemoperitoneum in late gestation. Ascites with right pleural effusion initially suggested fetal hydrops. However, a decrease in hemoglobin with bloody ascites from the paracentesis gave the impression of hemoperitoneum. Ultrasonography and computed tomography showed no abnormality in the solid organs. Using 3-mm laparoscopic exploration, we found the omental mass and excised it. It was histologically confirmed as a venous malformation. Venous malformation of the omentum with significant bleeding requiring exploration is a very rare condition in the neonate, but it should be considered as a cause of neonatal hemoperitoneum.

Diagnostic imaging techniques in Rubinstein-Taybi syndrome

International Nuclear Information System (INIS)

Albanese, A.; Carcione, A.; Benenati, A.; Albano, S.; Rubino, F.P.; Reina, C.; Verde, V.; Giuffre, L.; Corsello, G.; Cammarata, M.; Piccione, M.

1991-01-01

Both etiology and pathogenesis of Rubinstein-Taybi syndrome (RTS) are still questionable, even though a genetic factor seems to be certain. A typical face, psychomotor delay, and thumb and halluces abnormalities (big, prevalently short, and often 'spoon-like' toes) are the main characteristic patterns of RTS. Eight subjects (4 male and 3 female children aged 26 days-7 years, and a 31-year old woman, mother of 1 of the affected children) with different signs of RTS were studied over the last 3 years. The results are here reported, with a special emphasis on malformations detected with conventional radiography (Rx), Computerized Tomography (CT), and ultrasound (US). Evaluated parameters were thumbs and halluces (Rx), bone age and skeleton (Rx), cranium (Rx) and encephalon (US, CT), cryptochidism (US, CT), and urogical (Rx, US) and carciovascolar (US) system. Atypical face and psycomotor delay were found in all cases, while thumb and halluces abnormalities were observed only in 6 cases. Among several clinical signs of RTS, we found: severe (<3rd centile) bone maturation delay in 4 cases; skull volume reduction (<50th centile) in 3 subjects and microcrania in 4; skeletal abnormalities in 7 cases (5 of them positive for bilateral coxofemoral abnormalities); urinary tract (4 cases) and cardiovascular (3 cases) malformation; and cryptorcidism in 3 of 4 males. A case was diagnosed during neonatal period (within the first month of life) it was a rare case associated with a variant form of Dandy-Walker anomaly; semiologic similarities were observed between mother and daughter patients. X-rays, US and CT rarely play an important role in the diagnosis of RTS, considering the several clinical signs, mainly tha face, affecting the patients. However, diagnostic imaging techniques help diagnose hidden malformations and confirm and integrate clinical signs

Diagnostic imaging of the hand. 3. rev. and enl. ed.; Bildgebende Diagnostik der Hand

Energy Technology Data Exchange (ETDEWEB)

Schmitt, Rainer [Herz und Gefaessklinik GmbH, Bad Neustadt (Germany). Klinik fuer Diagnostische und Interventionelle Radiologie; Lanz, Ulrich

2015-07-01

The book on diagnostic imaging of the hand covers the following issues: projection radiography, cinematography, MRT and CR arthrography, arthroscopy, arteriography, skeleton scintiscanning, sonography, computerized tomography, magnetic resonance tomography, anatomy of forearm and carpus, anatomy of metacarpus and fingers, carpal function and morphometry, postoperative X-ray diagnostic, growing hand skeleton, normative variants, malformations and deformities, trauma of the distal forearm, lesions of the ulnocarpal complex (TFCC), scaphoid fractures, scaphoid arthrosis, fractures of other carpus bones, carpal luxations and luxation fractures, carpal instabilities, fractures of the metacarpalla, finger fractures, arthrosis deformans, enthesiopathies, sport induced soft tissue lesions, osteonecrosis, impingement syndromes, osteopenic skeletal diseases, metabolis diseases, crystal-induced osteoarthropaties, rheumatoid arthritis, spondyloarthritis, rheumatic fever, collagenoses, infective arthritis, osteomyelitis, soft tissue infections, cystoids bone lesions, skeletal tumors, soft tissue tumors, carpal tunnel syndrome, nerve compression syndrome, arterial perfusion disturbances, differential diagnostic tables on hand lesions.

Lung Ultrasound Findings in Congenital Pulmonary Airway Malformation.

Science.gov (United States)

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

2018-05-01

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

Outcome of excision of megarectum in children with anorectal malformation.

Science.gov (United States)

Keshtgar, Alireza S; Ward, Harry C; Richards, Catherine; Clayden, Graham S

2007-01-01

Megarectum in association with anorectal malformation contributes to chronic constipation and fecal incontinence. Resection of megarectum in anorectal malformation improves bowel function, but neuropathy and poor sphincter quality may affect the outcome of fecal continence adversely. The aim of this study was to evaluate the benefits of resection of megarectum in anorectal malformation and to ascertain the impact of anal sphincter quality and neuropathy on the outcome. We studied 62 children with intractable fecal incontinence after repair of anorectal malformation between January 1991 and January 2005. All patients were investigated with anorectal manometry and anal endosonography under ketamine anesthesia. On endosonography, an intact or scarred internal anal sphincter (IAS) was classified as good and a fragmented or absent IAS as poor. On manometry, a resting anal sphincter pressure equal to or more than 30 mm Hg was classified as good and a lower pressure as poor. Functional assessment of fecal continence was done before and after excision of megarectum using a modified Wingfield scores. Sixteen children had excision of megarectum with median age of 9 years (range, 2-15 years) and postoperative follow-up of 5 years (range, 1-10 years). Seven had formation of antegrade continent enema stoma before excision of megarectum. Children were classified into three groups of anomalies: low (n = 6), intermediate (n = 4), and high (n = 6). All children were incontinent of feces. After excision of megarectum, of the 9 children with good IAS and no neuropathy, 7 became continent of feces. Of the remaining 7 children, 4 had poor IAS and 3 had neuropathy, 5 of whom required an antegrade continent enema stoma to be clean. Excision of megarectum in children who had previous repair of anorectal malformation results in fecal continence in the presence of a good IAS and absence of neuropathy. Patients with a poor IAS or neuropathy will often require artificial means of fecal

A gene prenature ovarian failure associated with eyelid malformation maps to chromosomes 3q22-q23

Energy Technology Data Exchange (ETDEWEB)

NONE

1996-05-01

Premature ovarian failure and XX gonadal dysgenesis leading to female infertility have been reported in association with an autosomal dominantly inherited malformation of the eyelids: blepharophimosis-ptosis-epicanthus inversus syndrome (BPES; MIM 110100). This association distinguishes BPES type I from BPES type II, in which affected females are fertile and the transmission occurs through both sexes. Recently, a gene responsible for BPES type II has been mapped to chromosome 3q22-q23, and the critical region for the gene location has been reduced to the interval between loci D3S1615 and D3S1316. Hitherto, however, no information regarding the localization of the gene for BPES type I, in which female ovarian failure is associated with eyelid malformation, has been available. We have studied two independent families affected with BPES type I, including a total of 12 affected individuals (6 infertile women) and 6 healthy relatives. The diagnostic criteria for the ophthalmological anomaly included (1) reduced horizontal diameter of palpebral fissures, (2) drooping of the upper eyelids, and (3) an abnormal skinfold running from the lower lids. Telecanthus and a flat nasal bridge were present in most cases. In both families the disease was transmitted only by the male, and no affected woman of childbearing age was fertile. 12 refs., 2 figs., 1 tab.

