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1

Clinical, genetic and environmental factors associated with congenital vertebral malformations.  

Science.gov (United States)

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

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

2013-02-01

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

Science.gov (United States)

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

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

2007-01-01

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

Directory of Open Access Journals (Sweden)

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

Jacobsen F Stig

2007-09-01

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

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Abstract Background Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporadic occurrence, linkage approaches to identify genes asso...

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

2007-01-01

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

Science.gov (United States)

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. PMID:24833506

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

2014-01-01

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Congenital spinal malformations  

International Nuclear Information System (INIS)

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.)

7

Congenital portosystemic vascular malformations.  

Science.gov (United States)

Congenital portosystemic shunts are developmental abnormalities of the portal venous system resulting in the diversion of portal blood away from the liver to the systemic venous system. Such malformations are believed to come from an insult occurring between the fourth and eighth week of gestation during the development of hepatic and systemic venous systems, and could explain their frequent association with cardiac and other vascular anomalies. They are currently categorized into end-to-side shunts (type I) or side-to-side shunts (type II). This article aims to review the common symptoms and complications encountered in congenital portosystemic shunts, the surgical and endovascular treatment, and the role of liver transplantation in this disease. We will also focus on the current controversies and the areas where there is potential for future studies. PMID:22800976

Guérin, Florent; Blanc, Thomas; Gauthier, Frédéric; Abella, Stephanie Franchi; Branchereau, Sophie

2012-08-01

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Congenital Vascular Malformation  

Science.gov (United States)

... affect venous return or contribute to deep vein thrombosis (DVT). Most of the venous malformations involve only short venous segments and do not require treatment. Arterial CVMs CVMs of the arteries are the least ...

9

Ethnic differences in congenital malformations.  

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Perinatal deaths and major lethal and non-lethal congenital malformations occurring in this hospital from 1979-82 inclusive were related to the ethnic group of the 15 438 mothers. The highest crude perinatal mortality rates occurred in Indian and Pakistani populations (18.3 per 1000 and 24.1 per 1000 respectively). The highest incidence of congenital abnormality also occurred in these groups (13.3 per 1000 and 12.8 per 1000 respectively), but there was considerable variation in the distributi...

Terry, P. B.; Bissenden, J. G.; Condie, R. G.; Mathew, P. M.

1985-01-01

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Complicated pneumothorax and congenital lung cystic malformation.  

Science.gov (United States)

Congenital cystic adenomatoid malformation, also named congenital pulmonary airway malformation (CPAM), is a congenital lung abnormality which is uncommon in adults. The usual radiological appearance of CPAM is a cystic space-occupying lesion. We present one case of CPAM with unusual clinical and radiological findings, a complicated spontaneous pneumothorax with intracystic haemorrhage with successful conservative initial treatment, despite acute haemodynamic instability. PMID:24694267

Attou, Rachid; Reper, Pascal

2014-04-01

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Mitochondrial Factors and VACTERL Association-Related Congenital Malformations  

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VACTERL/VATER association is a group of congenital malformations characterized by at least 3 of the following findings: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. To date, no unifying etiology for VACTERL/VATER association has been established, and there is strong evidence for causal heterogeneity. VACTERL/VATER association has many overlapping characteristics with other congenital disorders that involve multiple malf...

Siebel, S.; Solomon, B. D.

2013-01-01

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Morphological variation of "complex vertebral malformation" in Holstein calves.  

Science.gov (United States)

A study was performed to investigate the morphological expression of the inherited syndrome "complex vertebral malformation" (CVM) in Holstein calves. A total of 107 late-term aborted, premature, or neonatal calves suspected of having CVM were necropsied and retrospectively analyzed for the causal mutation in the gene SLC35A3. Sixty-two calves were homozygous affected, 16 were heterozygous, and 29 were homozygous normal. Calves affected by CVM were growth retarded. Vertebral lesions identified by radiography were present in 61 cases, of which 58 also had costal malformation. Malformation of the head, primarily in the form of dysplasia or palatoschisis, was present in 15 cases. Bilateral symmetric flexion of the carpal and metacarpophalangeal joints was present in all cases, whereas posterior arthrogryposis was found in 54 cases. Interventricular septal defects occurred in 33 calves, often in combination with other cardiac malformations. A wide spectrum of additional malformations was found. Other congenital syndromes were in most cases distinguishable from CVM on a morphological basis. However, a calf with a prenatal infection with bovine virus diarrhea virus constituted a phenocopy. The study demonstrated that the morphological expression of CVM is wide, but certain aspects, i.e., growth retardation, vertebral malformation, and symmetric arthrogryposis, are almost constant findings. However, cases without vertebral defects and phenocopies constitute a diagnostic problem. A presumptive diagnosis of CVM can in most cases be based on necropsy findings combined with information on descent and paternal CVM genotype, whereas a definitive diagnosis requires genotyping. PMID:15586570

Agerholm, Jorgen S; Bendixen, Christian; Arnbjerg, Jens; Andersen, Ole

2004-11-01

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Congenital malformations in multiple births  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: The present study was done to know and compare the incidence of congenital malformations in singleton and multiple births in our hospital & compare with other studies. Methods: A retrospective study done by collecting the data from parturition register from Jan 2008 to Dec 2011 (4yrs from Cheluvamba Hospital attached to Mysore Medical College and Research Institute. Total number of the live births, still births, and abortions> 20 wks were collected. Details of multiple births such as maternal age, gestational age, sex & birth weight of the babies, U/S reports and congenital anomalies (CA were noted. Results: The total number of singleton births were 48700 and number of babies who had congenital malformations were 235 (48.25/10,000 births.Total number of multiple births were 579 including 10 triplets and number of babies who had CA were 11 (189.98/10,000 births, P<0.0001. In the present study sex of the babies were noted in all multiple births and zygosity could not be recorded. Among 579 multiple births 404 were of the Same Sex (SS and 165 were of Opposite Sex (OS in twins and 6 were of the same sex and 4 were of opposite sex in triplets. According to Weinberg formula 50% of same sex (SS twins are monozygotic and 50% are dizygotic twins. Among the 11 babies with CA, 4 monozygotic twins had anomalies related to twinning such as Acardia with TRAP sequence (3 twins, and Thoracophagus (1 twin.5 babies had CNS anomalies, 1 with cystic hygroma, 1 baby with multiple system affected. Conclusion: The incidence of birth defects is more in multiple births and especially in monozygotic twins. In the present days increase in twinning rate due to advanced maternal age, hereditary factors and use of ovulation inducing drugs, which results in premature and low birth wt babies associated with poor lung maturity. [Int J Res Med Sci 2013; 1(3.000: 216-221

Sharada B. Menasinkai

2013-06-01

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Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation  

Energy Technology Data Exchange (ETDEWEB)

Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor. (orig.)

Breitling, Magnus; Rabin, Michael [University of Saskatchewan, Department of Medical Imaging, Saskatoon, Saskatchewan (Canada); Lemire, Edmond G. [University of Saskatchewan, Division of Medical Genetics, Department of Pediatrics, Saskatoon (Canada)

2006-08-15

15

Congenital hand anomaly: etiology and associated malformations.  

Science.gov (United States)

Congenital malformations of the hand may be present as part of syndromes. The recognition of these syndromes directly influences the surgical care of the hand anomaly. The natural history of the disorder may be predicted. The associated malformations may affect surgical timings and the indications for surgical correction. Various schema are presented here for evaluating the common abnormalities of the hand--radial club hand, ulnar defects, syndactyly, and polydactyly. PMID:3007544

Goldberg, M J; Bartoshesky, L E

1985-08-01

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Congenital malformation of inner ear, single cavity  

International Nuclear Information System (INIS)

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.

