Vein of galen malformation

Vein of galen malformation tài liệu, giáo án, bài giảng , luận văn, luận án, đồ án, bài tập lớn về tất cả các lĩnh vực k...

BioMed Central Page 1 of 5 (page number not for citation purposes) Reproductive Health Open Access Case report Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung Ahmet Gul* 1 , Halil Aslan 1 , Altan Cebeci 1 , Yavuz Ceylan 1 and Ali Ismet Tekirdag 2 Address: 1 Maternal and Fetal Unit, Istanbul Bakirkoy Women and Children Hospital, Istanbul, Turkey and 2 Reproductive Medicine Unit, Istanbul Bakirkoy Women and Children Hospital, Istanbul, Turkey Email: Ahmet Gul* - ahmetgul@ttnet.net.tr; Halil Aslan - halil34aslan@hotmail.com; Altan Cebeci - acebeci@hotmail.com; Yavuz Ceylan - yavuzceylan@yahoo.com; Ali Ismet Tekirdag - aliismettekirdag@hotmail.com * Corresponding author Abstract Background: Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management. Case presentation: We present a case of monochorionic triamniotic triplet pregnancy diagnosed at 15 weeks of gestation with one fetus having developed a multicystic lung lesion, suggestive of congenital cystic adenomatoid malformation (CCAM). At 24 weeks, the largest cyst measured 10 mm in diameter. We managed the pregnancy conservatively and delivered three live male fetuses with birth weights 1560 g, 1580 g and 1590 g at 35 weeks of gestation. Two newborns were admitted to the neonatal intensive care unit with respiratory distress, the third one died due to sepsis 7 days postpartum. One of the newborns was discharged healthy at 24 days postpartum. The newborn with CCAM developed a pneumothorax on the right side, recovered after treatment, and was discharged after one month. Computerized tomography (CT) of the infant at 3 months demonstrated two cystic lesions in the middle lobe of the right lung measuring 25 mm and 15 mm. A repeat CT of the infant at 6 months showed a 30 mm solitary cystic mass. Conclusion: Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for CCAM, present rarely and can be managed conservatively. These findings may help in decision making and counselling of parents. Background The prevalence of spontaneous triplet pregnancy is about 1 in 7000 deliveries, but with the increasing availability of assisted reproductive technologies, the rate of high-order multiple pregnancies has risen dramatically over the last 20 years [1,2]. Although multiple births have increased and most of the reported monochorionic triplet pregnan- cies have been conceived by in-vitro-fertilisation, the monochorionic triplet pregnancy is rare, and is estimated to be approximately 1 in 100,000 births [3,4]. Published: 08 April 2005 Reproductive Health 2005, 2:2 doi:10.1186/1742-4755-2-2 Received: 25 September 2004 Accepted: 08 April 2005 This article is available from: http://www.reproductive-health-journal.com/content/2/1/2 © 2005 Gul et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Reproductive Health 2005, 2:2 http://www.reproductive-health-journal.com/content/2/1/2 Page 2 of VEIN OF GALEN MALFORMATION Dr Nguyen Ngoc Pi Doanh Dr Dang Ngoc Dung Contents  Epidemiology  Anatomy  Pathology  Classification  Symptoms  Diagnosis  Treatment  Outcome EPIDEMIOLOGY  Congenital malformation, arteriovenous fistula  Weeks 6-11 of fetal development  Incidence: unknown 1% all intracranial vascular malformations ANATOMY ANATOMY PATHOLOGY CLASSIFICATION CLASSIFICATION (LASJAUNIAS) high fistulas  Choroidal type:: Multiple high-flow  Mural type:: One or few fistulas CLASSIFICATION Yaşargil Heart failure Hydro Hydrocephalus Seizure Mental retardation Treatment - Surgery Johnston HI et al.– Neurosurgery 1987 1987 Mortality: 38-91% - overall group 33-77% - operated group Stanbridge Rde et al., 1983  Mortality : /8 pts Treatment- Endovascular Therapy Evolution of treatment options for vein of Galen malformations ( A review )  1983-2000: 265 pts Evolution of treatment options for vein of Galen malformations ( A review )  2001-2010: 350 pts Timing of treatment Timing of treatment EVALUATION  12: medical treatment  >5 mo Outcome and complications of endovascular embolization for vein of Galen malformations - 34 studies - Neonates: 44% - Infants: 41% - Children & Adult: 12% - Complete : 57% - Partial : 43% Poor: 31% - Outcome: good: 68%Complication: 37% - Mortality: 10%- Complication: Cerebral hemorrhage/ischemia, hydrocephalus, leg ischemia, vessel perforation Outcome Boy, mo Mild heart ailure PAP: 30mmHg Murmur on the ead Case Report Case Report Case Report CONCLUSIONS  A congenital AVF  Untreated  poor outcome  Endovascular therapy is effective, acceptable mortality rate, complications and good clinical outcome Thank you for your attention MINIREVIEW Recent insights into cerebral cavernous malformations: the molecular genetics of CCM Florence Riant 1,2 , Francoise Bergametti 2 , Xavier Ayrignac 2 , Gwenola Boulday 2 and Elisabeth Tournier-Lasserve 1,2 1 AP-HP, Ho ˆ pital Lariboisie ` re, Laboratoire de Ge ´ ne ´ tique, Paris, France 2 INSERM UMR-S 740, Universite ´ Paris 7 Diderot, France Introduction Cerebral cavernous malformations (CCM ⁄ OMIM 116860) are vascular lesions histologically character- ized by abnormally enlarged capillary cavities with- out intervening brain parenchyma. From large series based on necropsy and ⁄ or magnetic resonance imag- ing (MRI) studies, their prevalence in the general population has been estimated to be close to 0.1– 0.5%. Most CCMs are located within the central nervous system but they sometimes affect either the retina or the skin [1]. CCM occur both sporadically and in a familial context. The proportion of familial cases has been esti- mated to be as high as 50% in Hispano-American CCM patients [2] and close to 10–40% in Caucasian patients [1]. The CCM pattern of inheritance is autosomal dominant with incomplete clinical and neuroradiological penetrance. The presence of multiple lesions on cerebral MRI is one of the main features of familial CCM which is an evolutive condition as assessed by the strong correlation between patient age and the number of lesions (Fig. 1) [1–3]. The average age-of-onset is around 30 years but symptoms can start in early infancy or in old age. The main symptoms include seizures and cerebral hemorrhages. Sporadic cases most often have a single lesion on MRI, are not inherited and do not carry a CCM gene germline mutation. However, some CCM patients who have multiple MRI lesions do not have any known clinically affected relative and therefore present as sporadic cases. Combined use of clinical and MRI Keywords angiogenesis; CCM1; CCM2; CCM3; cerebral cavernous malformations; cerebral hemorrhage; KRIT1; PDCD10; stroke; vascular malformations Correspondence E. Tournier-Lasserve, INSERM UMR-S 740; Universite ´ Paris7 Diderot, 10 Avenue du Verdun, 75010 Paris, France Fax: +33 157278594 Tel: +33 157278593 E-mail: tournier-lasserve@univ-paris-diderot.fr (Received 1 August 2009, revised 4 November 2009, accepted 4 December 2009) doi:10.1111/j.1742-4658.2009.07535.x Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1 ⁄ KRIT1, CCM2 ⁄ MGC4607 and CCM3 ⁄ PDCD10. Almost 80% of CCM patients affected with a genetic form of the disease harbor a heterozygous germline mutation in one of these three genes. Recent work has shown that a two- hit mechanism is involved in CCM pathogenesis which is caused by a com- plete loss of any of the three CCM proteins within endothelial cells lining the cavernous capillary cavities. These data were an important step towards the elucidation of the mechanisms of this condition. Abbreviations CCM, cerebral cavernous malformations; MRI, magnetic resonance imaging; PDCD10, Programmed Cell Death 10. 1070 FEBS Journal 277 (2010) 1070–1075 ª 2010 The Authors Journal compilation ª 2010 FEBS screening with molecular testing has helped to clarify what might have first seemed confusing [1]. Three CCM genes have been mapped and identified in the recent years. These molecular genetics data have provided useful information for clinical care of the patients and were an important step towards the understanding of the MINIREVIEW Recent insights into cerebral cavernous malformations: animal models of CCM and the human phenotype Aubrey C. Chan 1 , Dean Y. Li 1,2 , Michel J. Berg 3 and Kevin J. Whitehead 1,2 1 Molecular Medicine Program, University of Utah, Salt Lake City, UT, USA 2 Division of Cardiology, University of Utah, Salt Lake City, UT, USA 3 Department of Neurology, University of Rochester Medical Center, NY, USA Introduction Cerebral cavernous malformation (CCM) is a common vascular disease consisting of clusters of dilated, thin- walled vessels lacking smooth muscle support and prone to hemorrhage. They are found in 1 in 200–250 individuals in the general population [1,2]. Although named for their predilection for the central nervous system (CNS), CCMs are also found in the retina, skin and other organs [3]. CCMs can be sporadic or famil- ial, with the familial form manifesting with earlier onset and a higher number of malformations. The familial form is linked to three genes, KRIT1 (KREV1 ⁄ RAP1A interaction trapped-1 also known as CCM1) [4,5], CCM2 (also known as OSM or Osmo- sensing scaffold for MEKK3) [6–8] and PDCD10 (Pro- grammed cell death 10, also known as CCM3) [9]. The genetics of cavernous malformations is reviewed by Riant et al. [10]. The proteins encoded by these three genes are struc- turally unrelated and lack catalytic domains. Consider- able progress has been made characterizing the interaction partners and the signaling pathways of the CCM proteins. The biochemistry of these pathways is reviewed by Faurobert & Albiges-Rizo [11]. Although such basic mechanistic studies are necessary to come to a more complete understanding of the underlying cellular processes that lead to disease, these studies are difficult to