First evidence of ethylene production by Fusarium mangiferae associated with mango malformation

Science.gov (United States)

Ansari, Mohammad Wahid; Shukla, Alok; Pant, Ramesh Chandra; Tuteja, Narendra

2013-01-01

Malformation is arguably the most crucial disease of mango (Mangifera indica L.) at present. It is receiving great attention not only because of its widespread and destructive nature but also because of its etiology and control is not absolutely understood. Recently, Fusarium mangiferae is found to be associated with mango malformation disease. There are indications that stress ethylene production could be involved in the disease. Here we have shown the first direct evidence of production of ethylene in pure culture of F. mangiferae obtained from mango. The study also revealed that all the isolates dissected from mango acquire morphological features of F. mangiferae showing most similarity to the features of species with accepted standard features. The isolates of F. mangiferae from mango were observed to produce ethylene in significant amounts, ranging from 9.28–13.66 n mol/g dry wt/day. The findings presented here suggest that F. mangiferae could contribute to the malformation of mango by producing ethylene and probably stimulating stress ethylene production in malformed tissue of mango. Ethylene might be produced through 2-oxoglutarate-dependent oxygenase-type ethylene-forming-enzyme (EFE) pathway in Fusarium sp, which needs to be investigated. PMID:23221756

Preoperative diagnosis and surgical strategy in congenital auditory ossicular malformation of 26 ears

International Nuclear Information System (INIS)

Kanazawa, Yuji; Naito, Yasushi; Shinohara, Shogo; Fujiwara, Keizo; Kikuchi, Masahiro; Yamazaki, Hiroshi; Kurihara, Risa; Kishimoto, Ippei

2012-01-01

We retrospectively analyzed 26 ears of 21 subjects having auditory ossicular malformation and who had undergone auditory reconstruction between April 2004 and December 2010 at our clinic. We checked preoperative condition, pathological classification, surgical procedure, and hearing improvement. We could predict pathological conditions precisely from preoperative computed tomography (CT), including incudostapedial disconnection (9/12, 75%) and malleus and/or incus fixation (7/12, 58%), which tended to be present in external ear malformation, and stapes footplate fixation (0/12, 0%). We could not, however, predict complex malformation (0/8, 0%). Overall success was 90% (18/20) in the 20 ears observed for at least 1 year. In the 2 ears without improved hearing, the first had congenital cholesteatoma and no stapes superstructure, was treated with type IV tympanoplasty. The second had malleus, incus, and stapes fixation and discontinuity between the incus and stapes, and was treated with type III tympanoplasty and stapes mobilization. Preoperative diagnosis is difficult in mixed congenital auditory ossicular malformation, especially stapes footplate fixation, possibly requiring unexpected procedures, with a poor hearing outcome. Preoperative status must thus be evaluated precisely using hearing, tympanometry, acoustic reflex test, and CT. Temporal bone CT and external ear findings are useful in diagnosing middle-ear malformation. Subjects' informed consent should also be obtained due to the possible need for changing procedure based on findings during surgery. (author)

Antenatal hemorrhage of a cervical lymphatic malformation presenting as a draining neck mass: An unusual presentation.

Science.gov (United States)

Haricharan, R N; Nawaz, M; Bettolli, M; Ferretti, E

2014-01-01

Lymphatic malformations in the neck can present as large fetal neck masses causing airway obstructions with potential perinatal demise and can pose a therapeutic challenge. We present a rare case of prenatally diagnosed large fetal neck mass with features of lymphatic malformation with intralesional hemorrhage of uncertain origin. Postnatal evaluation showed a complex cystic-solid lesion eroding through the skin with an open wound that made it clinically hard to differentiate from a teratoma. Given that malignancy could not be completely ruled out, surgery was favored. Final pathology showed a complex lymphatic malformation with intralesional hemorrhage, despite having no associated capillary, venous or arterial malformations.

Congenital lung malformations: correlation between prenatal and ...

African Journals Online (AJOL)

Aim: Congenital lung malformations are a common finding during prenatal ultrasonography (US). Investigations were completed by means of prenatal MRI and postnatal computed tomographic (CT) scan. The purpose of this study was to compare these prenatal findings with postnatal findings and pathological findings after ...

Chromosomal investigations in patients with mental retardation and/or congenital malformations

Directory of Open Access Journals (Sweden)

Santos C.B.

2000-01-01

Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

The incidence of congenital malformations and variations in Göttingen minipigs.

Science.gov (United States)

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. Copyright © 2016 Elsevier Inc. All rights reserved.

Early Detection of Fetal Malformation, a Long Distance Yet to Cover! Present Status and Potential of First Trimester Ultrasonography in Detection of Fetal Congenital Malformation in a Developing Country: Experience at a Tertiary Care Centre in India

Directory of Open Access Journals (Sweden)

Namrata Kashyap

2015-01-01

Full Text Available Background. Early detection of malformation is tremendously improved with improvement in imaging technology. Yet in a developing country like India majority of pregnant women are not privileged to get timely diagnosis. Aims and Objectives. To assess the present status and potential of first trimester ultrasonography in detection of fetal congenital structural malformations. Methodology. This was a retrospective observational study conducted at Sanjay Gandhi Postgraduate Institute of Medical Sciences. All pregnant women had anomaly scan and women with fetal structural malformations were included. Results. Out of 4080 pregnant women undergoing ultrasound, 312 (7.6% had fetal structural malformation. Out of 139 patients who were diagnosed after 20 weeks, 47 (33.8% had fetal structural anomalies which could have been diagnosed before 12 weeks and 92 (66.1% had fetal malformations which could have been diagnosed between 12 and 20 weeks. Conclusion. The first trimester ultrasonography could have identified 50% of major structural defects compared to 1.6% in the present scenario. This focuses on the immense need of the hour to gear up for early diagnosis and timely intervention in the field of prenatal detection of congenital malformation.

Clinical and radiological findings in arnold chiari malformation

International Nuclear Information System (INIS)

Khan, A.A.; Bhatti, S.N.; Ahmed, E.; Aurangzeb, A.; Ali, A.; Khan, A.; Afzal, S.; Khan, G.