17

Congenital malformations of the orbit.  

Science.gov (United States)

This article discusses the embryologic development of the eye and orbital structures. Among the defects presented are anophthalmia and microphthalmia, coloboma, persistent hyperplastic primary vitreous, Coats disease, vascular malformations, encephalocele and nasolacrimal mucocele. Clinical and imaging features of the diseases are presented, along with radiographic images. PMID:21807313

Gujar, Sachin K; Gandhi, Dheeraj

2011-08-01

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Congenital malformations in newborns of alcoholic mothers  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births, 6 with congenital defects related to alcohol (3.0/1,000 live births, and 67 with developmental disorders related to alcohol (34.1/1,000 live births. The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. Conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.

Maria dos Anjos Mesquita

2010-12-01

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Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.  

Science.gov (United States)

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

Siebel, S; Solomon, B D

2013-02-01

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FULL SCIENTIFIC REPORTS - Complex vertebral malformation in Holstein calves.  

DEFF Research Database (Denmark)

A recently observed lethal congenital defect of purebred Holstein calves is reported. Eighteen genetically related calves were necropsied. One calf had been aborted on gestation day 159, and the others were delivered between day 250 and day 285. Birth weights were reduced. The defect was characterized by shortening of the cervical and thoracic parts of the vertebral column due to multiple hemivertebrae, fused and misshaped vertebrae, and scoliosis. Symmetrical flexures of the carpal joints and the metacarpophalangeal joint in combination with a slight lateral rotation of the phalanges also were present. Similar low-grade arthrogryposis was present in the posterior limbs. Fifty percent of the calves had heart malformation. Other malformations occurred in a few calves. Complex vertebral malformation (CVM) is proposed as the designation for this defect. A genetic etiology is indicated because cases occurred following breeding between genetically related individuals. Two common ancestors were found; both were former elite sires of US Holstein origin. Because of the widespread international use of semen from sires occurring in the pedigrees of affected calves, CVM is expected to occur in several countries.

Agerholm, JØrgen S.; Bendixen, Christian

2001-01-01

 
 
 
 
21

Congenital cystic adenomatoid lung malformation of newborn  

International Nuclear Information System (INIS)

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

22

Congenital spinal malformations; Kongenitale spinale Malformationen  

Energy Technology Data Exchange (ETDEWEB)

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.)

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

2001-12-01

23

Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformation.  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital cystic adenomatoid malformation (CCAM of the lung is a rare pulmonarylesion. The prognosis is variable ranging from perinatal death to spontaneous in uteroregression, with no neonatal morbidity. We present a case of CCAM diagnosed at 23 weeks'gestation using results of prenatal sonograms. Both prenatal Two-Dimensional and Three-Dimensional sonograms revealed multiple cystic lesions at the right lower lung field.Regular serial antenatal sonograms revealed the fetus had persistent right lower lung multicystlesions but had no hydrops fetalis or associated congenital anomalies. The results of theantenatal 50 g glucose diabetic screen at 24 weeks' gestation were normal. A live male babywas vaginally delivered smoothly at 40 weeks' gestation. Body weight was 4170 g. Apgarscores were 7 at 1 minute and 8 at 5 minutes. The newborn had no signs of respiratory distressat birth. Postnatal chest computed tomography (CT also revealed multiple fluid-filledcysts in the right lower lobe compatible with congenital cystic adenomatoid malformation.Because of the potential risk of perinatal death, repeated lung infection and malignantchange of CCAM, the newborn received right lower lung lobectomy 1 week after delivery.Pathology confirmed the diagnosis of CCAM type II. The recovery was smooth postoperativelyand the baby still receives regular follow-up. We emphasize the importance of prenataldiagnosis of CCAM and early removal of the congenital cystic lesions of the lung toachieve a good outcome.