interpret without the context of in vivo cor- relation. Furthermore, these studies have been per- formed in a variety of cell types, both primary cultures and established laboratory cell lines. An understanding Keywords animal model; cavernous angioma; CCM; CCM2; cerebral cavernous malformation; Krit1; mouse model; OSM; PDCD10; zebrafish Correspondence K. J. Whitehead, Molecular Medicine Program, University of Utah, 15 N. 2030 East, Salt Lake City, UT 84112, USA Fax: +1 801 585 0701 Tel: +1 801 585 1694 E-mail: kevin.whitehead@hsc.utah.edu (Received 8 September 2009, revised 5 November 2009, accepted 6 November 2009) doi:10.1111/j.1742-4658.2009.07536.x Cerebral cavernous malformations are common vascular lesions of the cen- tral nervous system that predispose to seizures, focal neurologic deficits and potentially fatal hemorrhagic stroke. Human genetic studies have iden- tified three genes associated with the disease and biochemical studies of these proteins have identified interaction partners and possible signaling pathways. A variety of animal models of CCM have been described to help translate the cellular and biochemical insights into a better understanding of disease mechanism. In this minireview, we discuss the contributions of animal models to our growing understanding of the biology of cavernous malformations, including the elucidation of the cellular context of CCM protein actions and the in vivo confirmation of abnormal endothelial cell– cell interactions. Challenges and progress towards developing a faithful model of CCM biology are reviewed. Abbreviations CCM, cerebral cavernous malformations; CNS, central nervous system; MEKK3, mitogen-activated protein kinase kinase kinase. 1076 Advances in Bioscience and Biotechnology, 2011, 2, 226-232 doi:10.4236/abb.2011.24033 Published Online August 2011 (http://www.SciRP.org/journal/abb/ ABB ). Published Online August 2011 in SciRes. http://www.scirp.org/journal/ABB Molecular identification of mango malformation pathogens in Egypt Wafaa Mohamed Haggag 1* , Mahmoud Hazza 2 , Mahmoud Saker 3 , Mohamed Abd El-Wahab 1 1 Department of Plant Pathology National Research Center, Cairo, Egypt; 2 Science Faculty, Botany Department, Banha University, Banha, Egypt; 3 Department of Plant Biotechnology, National Research Center, Cairo, Egypt. Email: * wafaa_haggag@yahoo.com Received 16 February 2011; revised 21 May 2011; accepted 7 June 2011. ABSTRACT Diagnostic tests by molecular biology is made for studying the relations among Fusarium species for linking production of proteins, degree of relationship and occurrence of malformation. Determination of proteins for isolates causing-disease by SDS-PAGE explained there’s specific band for each fungus and there are common bands among some isolates of fungi. Since, band with MW 30 KDa represented only in F. proliferatum and F. oxysporum and F. subgluti- nans respectively. This band considered as specific band for these isolates, which released high patho- genisity effect. RAPD-PCR markers were used to discriminate variations between Fusarium isolates and causing disease. There is specific band for each fungus which act as molecular marker for each fun- gus and there are some bands common among some isolates of pathogenic fungi. The dendrogram shows there is degree of relationship between F. sterilihy- phosum and F. proliferatum; between F. moniliforme and F. subglutinans; between F. oxysporum and F. chlamydospore; the degree of relationship among F. subglutinans, F. proliferatum and F. sterilihyphosum and degree of relationship among F. moniliforme, F. sterilihyphosum, F. proliferatum and F. subglutinans Keywords: Fusarium Spp.; Mango Malformation 1. INTRODUCTION Mango (Mangifera indica L.) is the most important fruit grown in tropical and subtropical region of the world. Mango is the most important fruit crop in Egypt. Mango malformation is one of the most destructive mango dis- eases [1]. Losses due to malformation have not been accurately assessed because yield loss is not a linear function of disease severity [2]. A number of Fusarium species has been reported to be associated with the mal- formation disease of mango [3]. Some Fusarium species especially those insection Liseola and their allied, identi- fication process based solely on morphological charac- teristics are not always convincing and still incomplete and inconclusive. Therefore, molecular characterization can be used as additional criteria for species characteri- zation and identification. Genetic diversity was exam- ined among 74 F. subglutinans—like isolates from mal- formed mango in Brazil, Egypt, Florida (USA), India, Israel and South Africa. With nitrate-non-utilizing (nit) auxotrophic mutants, seven vegetative compatibility groups (VCGs) were identified. Three of the VCGs were found in a single country, and VCG diversity was greatest in Egypt and the USA where, respectively, four and