2010-01-01

Background: The Chiari Malformation I (CMI) is a disorder of uncertain origin that has been traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum. The anomaly is a leading cause of syringomyelia and occurs in association with osseous abnormalities at the cranio vertebral junction. In contrast to other Chiari malformations, CMI tends to present in the second or third decade of life and is sometimes referred to as the 'adult-type' Chiari malformation. The objective was to document clinical and radiological findings in Arnold Chiari Malformation-I. Method: This was a descriptive study carried out in Ayub Teaching Hospital Abbottabad at Neurosurgery Department during July 2008 - July 2010. We examined a prospective cohort of 60 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine. Results: There were 40 female and 20 male patients. The age of onset was 24.9 +- 15.8 years. Common associated radiological problems included syringomyelia (60%), scoliosis (25%), and basilar invagination (12%), increased cervical lordosis 5 (8.5%), and Klippel Feil syndrome 2 (3.3%). The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (70% patients), tonsillar herniation of at least 5 mm (100% patients), and varying degrees of post fossa anomalies. Linical manifestations were headaches, pseudotumor-like episodes, a Meniere's disease-like syndrome, lower cranial nerve signs, and spinal cord disturbances in the absence of syringomyelia. Conclusion: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterised by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible

Clinical and radiological findings in arnold chiari malformation

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Khan, A A; Bhatti, S N; Ahmed, E; Aurangzeb, A; Ali, A; Khan, A; Afzal, S; Khan, G [Ayub Medical College, Abbottabad (Pakistan). Department of Neurosurgery

2010-04-15

Background: The Chiari Malformation I (CMI) is a disorder of uncertain origin that has been traditionally defined as downward herniation of the cerebellar tonsils through the foramen magnum. The anomaly is a leading cause of syringomyelia and occurs in association with osseous abnormalities at the cranio vertebral junction. In contrast to other Chiari malformations, CMI tends to present in the second or third decade of life and is sometimes referred to as the 'adult-type' Chiari malformation. The objective was to document clinical and radiological findings in Arnold Chiari Malformation-I. Method: This was a descriptive study carried out in Ayub Teaching Hospital Abbottabad at Neurosurgery Department during July 2008 - July 2010. We examined a prospective cohort of 60 symptomatic patients. All patients underwent magnetic resonance imaging of the head and spine. Results: There were 40 female and 20 male patients. The age of onset was 24.9 +- 15.8 years. Common associated radiological problems included syringomyelia (60%), scoliosis (25%), and basilar invagination (12%), increased cervical lordosis 5 (8.5%), and Klippel Feil syndrome 2 (3.3%). The most consistent magnetic resonance imaging findings were obliteration of the retrocerebellar cerebrospinal fluid spaces (70% patients), tonsillar herniation of at least 5 mm (100% patients), and varying degrees of post fossa anomalies. Linical manifestations were headaches, pseudotumor-like episodes, a Meniere's disease-like syndrome, lower cranial nerve signs, and spinal cord disturbances in the absence of syringomyelia. Conclusion: These data support accumulating evidence that CMI is a disorder of the para-axial mesoderm that is characterised by underdevelopment of the posterior cranial fossa and overcrowding of the normally developed hindbrain. Tonsillar herniation of less than 5 mm does not exclude the diagnosis. Clinical manifestations of CMI seem to be related to cerebrospinal fluid disturbances (which are responsible

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

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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.

Are congenital malformations more frequent in fetuses with intrahepatic persistent right umbilical vein? A comparative study.

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Adiego-Calvo, Ignacio; Saviron-Cornudella, Ricardo; Martinez-Payo, Cristina; Rubio-Aranda, Encarna; Sancho-Sauco, Javier; Cisneros-Gimeno, Ana Isabel; Perez-Perez, Pilar; Lerma-Puertas, Diego; Whyte-Orozco, Jaime

2016-12-01

Persistent right umbilical vein (PRUV) is a vascular anomaly where the right umbilical vein remains as the only conduit that returns oxygenated blood to the fetus. It has classically been described as associated with numerous defects. We distinguish the intrahepatic variant (better prognosis) and the extrahepatic variant (associated with worse prognosis). The objective of this study was to compare rates of congenital malformations in fetuses with intrahepatic PRUV (I-PRUV) versus singleton pregnancies without risk factors. A multicenter, crossover design, comparative study was performed between 2003 and 2013 on fetuses diagnosed with I-PRUV (n=56), and singleton pregnancies without congenital malformation risk factors (n=4050). Fifty-six cases of I-PRUV were diagnosed (incidence 1:770). A statistically significant association between I-PRUV and the presence of congenital malformations (odds ratio 4.321; 95% confidence interval 2.15-8.69) was found. This positive association was only observed with genitourinary malformations (odds ratio 3.038; 95% confidence interval 1.08-8.56). Our rate of malformations associated with I-PRUV (17.9%) is similar to previously published rates. I-PRUV has shown a significant increase in the rate of associated malformations, although this association has only been found to be statistically significant in the genitourinary system. Noteworthy is the fact that this comparative study has not pointed to a significant increase in the congenital heart malformation rate. Diagnosis of isolated I-PRUV does not carry a worse prognosis. Copyright © 2016. Published by Elsevier B.V.

Gastrointestinal system malformations in children are associated with congenital heart defects.

Science.gov (United States)

Orün, Utku Arman; Bilici, Meki; Demirçeken, Fulya G; Tosun, Mahya; Ocal, Burhan; Cavuşoğlu, Yusuf Hakan; Erdoğan, Derya; Senocak, Filiz; Karademir, Selmin

2011-03-01

To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM. Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM. We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

Venous malformations: MR imaging features that predict skin burns after percutaneous alcohol embolization procedures

International Nuclear Information System (INIS)

Fayad, Laura M.; Hazirolan, Tuncay; Carrino, John A.; Bluemke, David A.; Mitchell, Sally

2008-01-01

To examine the value of magnetic resonance (MR) imaging for predicting the occurrence of skin burns in patients with venous malformations who undergo percutaneous alcohol embolization was the objective of the study. Pre-procedural MR imaging at 1.5 T from 40 patients with venous malformations who had undergone percutaneous alcohol embolization was retrospectively reviewed by two observers for these features: anatomic location, definition (well-defined or ill-defined), and the presence of skin, subcutaneous tissue, muscle, tendon, bone, joint, and deep venous system involvement. One observer recorded the length of skin involvement and volume of the malformation. Univariate and multivariate analysis tests were used to determine whether an association between the occurrence of skin burns and MR imaging features existed. The anatomic locations of the venous malformations were the lower extremity (20 out of 40), upper extremity (11 out of 40), trunk (four out of 40), head/neck (three out of 40) and pelvis (two out of 40). Of the 40 subjects, 15% (six out of 40) experienced skin burns. There was a significant association between the absence of muscle involvement (p=0.0198) as well as the length of skin involvement (p=0.027), with the occurrence of skin burns. Malformation size and all other features were not significantly associated with skin burns. Skin burns in patients with venous malformations treated with alcohol embolization are associated with the length of skin involvement and with the absence of deeper tissue involvement, as depicted on MR imaging. (orig.)

The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child

International Nuclear Information System (INIS)

Sirikci, Akif; Bayazit, Yildirim A.; Bayram, Metin

2001-01-01

Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented

The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child

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Sirikci, Akif E-mail: sirikci@yahoo.com; Bayazit, Yildirim A.; Bayram, Metin

2001-09-01

Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented.