Yaw-Ren Hsu

2004-01-01

24

Malformações pulmonares congênitas / Congenital lung malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese As malformações congênitas do pulmão são raras e variam muito na sua forma de apresentação clínica e gravidade, dependendo principalmente do grau de envolvimento pulmonar e de sua localização na cavidade torácica. Elas podem se manifestar em qualquer idade e podem ser fonte de importante morbidade e [...] mortalidade em lactentes e crianças. Os indivíduos com malformações congênitas do pulmão podem apresentar sintomas respiratórios ao nascimento, enquanto outros podem permanecer assintomáticos por longos períodos. Atualmente, com o uso rotineiro da ultrassonografia pré-natal, vem ocorrendo um aumento no diagnóstico mais precoce dessas malformações. A manifestação clínica dessas malformações varia desde uma disfunção respiratória pós-natal imediata a um achado acidental na radiografia de tórax. O diagnóstico precoce e o tratamento imediato oferecem a possibilidade de um desenvolvimento pulmonar absolutamente normal. Quando assintomáticos, a conduta para o tratamento dos pacientes com malformações pulmonares ainda é controversa, uma vez que o prognóstico dessas afecções é imprevisível. O manejo dessas lesões depende do tipo de malformação e de sintomas. Devido ao risco de complicação, a maioria dos autores sugere a ressecção da lesão no momento em que essa é identificada. A lobectomia é o procedimento de escolha, fornecendo excelentes resultados a longo prazo. Este artigo descreve as principais malformações pulmonares congênitas, seu diagnóstico e controvérsias quanto o tratamento. Abstract in english Congenital lung malformations are rare and vary widely in their clinical presentation and severity, depending mostly on the degree of lung involvement and their location in the thoracic cavity. They can manifest at any age and can be the source of significant morbidity and mortality in infants and c [...] hildren. Individuals with congenital lung malformations can present with respiratory symptoms at birth or can remain asymptomatic for long periods. Recently, there has been an increase in the early diagnosis of these malformations, a change that is attributable to the routine use of prenatal ultrasound. The clinical manifestation of these malformations varies from respiratory distress in the immediate postnatal period to an incidental finding on chest X-rays. Early diagnosis and prompt treatment offer the possibility of absolutely normal lung development. The treatment of asymptomatic patients with lung malformations is controversial, because the prognosis of these diseases is unpredictable. The management of these lesions depends on the type of malformation and symptoms. Because of the risk of complications, most authors recommend resection of the lesion at the time of diagnosis. Lobectomy is the procedure of choice and yields excellent long-term results. This article describes the principal congenital lung malformations, their diagnosis, and the controversies regarding treatment.

Cristiano Feijó, Andrade; Hylas Paiva da Costa, Ferreira; Gilberto Bueno, Fischer.

2011-04-01

25

Malformações pulmonares congênitas Congenital lung malformations  

Directory of Open Access Journals (Sweden)