three different VCGs were found. RAPD profiles generated with arbitrary decamer primers were variable among iso- lates in different VCGs, but were generally uniform for isolates within a VCG. In PCR assays, a 20-mer primer pair that was developed previously to identify F. subglu- tinans from maize (mating population (MP-E) of the Gibberella fujikuroi complex) also amplified a specific 448 bp fragment for isolates -2851$/ 2) 9H W H U L Q D U \  6FLHQFH J. Vet. Sci. (2003), / 4 (3), 205–208 Left costocervical vein malformation with anomalous ramification of aortic arch in a dog Young Sam Nam, Choong Hyun Lee, Dae Won Chung, Yeo Sung Yoon, Heungshik S. Lee* and In Se Lee* Department of Anatomy and Cell Biology, College of Veterinary Medicine and School of Agricultural Biotechnology, Seoul National University, Seoul 151-742, Korea This report describes coexistence of anomalous branches of the aortic arch and the costocervical vein malformation in a German shepherd dog. The first branch of the aortic arch was a bicarotid trunk that divided into the left and right common carotid arteries. The next branch to leave the aortic arch was a common trunk for the right and left subclavian arteries, a bisubclavian trunk, which was immediately bifurcated. The right subclavian artery passed over the esophagus forming a deep groove, so-called incomplete vascular ring on the dorsal wall of the esophagus. Although the esophagus was constricted by the right subclavian artery dorsally and by the trachea ventrally, no clinical symptoms of esophageal obstruction and dysphagia were observed. The left costocervical vein coursed caudoventrally, passed over the aortic arch, and entered the left ventricle. This vessel was much smaller than the right costocervical vein and was partially occluded at its origin. Key words: anomaly, aortic arch, costocervical vein, german shepherd dog Introduction Anomalous branching patterns of the aortic arch and termination of the left costocervical vein were encountered in a dog cadaver in the dissecting room at the College of Veterinary Medicine, Seoul National University. Anomalies in the great vessels and of the heart are of interest from the surgical point of view, and many reports on anomalous aortic arches and their tributaries in animals and humans have been published [3,10,14,15,19,22]. During normal embryonic development, the formation of the arterial system involves modifications of the ventral aorta, the dorsal aorta, and six paired aortic arches. The ventral aorta between the third and fourth arches form the left and right common carotid arteries, while the paired dorsal aorta fuse to form the descending aorta. The fourth aortic archs persist on both sides, but its fate is different on each side. The left fourth aortic arch forms the aortic arch between the left common carotid and the left subclavian arteries, while the right fourth aortic arch forms the proximal segment of the right subclavian artery [2,16,18]. In the dog, the anomalous origins of the common carotid and right subclavian arteries are known to be derived from the aortic arch. However, simultaneous formations of the anomalous arteries and costeocervical vein have rarely been reported. In the present study, anomalous origins of the common carotid and the right subclavian arteries, and abnormal termination of the left costocervical vein, are described. Materials and Methods A 7-years old female German shepherd dog in good health was presented for euthanasia. Following anesthesia with ketamine hydrochloride (Yuhan Co., Seoul, Korea), the dog was exsanguinated and perfused with embalming fluid (ethanol : phenol : glycerin : formalin : water = 50 : 5 : 10 : 5 : 30) via the left common carotid artery. The following day latex was injected into arterial system for the distinct observation. During routine dissection of the thorax, anomalous vessels branching off the aortic arch were encountered with deformity of costocervical vein. On further detailed dissection, the relevant structures were photographed, and the heart, lung and adjacent structures were thoroughly observed. Results Two anomalous arteries were observed to arise directly from the aortic arch. The first branch to leave the aortic *Corresponding author Phone: +82-2-880-1271, +82-2-880-1275; Fax: +82-2-882-5343 E-mail: inselee@snu.ac.kr, leehss@snu.ac.kr 206 Young Sam Nam et al. arch was the ... Endovascular Therapy Evolution of treatment options for vein of Galen malformations ( A review )  1983-2000: 265 pts Evolution of treatment options for vein of Galen malformations ( A review ) ... >12: medical treatment  >5 mo Outcome and complications of endovascular embolization for vein of Galen malformations - 34 studies - Neonates: 44% - Infants: 41% - Children & Adult: 12% - Complete... 350 pts Timing of treatment Timing of treatment EVALUATION  12: medical treatment  >5 mo Outcome and complications of endovascular