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

Science.gov (United States)

Vivanti, Alexandre; Ozanne, Augustin; Grondin, Cynthia; Saliou, Guillaume; Quevarec, Loic; Maurey, Helène; Aubourg, Patrick; Benachi, Alexandra; Gut, Marta; Gut, Ivo; Martinovic, Jelena; Sénat, Marie Victoire; Tawk, Marcel; Melki, Judith

2018-04-01

See Meschia (doi:10.1093/brain/awy066) for a scientific commentary on this article.Vein of Galen aneurysmal malformation is a congenital anomaly of the cerebral vasculature representing 30% of all paediatric vascular malformations. We conducted whole exome sequencing in 19 unrelated patients presenting this malformation and subsequently screened candidate genes in a cohort of 32 additional patients using either targeted exome or Sanger sequencing. In a cohort of 51 patients, we found five affected individuals with heterozygous mutations in EPHB4 including de novo frameshift (p.His191Alafs*32) or inherited deleterious splice or missense mutations predicted to be pathogenic by in silico tools. Knockdown of ephb4 in zebrafish embryos leads to specific anomalies of dorsal cranial vessels including the dorsal longitudinal vein, which is the orthologue of the median prosencephalic vein and the embryonic precursor of the vein of Galen. This model allowed us to investigate EPHB4 loss-of-function mutations in this disease by the ability to rescue the brain vascular defect in knockdown zebrafish co-injected with wild-type, but not truncated EPHB4, mimicking the p.His191Alafs mutation. Our data showed that in both species, loss of function mutations of EPHB4 result in specific and similar brain vascular development anomalies. Recently, EPHB4 germline mutations have been reported in non-immune hydrops fetalis and in cutaneous capillary malformation-arteriovenous malformation. Here, we show that EPHB4 mutations are also responsible for vein of Galen aneurysmal malformation, indicating that heterozygous germline mutations of EPHB4 result in a large clinical spectrum. The identification of EPHB4 pathogenic mutations in patients presenting capillary malformation or vein of Galen aneurysmal malformation should lead to careful follow-up of pregnancy of carriers for early detection of anomaly of the cerebral vasculature in order to propose optimal neonatal care. Endovascular

Challenges of congenital malformations: an African perspective ...

African Journals Online (AJOL)

Background: Congenital malformations are defects of morphogenesis of organs or body regions identifiable during the intrauterine life or after birth. The etiological factors proposed have varied in history based on prevailing understanding, culture, and religion. Worldwide historically, the role of the supernatural had been in ...

Imaging of cardiovascular malformations in Williams syndrome

International Nuclear Information System (INIS)

Li Shiguo; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Yan Chaowu; Lu Jinguo

2008-01-01

Objective: To evaluate the imaging methods for cardiovascular malformations in Williams syndrome(WS). Methods: Thirteen cases of WS (7 males and 6 females) aged 10 months to 13 years were involved in this study. All patients underwent chest X-ray radiography, electrocardiography, echocardiography and physical examination. 3 cases underwent electronic beam computed tomography (EBCT), cardiac catheterization and angiography were performed in 8 cases. Results: Twelve patients were referred to our hospital for cardiac murmur and 1 case for cyanosis after birth. 7 patients were found with 'elfin-like' facial features, 6 patients with pulmonary arterial stenosis, 2 cases with patent ductus arteriosus, 2 cases with severe pulmonary hypertension and 1 case with total endocardial cushion defect. Sudden death occurred in 2 patients during and after catheterization, respectively. Conclusions: Conventional angiography is the golden standard for the diagnosis of cardiovascular malformations in WS. Noninvasive methods such as MSCT and MRI should be suggested because of the risk of sudden death in conventional angiography. (authors)

Embolization with Gamma Knife Radiosurgery of Giant Intracranial Arteriovenous Malformations.

Science.gov (United States)

Chun, Dong Hyun; Kim, Moo Seong; Kim, Sung Tae; Paeng, Sung Hwa; Jeong, Hae Woong; Lee, Won Hee

2016-01-01

Giant arteriovenous malformations (i.e., those greater than 6 cm maximum diameter or volume > 33 cc) are difficult to treat and often carry higher treatment morbidity and mortality rates. In our study, we reviewed the angiographic results and clinical outcomes for 11 patients with giant arteriovenous malformations who were treated between 1994 and 2012. The patients selected included 9 males (82%) and 2 females (18%). Their presenting symptoms were hemorrhage (n=2; 18%), seizure (n=7; 64%), and headache (n=2; 12%). Nine patients were Spetzler-Martin Grade III, 2 were Spetzler-Martin Grade IV. The mean arteriovenous malformation volume was 41 cc (33-52 cc). The mean age of the patients was 45.1 years (24-57 years) and the mean radiation dose delivered to the margin of the nidus was 14.2 Gy. Ten patients received pre-Gamma Knife radiosurgery embolization and Gamma Knife radiosurgery, 1 patient received pre-Gamma Knife radiosurgery embolization and Gamma Knife radiosurgery twice and the interval between Gamma Knife radiosurgeries was 3 months. The complete obliteration rate following Gamma Knife radiosurgery was 36%, subtotal obliteration ( > 70% decreased size of nidus) was 36%, and partial obliteration was 28%. One patient experienced a small hemorrhage after embolization. Combined embolization and Gamma Knife radiosurgery showed successful obliteration of the arteriovenous malformation nidus. The use of embolization to initially reduce nidus size followed by Gamma Knife radiosurgery improves the treatment results. Repeated Gamma Knife radiosurgery should be a treatment option when there is a small nidus remnant.

Imaging features of lower limb malformations above the foot.

Science.gov (United States)

Bergère, A; Amzallag-Bellenger, E; Lefebvre, G; Dieux-Coeslier, A; Mezel, A; Herbaux, B; Boutry, N

2015-09-01

Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella. Copyright © 2015 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

[Monitoring of pregnancies exposed to drugs in France: the experience of the registries of congenital malformations].

Science.gov (United States)

Doray, Bérénice

2014-01-01

Registries of congenital malformations were implemented in many industrialized countries following the drama of thalidomide. In 2013, four French registries of congenital malformations in France provide the systematic epidemiological surveillance of birth defects. All are part of international networks of registries, especially European surveillance of congenital anomalies (EUROCAT). If the development of prevention actions including prenatal diagnosis has gradually led the registries to play a key role of assessment on the impact of public health policies, one of the major roles of registries of congenital malformations remains early detection of clusters of malformations secondary to teratogenic effects. © 2014 Société Française de Pharmacologie et de Thérapeutique.

[The genetic background for the eye malformations anophthalmia and microphthalmia].

Science.gov (United States)

Roos, Laura Sønderberg; Grønskov, Karen; Jensen, Hanne; Tümer, Zeynep

2012-03-12

Anophthalmia and microphthalmia (AO/MO) are rare congenital eye malformations, in which the eyeball is apparently absent or smaller than normal, which causes various degrees of visual impairment. Over 200 different AO/MO-related syndromes have been described, but the genetic background is unknown in many cases. The aim of this article is to give an overview of AO/MO, focusing on the genetic background. It is illustrated that the future identification of new AO/MO related genes will benefit in the genetic counseling of AO/MO patients, and in the understanding of eye development and congenital eye malformations.

Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

Energy Technology Data Exchange (ETDEWEB)

Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

2010-06-15

Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

Congenital malformation and fetal mortality trends in counties surrounding Oak Ridge

International Nuclear Information System (INIS)

Shank, K.E.; Easterly, C.D.; Oakes, T.W.

1979-12-01

Stillbirth and congenital malformation death data have been evaluated for counties surrounding the Oak Ridge nuclear facilities. The observed values were compared with expected values, based on state of Tennessee and East Tennessee rates, for three time periods: prior to the existence of the nuclear facilities; the early years of operation; and the later years of operation. Oak Ridge, which is the closest city to the nuclear facilities, had significantly fewer stillbirths and no difference in congenital malformations as compared with the state or East Tennessee. No time trend was observed in the 8-county data which could be associated with the higher levels of radioactive releases during the 1944 to 1957 period followed by a period of lesser releases in the 1958 to 1971 period. However, a clustering of stillbirths was found for the last time period. In the study, no significant relationship was found between the occurrence of stillbirths and congenital malformation deaths

Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

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Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

2006-07-15

The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

Utility of spinal MRI in children with anorectal malformation

Energy Technology Data Exchange (ETDEWEB)

Miyasaka, Mikiko; Nosaka, Shunsuke; Tsutsumi, Yoshiyuki [National Centre for Child Health and Development, Radiology, Tokyo (Japan); Kitano, Yoshihiro [Saitama Children' s Medical Centre, Paediatric Surgery, Saitama (Japan); Ueoka, Katsuhiko [National Centre for Child Health and Development, Paediatric Urology, Tokyo (Japan); Kuroda, Tatsuo; Honna, Toshiroh [National Centre for Child Health and Development, Paediatric Surgery, Tokyo (Japan)

2009-08-15

The association between spinal cord anomalies and imperforate anus is well recognized. Until now, the incidence of tethered cord has been assumed to be higher in patients with high-type imperforate anus. However, recent reports suggest that tethered cord is as common in patients with a low lesion as in those with a high lesion. To review the incidence of spinal cord anomalies in those with a low lesion and those with a high (including intermediate) anorectal malformation (ARM), and to determine the best diagnostic imaging strategy. A group of 50 consecutive patients with postoperative ARM and in whom spinal MRI had been performed were identified retrospectively. We reviewed and compared the following factors between those with a high lesion and those with a low lesion: (1) clinical symptoms, (2) spinal cord anomalies, and (3) vertebral anomalies. The incidence of spinal cord anomalies was no different between those with a high lesion and those with a low lesion, and spinal cord anomalies were present regardless of the presence of vertebral anomalies or symptoms. Owing to the high incidence of spinal cord anomalies in patients with imperforate anus, MRI is the best imaging tool for detecting such anomalies regardless of the level of the lesion. (orig.)

[Application of 1% lauromacrogol in the treatment of facial refractory hemangioma and vascular malformations].

Science.gov (United States)

Wang, Yin; Zhu, Fei; Ning, Jin-long; Li, Xiao-jing; Liu, Ye

2012-11-01

To investigate the clinical effect of 1% lauromacrogol for the treatment of facial refractory hemangioma and vascular malformation. From Sept 2009 to Nov 2011, 55 patients (20 male, 35 female, 1 month to 30 years) with different types of facial hemangiorwa and vascular malformation about 1.0 cm x (0. 5-5.0) cm x 10.0 cm in size, underwent 1% lauromacrogol intratumor injection therapy. Generally, the injection dose, concentration, frequency were determined by the age of the patients, the volume and depth of the lesion. The dose was limited to 10 mg every time. The injection interval is 14 weeks. After followed up for 3-16 months, 41 cases were cured, 9 cases were greatly improved, and 5 were partially improved. Skin necrosis happened in only 2 cases. Lauromacrogol is safe, simple and effective as a sderosing agent for the treatment of facial refractory hemangioma and vascular malformation. It provides a new and alternative way for the treatment of facial refractory hemangioma and vascular malformation.

Nannoplankton malformation during the Paleocene-Eocene Thermal Maximum and its paleoecological and paleoceanographic significance

Science.gov (United States)

Bralower, Timothy J.; Self-Trail, Jean

2016-01-01

The Paleocene-Eocene Thermal Maximum (PETM) is characterized by a transient group of nannoplankton, belonging to the genus Discoaster. Our investigation of expanded shelf sections provides unprecedented detail of the morphology and phylogeny of the transient Discoasterduring the PETM and their relationship with environmental change. We observe a much larger range of morphological variation than previously documented suggesting that the taxa belonged to a plexus of highly gradational morphotypes rather than individual species. We propose that the plexus represents malformed ecophenotypes of a single species that migrated to a deep photic zone refuge during the height of PETM warming and eutrophication. Anomalously, high rates of organic matter remineralization characterized these depths during the event and led to lower saturation levels, which caused malformation. The proposed mechanism explains the co-occurrence of malformed Discoaster with pristine species that grew in the upper photic zone; moreover, it illuminates why malformation is a rare phenomenon in the paleontological record.

[A nasal congenital malformation not published in the literature: About 5 cases].

Science.gov (United States)

Colson, T R; Bertrand, B; Degardin, N; Bardot, J; Casanova, D

2017-02-01

Five cases of the same congenital malformation of the nose, affecting the nasal dorsum and the supra-tip, were supported in our university plastic surgery center. This malformation has not been described in the literature known to the authors. The aim of this study is to analyze this nasal deformity. Five children presented this congenital deformity between 1994 and 2014. The patients were examined and the malformation precisely described. Genetic and histological examinations were carried on. The diagnosis and treatment of this pathology were discussed. This malformation associated 4 anomalies: hypertrophy of soft tissue of the dorsum located in the middle third of the nasal bridge, deformed alar cartilages turned back downward and outside, advanced support default and median skin brand similar to a scar. These patients showed no other abnormalities of the midline or respiratory disorders. No genetic disorder was found for these five patients, and no histological arguments were found. Three patients were operated, one until adulthood with a satisfying cosmetic result. Bibliographic research has not allowed us to make an accurate diagnosis of this malformation that appears to be non-syndromic and to have a genetic origin. Our therapeutic approach became more clear and it now seems legitimate to propose early excision of fat mass to prevent alar deformations, associated with a cortico-cancellous graft, which in our experience grows with age, to support the tip. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Multiple cavernous malformations presenting in a patient with Poland syndrome: A case report

Directory of Open Access Journals (Sweden)

De Salles Antonio AF

2011-09-01

Full Text Available Abstract Introduction Poland syndrome is a congenital disorder related to chest and hand anomalies on one side of the body. Its etiology remains unclear, with an ipsilateral vascular alteration (of unknown origin to the subclavian artery in early embryogenesis being the currently accepted theory. Cavernous malformations are vascular hamartomas, which have been linked to a genetic etiology, particularly in familial cases, which commonly present with multiple lesions. Our case report is the first to describe multiple cavernous malformations associated with Poland syndrome, further supporting the vascular etiology theory, but pointing to a genetic rather than a mechanistic factor disrupting blood flow in the corresponding vessels. Case presentation A 41-year-old Caucasian man with Poland syndrome on the right side of his body presented to our hospital with a secondary generalized seizure and was found to have multiple cavernous malformations distributed in his brain, cerebellum, and brain stem, with a predominance of lesions in the left hemisphere. Conclusion The distribution of cavernous malformations in the left hemisphere and the right-sided Poland syndrome in our patient could not be explained by a mechanistic disruption of one of the subclavian arteries. A genetic alteration, as in familial cavernous malformations, would be a more appropriate etiologic diagnosis of Poland syndrome in our patient. Further genetic and pathological studies of the involved blood vessels in patients with Poland syndrome could lead to a better understanding of the disease.