Full Text Available As malformações congênitas do pulmão são raras e variam muito na sua forma de apresentação clínica e gravidade, dependendo principalmente do grau de envolvimento pulmonar e de sua localização na cavidade torácica. Elas podem se manifestar em qualquer idade e podem ser fonte de importante morbidade e mortalidade em lactentes e crianças. Os indivíduos com malformações congênitas do pulmão podem apresentar sintomas respiratórios ao nascimento, enquanto outros podem permanecer assintomáticos por longos períodos. Atualmente, com o uso rotineiro da ultrassonografia pré-natal, vem ocorrendo um aumento no diagnóstico mais precoce dessas malformações. A manifestação clínica dessas malformações varia desde uma disfunção respiratória pós-natal imediata a um achado acidental na radiografia de tórax. O diagnóstico precoce e o tratamento imediato oferecem a possibilidade de um desenvolvimento pulmonar absolutamente normal. Quando assintomáticos, a conduta para o tratamento dos pacientes com malformações pulmonares ainda é controversa, uma vez que o prognóstico dessas afecções é imprevisível. O manejo dessas lesões depende do tipo de malformação e de sintomas. Devido ao risco de complicação, a maioria dos autores sugere a ressecção da lesão no momento em que essa é identificada. A lobectomia é o procedimento de escolha, fornecendo excelentes resultados a longo prazo. Este artigo descreve as principais malformações pulmonares congênitas, seu diagnóstico e controvérsias quanto o tratamento.Congenital lung malformations are rare and vary widely in their clinical presentation and severity, depending mostly on the degree of lung involvement and their location in the thoracic cavity. They can manifest at any age and can be the source of significant morbidity and mortality in infants and children. Individuals with congenital lung malformations can present with respiratory symptoms at birth or can remain asymptomatic for long periods. Recently, there has been an increase in the early diagnosis of these malformations, a change that is attributable to the routine use of prenatal ultrasound. The clinical manifestation of these malformations varies from respiratory distress in the immediate postnatal period to an incidental finding on chest X-rays. Early diagnosis and prompt treatment offer the possibility of absolutely normal lung development. The treatment of asymptomatic patients with lung malformations is controversial, because the prognosis of these diseases is unpredictable. The management of these lesions depends on the type of malformation and symptoms. Because of the risk of complications, most authors recommend resection of the lesion at the time of diagnosis. Lobectomy is the procedure of choice and yields excellent long-term results. This article describes the principal congenital lung malformations, their diagnosis, and the controversies regarding treatment.

Cristiano Feijó Andrade

2011-04-01

26

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection  

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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 veterin...

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

2012-01-01

27

EGFR mutation of adenocarcinoma in congenital cystic adenomatoid malformation/congenital pulmonary airway malformation: a case report.  

Science.gov (United States)

An 80-year-old man underwent right upper lobectomy for the resection of multiple cysts accompanied by a nodule. The pathological diagnosis was adenocarcinoma with surrounding atypical epithelial cell proliferation in a Type 1 congenital cystic adenomatoid malformation/congenital pulmonary airway malformation. There was epidermal growth factor receptor mutation in the adenocarcinoma and surrounding atypical epithelial cells that had proliferated. Malignant transformation of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation may be related to the epidermal growth factor receptor pathway in this case, with atypical epithelial cell proliferation as a precursor. We emphasize the importance of complete resection of congenital cystic adenomatoid malformation/congenital pulmonary airway malformation and the possibility of treatment with epidermal growth factor receptor tyrosine kinase inhibitors in epidermal growth factor receptor-mutated cases. PMID:24482415

Hasegawa, Mizue; Sakai, Fumikazu; Arimura, Ken; Katsura, Hideki; Koh, Eitetsu; Sekine, Yasuo; Hiroshima, Kenzo

2014-03-01

28

Congenital pulmonary airway malformation (CPAM) [congenital cystic adenomatoid malformation] associated with tracheoesophageal fistula and agensesis of the corpus callosum.  

Science.gov (United States)

Congenital pulmonary airway malformations (CPAM) are a family of hamartomatous disorders due to the uncontrolled overgrowth of the terminal bronchioles. Congenital pulmonary airway malformations can co-exist with cardiovascular and/or urogenital malformations, but their association with thoracopulmonary malformations is extremely rare. We report the first case of CPAM type I, co-existing with tracheo-esophageal fistula and corpus callosum agenesis. PMID:22414029

Pizzi, Marco; Fassan, Matteo; Ludwig, Kathrin; Cassina, Matteo; Gervasi, Maria Teresa; Salmaso, Roberto

2012-06-01

29

METHODS TO DIAGNOSE CONGENITAL MALFORMATIONS IN NEWBORNS  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital malformations, congenital anomalies and innate defects (present at birth are synonymous terms used to describe structural, functional or metabolic disorders present at birth. The science that studies the causes of these disorders is called teratology (Greek teratos = monster. As genetic and malformative disorders are very diverse, appear at different ages and affect any system or organ, the patients who suffer of these diseases can be examined by a specialist doctor, all the medical practitioners facing genetic pathology should know some principles of genetic medicine. They also should know and apply the general methodology of genetic examination, should be able to indicate the necessary genetic explorations, as well as to correctly understand and interpret their results and should be able to advice genetically in a correct manner - within his/her area of competence – the patient and/or the family facing a genetic risk. Major structural anomalies appear in 2-3% in live newborns and other 2-3% are discovered in children up to 5 years old, summarizing 4-6%. Birth defects are the first causes of infantile mortality, accounting for approximately 25% of all neonatal deaths. Minor anomalies appear in approximately 15% out of the total of newborns. These anomalies do not alter the individual’s health status, but they are associated with major defects in some cases, therefore they can serve as key elements for the diagnosis of more serious, hidden defects.

Daniela Iacob

2009-01-01

30

Mortality from congenital malformations by mother's country of birth.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Mortality from congenital malformations by mother's country of birth was examined in England and Wales between the years 1976 and 1980, based on stillbirths and infant deaths. There were 18 870 stillbirths and infant deaths attributed to congenital malformations in this period, of which 2 375 (13%) were to mothers born outside the United Kingdom. There were excess deaths from malformations among Pakistani, Indian/Bangladeshi, African, and Irish mothers. In contrast, West Indian mothers had a ...

Balarajan, R.; Mcdowall, M.

1985-01-01

31

Socio- Cultural Variables Of Congenital Malformation In Newborns  

Directory of Open Access Journals (Sweden)

Full Text Available Research question: Is there an association between common socio â€" cultural variables and congenital malformation? Objectives: To determine the rate of congenital malformation at birth in hospital deliveries and its association with socio- cultural factors. Study design : Cross- sectional. Setting: J.N. Medical College Hospital and Mohanlal Gautam Rajkiya Hahila Chikitsalaya (District hospital, Aligarh. Participants: All newborn babies (including still births delivered in the two hospitals and their mothers. Study variables: Social class, religion, consanguinity of marriage, age of mother, parity, urban rural status, history of viral illness, drug intake and tobacco use during pregnancy. Outcome variables: Congenital malformations at birth. Statistical analysis: Chi- square test. Results: The overall prevalence of congenital malformations was 2.8%, being 1.6% in live births and 15.6% in stillbirths. Social class, consanguinity of marriage, parity, urban or rural status and history of viral illness during pregnancy were significantly associated with the date of congenital malformation. Conclusion: Certain socio- cultural factors are associated with congenital malformations and can be used in screening during ante- natal period.

Khan Zulfia

1997-01-01

32

[Radiological appearances of congenital malformations of the hand (author's transl)].  

Science.gov (United States)

Pre- and post-operative radiological appearances of various isolated congenital malformations of the hand are described, as observed in a personal series of 52 cases. Six groups of malformations can be distinguished, and are, in decreasing order of frequency: agenesias, syndactylies, duplications, amniotic bands, arthrogryposis, and macrodactyly. PMID:6249925

Geny, M; Chanson, L; Hoeffel, J C; Merle, M; Barthelet, P

1980-05-01

33

Monitoring congenital malformation among inhabitants of town  

International Nuclear Information System (INIS)

In Russia rendering of medical care of inhabitants of town located not far from works of nuclear industries be provided for system of special referral centers. Now the congenital malformation (CM) is one of the most issue of the day unresolved problem protection of genetic health of populations. CM account weighty part of structure incidence nursery every where. The most of CM lead to developmental disability, substantively restrict to life span and fertility. for the present moment the treatment CM developed for isolated instances therefore special prophylaxis to take on special significance. The one way to prophylaxis is simultaneous monitoring of CM and chief factors of disutility. In the framework of the State system of monitoring of CM our research laboratory of the State Research Centre Institute of Biophysics to Make a reality monitoring CM in the families of personnel of units of the atomic industry. From 2000 and during the present moment we are logged data about 21 a species of CM. In any case monstriparity with one of these CM in the families of workers of the atomic industry we investigated this case. Pro hac vice we are logged data about professional contacts parents this child with any factors of professional disutility including ionizing radiation. During 2002 we was obtained reliable information from 13 special referral centers about 33 case of birth of baby with CM. It's average about 1/1000 from all case of birth. From this case only 12 babies with Cirth. From this case only 12 babies with CM was birth in the families of personnel of the atomic industry. (Author)