Parenteral exposure to pesticides and occurence of congenital malformations: hospital-based case-control study.

Science.gov (United States)

Ueker, Marly Eliane; Silva, Vivianne Monteiro; Moi, Gisele Pedroso; Pignati, Wanderley Antonio; Mattos, Ines Echenique; Silva, Ageo Mário Cândido

2016-08-12

Most fetal defects are associated with genetic and environmental causes, among them, exposure of pregnant women to intensive pesticide use. Agribusiness is the economic basis of the state of Mato Grosso, the largest consumer of pesticides of all Brazilian states. The objective of this study was to investigate the association between past parental exposure to pesticides and the occurrence of congenital malformations in children in Mato Grosso, Brazil. This hospital-based case-control study was conducted in Cuiabá, the capital of Mato Grosso, from March to October 2011. Data was collected in all public, private, and health plan referral hospitals that provide care for pregnant women in the state of Mato Grosso and were situated in Cuiabá. Cases were children under 5 years of age with congenital malformations classified in Chapter XVIII of the International Classification of Diseases-10 and controls were children within the same age range, without congenital malformations, treated at the same hospitals. Malformation-related data was obtained from the patients' medical records. Socioeconomic data and information about parental exposure to pesticides were obtained in an interview with the mother using a standardized questionnaire. We conducted multivariate logistic regression to assess the relation between parent report of past pesticide use and congenital malformations. We also assessed effect modification to verify whether low maternal education level modified the association between exposure and our outcome. We observed positive effect modification of the association of paternal past exposure to pesticide and congenital malformation in the offspring by maternal education for mothers with low educational level (OR = 8.40, 95 % CI 2.17-32.52), father's work related to farming (OR = 4.65, 95 % CI 1.03-20.98) and paternal past exposure to pesticides (OR = 4.15, 95 % CI 1.24-13.66). These findings provide further evidence that paternal exposure to

Congenital inner ear malformations without sensorineural hearing loss.

Science.gov (United States)

Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

2008-03-01

It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

International Nuclear Information System (INIS)

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

Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

Energy Technology Data Exchange (ETDEWEB)

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.

Cerebellar arteriovenous malformations in children

International Nuclear Information System (INIS)

Griffiths, P.D.; Humphreys, R.P.

1998-01-01

We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.)

Cerebellar arteriovenous malformations in children

Energy Technology Data Exchange (ETDEWEB)

Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

1998-05-01

We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

Inner ear malformations in patients with sensorineural heating loss: detection with gradient-echo (3DFT-CISS) MRI

Energy Technology Data Exchange (ETDEWEB)

Casselman, J.W. [Dept. of Radiology, A.Z. St.-Jan Brugge, Bruges (Belgium); Kuhweide, R. [Dept. of Otorhinolaryngology, A.Z. St.-Jan Brugge, Bruges (Belgium); Ampe, W. [Dept. of Otorhinolaryngology, A.Z. St.-Jan Brugge, Bruges (Belgium); D`Hont, G.D. [Dept. of Otorhinolaryngology, A.Z. St.-Jan Brugge, Bruges (Belgium); Offeciers, E.F. [ENT Dept., Sint-Augustinus Medical Inst., Univ. of Antwerp (Belgium); Faes, W.K. [Dept. of Radiology, A.Z. St.-Jan Brugge, Bruges (Belgium); Pattyn, G. [Dept. of Radiology, A.Z. St.-Jan Brugge, Bruges (Belgium)

1996-04-01

The sensitivity of different MRI sequences in the detection of inner ear malformations in patients presenting with sensorineural hearing loss (SNHL) and/or vertigo was evaluated. We studied 650 patients presenting with SNHL and/or vertigo, clinically not suspected of having inner ear malformations. The sensitivity of T1-weigted, Gd-enhanced T1-weighted and (when available) T2-weighted spin-echo images, and three-dimensional Fourier transformation-constructive interference in steady state (3DFT-CISS) gradient-echo images, to unexpected malformations was assessed. Inner ear malformations were found in 15 (2.3%) of these patients. Enlargement of the endolymphatic duct and sac was the most frequent malformation, found in 11 patients. The 3DFT-CISS images showed all lesions; the other sequences were less sensitive and the pathology was missed, partially or only retrospectively seen in 11 of the 15 patients. Therefore, in addition to the routine unenhanced and Gd-enhanced T1-weighted and T2-weighted images, thin gradient-echo (3DFT-CISS) images are necessary to detect all clinically unexpected inner ear malformations in patients presenting with vertigo and/or SNHL. (orig.)

Inner ear malformations in patients with sensorineural heating loss: detection with gradient-echo (3DFT-CISS) MRI

International Nuclear Information System (INIS)

Casselman, J.W.; Kuhweide, R.; Ampe, W.; D'Hont, G.D.; Offeciers, E.F.; Faes, W.K.; Pattyn, G.

1996-01-01

The sensitivity of different MRI sequences in the detection of inner ear malformations in patients presenting with sensorineural hearing loss (SNHL) and/or vertigo was evaluated. We studied 650 patients presenting with SNHL and/or vertigo, clinically not suspected of having inner ear malformations. The sensitivity of T1-weigted, Gd-enhanced T1-weighted and (when available) T2-weighted spin-echo images, and three-dimensional Fourier transformation-constructive interference in steady state (3DFT-CISS) gradient-echo images, to unexpected malformations was assessed. Inner ear malformations were found in 15 (2.3%) of these patients. Enlargement of the endolymphatic duct and sac was the most frequent malformation, found in 11 patients. The 3DFT-CISS images showed all lesions; the other sequences were less sensitive and the pathology was missed, partially or only retrospectively seen in 11 of the 15 patients. Therefore, in addition to the routine unenhanced and Gd-enhanced T1-weighted and T2-weighted images, thin gradient-echo (3DFT-CISS) images are necessary to detect all clinically unexpected inner ear malformations in patients presenting with vertigo and/or SNHL. (orig.)

A long-Segmental Vascular Malformation in the Small Bowel Presenting With Gastrointestinal Bleeding in a Preschool-Aged Child

International Nuclear Information System (INIS)

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

Associated Malformations in Children with Orofacial Clefts in Portugal: A 31-Year Study

Directory of Open Access Journals (Sweden)

Alice V. Pereira, MD

2018-02-01

Conclusions:. The overall prevalence of associated malformations of nearly 1 in 3 children with orofacial clefts stressed the need for a comprehensive evaluation of these patients by a multidisciplinary cleft team. Moreover, one-third of the children had multiple congenital anomalies of known origins. Thus, early routine screening for other malformations and genetic counseling might be valuable for orofacial clefts management.

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

Directory of Open Access Journals (Sweden)

Ryszard Slezak

2008-04-01

Full Text Available The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood. An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR.

Are congenital malformations more frequent in fetuses with intrahepatic persistent right umbilical vein? A comparative study

Directory of Open Access Journals (Sweden)

Ignacio Adiego-Calvo

2016-12-01

Conclusion: Our rate of malformations associated with I-PRUV (17.9% is similar to previously published rates. I-PRUV has shown a significant increase in the rate of associated malformations, although this association has only been found to be statistically significant in the genitourinary system. Noteworthy is the fact that this comparative study has not pointed to a significant increase in the congenital heart malformation rate. Diagnosis of isolated I-PRUV does not carry a worse prognosis.

Cerebral arteriovenous malformation in Noonan's syndrome.

OpenAIRE

Schon, F.; Bowler, J.; Baraitser, M.

1992-01-01

Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild intel...

Risk of major congenital malformations in relation to maternal overweight and obesity severity: cohort study of 1.2 million singletons.

Science.gov (United States)

Persson, Martina; Cnattingius, Sven; Villamor, Eduardo; Söderling, Jonas; Pasternak, Björn; Stephansson, Olof; Neovius, Martin

2017-06-14

Objective  To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) malformation, and subgroups of organ specific malformations diagnosed during the first year of life. Risk ratios were estimated using generalised linear models adjusted for maternal factors, sex of offspring, and birth year. Results  A total of 43 550 (3.5%) offspring had any major congenital malformation, and the most common subgroup was for congenital heart defects (n=20 074; 1.6%). Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight, 3.5% and 1.05 (95% confidence interval 1.02 to 1.07); obesity class I, 3.8% and 1.12 (1.08 to 1.15), obesity class II, 4.2% and 1.23 (1.17 to 1.30), and obesity class III, 4.7% and 1.37 (1.26 to 1.49). The risks of congenital heart defects, malformations of the nervous system, and limb defects also progressively increased with BMI from overweight to obesity class III. The largest organ specific relative risks related to maternal overweight and increasing obesity were observed for malformations of the nervous system. Malformations of the genital and digestive systems were also increased in offspring of obese mothers. Conclusions  Risks of any major congenital malformation and several subgroups of organ specific malformations progressively increased with maternal overweight and increasing severity of obesity. For women who are planning pregnancy, efforts should be encouraged to reduce adiposity in those with a BMI above the normal range. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

Directory of Open Access Journals (Sweden)

Nikolaos Mouchtouris

2015-01-01

Full Text Available Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics.

Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations

International Nuclear Information System (INIS)

Dompmartin, Anne; Barrellier, Marie-Therese; Blaizot, Xavier; Chene, Yannick; Gaillard, Cathy; Theron, Jacques; Hammer, Frank; Labbe, Daniel; Leroyer, Robert; Chedru, Valerie; Ollivier, Catherine; Vikkula, Miikka; Boon, Laurence M.

2011-01-01

To evaluate the efficacy and safety of gelified ethanol, a newly developed sclerosing agent for slow-flow vascular malformations. Seventy-nine sclerotherapy procedures were performed on 44 patients with 37 venous malformations, 2 glomuvenous malformations, 2 lymphatic malformations, 2 lymphatico-venous malformations, and 1 Klippel-Trenaunay syndrome. The median injected volume was 1.00 mL/site of injection. Effects of sclerotherapy on pain, functional and cosmetic disturbance were statistically evaluated with a final result score. Local and systemic complications were recorded. The mean Visual Analogue Scores were 5.20 ± 2.81 before and 1.52 ± 1.25 after treatment (p < 0.001). Functional and aesthetic improvement was achieved in 31/35 patients (89%) and in 33/41 (80%), respectively. Minor local side effects included necrosis with or without issue of ethylcellulose, palpable residue, and hematoma. No systemic side-effects occurred. Per mL used, radio-opaque gelified ethanol is at least as effective as absolute ethanol. No systemic complication was observed, as only a low dose of ethanol was injected. Indications for sclerotherapy can be widened to areas with higher risk for local side effects (hands and periocular region), as ethanol is trapped in the lesion. Careful injection procedure is though necessary, because only a limited amount of ethylcellulose can be used per puncture. (orig.)

Ten-year detection rate of brain arteriovenous malformations in a large, multiethnic, defined population.

Science.gov (United States)

Gabriel, Rodney A; Kim, Helen; Sidney, Stephen; McCulloch, Charles E; Singh, Vineeta; Johnston, S Claiborne; Ko, Nerissa U; Achrol, Achal S; Zaroff, Jonathan G; Young, William L

2010-01-01

To evaluate whether increased neuroimaging use is associated with increased brain arteriovenous malformation (BAVM) detection, we examined detection rates in the Kaiser Permanente Medical Care Program of northern California between 1995 and 2004. We reviewed medical records, radiology reports, and administrative databases to identify BAVMs, intracranial aneurysms (IAs: subarachnoid hemorrhage [SAH] and unruptured aneurysms), and other vascular malformations (OVMs: dural fistulas, cavernous malformations, Vein of Galen malformations, and venous malformations). Poisson regression (with robust standard errors) was used to test for trend. Random-effects meta-analysis generated a pooled measure of BAVM detection rate from 6 studies. We identified 401 BAVMs (197 ruptured, 204 unruptured), 570 OVMs, and 2892 IAs (2079 SAHs and 813 unruptured IAs). Detection rates per 100 000 person-years were 1.4 (95% CI, 1.3 to 1.6) for BAVMs, 2.0 (95% CI, 1.8 to 2.3) for OVMs, and 10.3 (95% CI, 9.9 to 10.7) for IAs. Neuroimaging utilization increased 12% per year during the time period (PIAs (PIAs (P4) per 100 000 person-years, without heterogeneity between studies (P=0.25). Rates for BAVMs, OVMs, and IAs in this large, multiethnic population were similar to those in other series. During 1995 to 2004, a period of increasing neuroimaging utilization, we did not observe an increased rate of detection of unruptured BAVMs, despite increased detection of unruptured IAs.

Rectal and splenic vascular malformation in klippel trenaunay weber syndrome: A case report

Energy Technology Data Exchange (ETDEWEB)

Kim, Ha Youn; Chang, Yun Woo; Lee, Dong Hwan [Soonchunhyang Univ. Hospital, Seoul (Korea, Republic of)

2012-10-15

Klippel Trenaunay Weber syndrome (KTWS) is a rare congenital disorder, characterized by a cutaneous vascular nevus of the involved extremity, vascular malformations, bone and soft tissue hypertrophy of the extremity. We present the case of an 18 year old female patient with KTWS, showing a marked rectosigmoid wall thickening and phlebolith, and also variable sized cystic masses in the spleen, as a result of vascular malformations.

Epidemiology and Outcome of Major Congenital Malformations in a Large German County.

Science.gov (United States)

Wittekindt, Boris; Schloesser, Rolf; Doberschuetz, Nora; Salzmann-Manrique, Emilia; Grossmann, Jasmin; Misselwitz, Bjoern; Rolle, Udo

2018-05-01

 Congenital malformations are associated with substantial neonatal morbidity and mortality. Furthermore, only sparse data are available on the modalities of care provided to and the associated clinical outcomes in affected neonates. In this study, we focused on five malformations that require surgery during the neonatal period: duodenal stenosis and atresia (DA), gastroschisis (GA), omphalocele (OM), congenital diaphragmatic herniation (CDH), and esophageal atresia (EA).  We reviewed the Hessian neonatal registry (2010-2015) to identify records including the ICD-10 (International Classification of Diseases, Tenth Edition) codes for the aforementioned diagnoses and identified 283 patients who were affected by at least one of these conditions. Multiple regression analyses were performed to further identify risk factors for mortality and extended length of hospital stay.  The incidence rates per 10,000 live births and inhospital mortality rates were as follows: DA: 1.79 and 3.6%; GA: 1.79 and 1.8%; OM: 1.60 and 24%; CDH: 1.32 and 27.5%; and EA: 2.67 and 11.1%, respectively. Thirty-three percent of the patients had not been born in a perinatal center in which corrective surgeries were performed. The following risk factors were significantly associated with early mortality: trisomy 13 and 18, congenital heart defects, prematurity, and high-risk malformations (OM and CDH). The predictors of length of stay were as follows: gestational age, number of additional malformations, and treatment in the center with the highest patient volume.  Epidemiology and outcome of major congenital malformations in Hesse, Germany, are comparable to previously published data. In addition, our data revealed a volume-outcome association with regard to the length of hospital stay. Georg Thieme Verlag KG Stuttgart · New York.

Congenital malformations in 4224 children conceived after IVF

NARCIS (Netherlands)

Anthony, S.; Buitendijk, S. E.; Dorrepaal, C. A.; Lindner, K.; Braat, D. D. M.; den Ouden, A. L.

2002-01-01

BACKGROUND: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. METHODS: We compared overall

Formation and malformation of the enteric nervous system

NARCIS (Netherlands)

J.H.C. Meijers (Johan)

1989-01-01

textabstractTo clarify pathogenetic mechanisms of congenital malformations of the ENS, the formation of the ENS was investigated in chicken and murine embryos. The experimental work was concentrated on several aspects of the interaction between neural crest cells and the enteric microenvironment.

Congenital malformations in 4224 children conceived after IVF.

NARCIS (Netherlands)

Anthony, S.; Buitendijk, S.E.; Dorrepaal, C.A.; Lindner, K.; Braat, D.D.M.; Ouden, A.L. den

2002-01-01

BACKGROUND: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. METHODS: We compared overall

Paediatric ocular and adnexa malformation in Birnin Kebbi ...

African Journals Online (AJOL)

Objectives: Congenital eye and adnexa malformations although rare, are however a major challenge to health professionals in terms of diagnosis. There are also emotional, financial and stigmatization challenges experienced by the patients and their relatives. Appropriate management of these patients requires ...

Congenital malformations in 4224 children conceived after IVF

NARCIS (Netherlands)

Anthony, S.; Buitendijk, S.E.; Dorrepaal, C.A.; Lindner, K.; Braat, D.D.M.; Ouden, A.L. den

2002-01-01

Background: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. Methods: We compared overall

A study of morphogenesis of digital malformation on rat embryo by x-irradiation

International Nuclear Information System (INIS)

Kim, Jhai Dhuck; You, Dong Soo

1981-01-01

The author studied in the effects of x-irradiation to the development of digital malformation in gestation rats. The time-matings occurred between 6 p.m. and 8 a.m. and females with copulation plugs at 8 a.m. were isolated and properly marked for evidence of copulation. The lower abdomen of mothers were exposed to x-irradiation on the 11 1/2th day of gestation, the critical period developing digital malformation, respectively 100, 150, 200, 250, 300 and 350 rads. At 18 1/2th day of post-conception total 50 pregnant females were dissected and the incidence of digital malformations were obtained. Rat embryos on the 12, 13, 14, 15, 16th day of gestation irradiated by 250 rads were examined for morphogenesis of digital malformation. Digital radiating lines were examined in water and histologically by H-E stain. Supra vital stain samples by Nile-blue sulfate in 37 .deg. C normal saline were prepared for the observation of cell necrosis regions and morphogenesis of digits. The results obtained were as follows; 1. By x-irradiation on 11th day of gestation, digital malformations of Ectrodactylia, Syndactylia, Polydactylia and Hematodactylia were developed. Ectrodactylia showed the effective relationship to the amount of irradiation, however Syndactylia and Poydactylia did not. 2. By x-irradiation, cell necrosis of digital germ was appeared markedly, but in 48 hours after irradiation was depressed to the periphery of digital germ and in 72 hours after irradiation was disappeared. Digital radiating line showed marked state of malformation in 48 hours after irradiation and continued to show the same amount of physiological cell necrosis as the compared control group in 72 hours after irradiation. But in the Syndactylia, physiological cell necrosis was not able to be recognized. 3. Ectrodactylia induced by x-irradiation was considered as the direct result of cell necrosis of digital origin, however, Polydactylia and Syndactylia were considered as the result of some effect in

Hereditary hemorrhagic telangiectasia: progress of diagnostic imaging and vascular therapeutic embolization

International Nuclear Information System (INIS)

Lu Chuan; Liu Zuoqin

2008-01-01

Hereditary haemorrhagic telangiectasia (HHT) is a genetic autosomal-dominant disorder characterized by the presence of epistaxis, vascular telangiectasis in mucosal and cutaneous tissues, with visceral lesions and family history. However, many specialists or radiologists are still in lack of appreciation concerning the full range of consequences in diagnosis and their family relationship resulting the poor recognition of the disease. Understanding the diagnostic imaging and therapeutic measure for HHT will be critical, because of the continuous growth and risk existance of these arteriovenous malformations arousing early diagnosis, proper treatment, adequate follow-up and screening of the family. (authors)

Ethnic differences in congenital malformations in the Netherlands: analyses of a 5-year birth cohort

NARCIS (Netherlands)

Anthony, S.; Kateman, H.; Brand, R.; den Ouden, A. L.; Dorrepaal, C. A.; van der Pal-de Bruin, K. M.; Buitendijk, S. E.

2005-01-01

Congenital malformations are among the major causes of perinatal mortality and morbidity at present. Research into the ethnic diversity of congenital malformations can form a basis both for aetiological studies and for health care advice and planning. This study compared the overall prevalence of