34

[Congenital malformations of the lung, the radiologist's point of view].  

Science.gov (United States)

Congenital lung malformations include a complex range of developmental abnormalities. Currently, most are diagnosed prenatally or during early childhood. They may, however, be discovered later, incidentally or in connection with non-specific symptoms, sometimes severe. Knowledge of their radiological appearances is necessary for their detection. Proper technique and analysis of cross-sectional imaging, computed tomography and magnetic resonance imaging, allow a definitive diagnosis in most patients and pre-treatment evaluation of surgical cases. This review will describe the radiological aspects of congenital pulmonary malformations, especially those which may occur in late childhood or adult life. When present, alternative diagnoses will be discussed. A distinction will be made between anomalies originating from bronchopulmonary structures, such as bronchial atresia, bronchogenic cyst, congenital lobar overinflation, cystic adenomatoid malformation, and forms related to vascular anomalies (vascular rings, anomalous left pulmonary artery, pulmonary underdevelopment, proximal interruption of the pulmonary artery, pulmonary sequestration, scimitar syndrome). PMID:22742469

Berteloot, L; Bobbio, A; Millischer-Bellaïche, A-E; Lambot, K; Breton, S; Brunelle, F

2012-06-01

35

Ethnic differences in the distribution of congenital malformations.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Major lethal and non-lethal congenital malformations occurring in babies born in Dudley Road Hospital in 1979, 1980 and 1981 were related to the ethnic group of the mother. There was an increased incidence of gastrointestinal malformations in the Indian group and an increased incidence of abnormalities that could be associated with consanguinity and increased maternal age in the Pakistani group. A sample population (2000 mothers) was obtained in the first 7 months of 1982 to determine the mat...

Terry, P. B.; Mathew, P. M.; Condie, R. G.; Bissenden, J. G.

1983-01-01

36

Congenital cystic adenomatoid malformation with prenatal diagnosis:case report  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Congenital cystic adenomatoid malformation is a hamartomatous malformation accepted as an embryonic differentiation anomaly characterized by replacement of normal lung parenchyma by cysts of various sizes and numbers. The primigravid presented on her 24th week with the ultrasound findings of a fetus with unilateral cyts in left lung. Thoracoamniotic shunting was inserted at a mean gestational age of 24. Patient was born due to premature rupture of membranes and preterm delivery at a mean gest...

Salih Kalay; Osman Öztekin; Gönül Tezel; Erdem Ba?aran; Aygül Kernak; Mustafa Akçakus; Nihal Oygür

2012-01-01

37

Diffusion imaging and tractography of congenital brain malformations  

Energy Technology Data Exchange (ETDEWEB)

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.)

Wahl, Michael [University of California, San Francisco, Department of Neurology, San Francisco, CA (United States); University of California, San Francisco, Department of Radiology, 505 Parnassus Ave., L-358, Box 0628, San Francisco, CA (United States); Barkovich, A.J.; Mukherjee, Pratik [University of California, San Francisco, Department of Radiology, 505 Parnassus Ave., L-358, Box 0628, San Francisco, CA (United States)

2010-01-15

38

Congenital Malformations in Neonates after irradiation of Rats During Pregnancy  

International Nuclear Information System (INIS)

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 9th , 12th and 15th 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 12th and 15th 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

39

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

International Nuclear Information System (INIS)

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

40

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

Energy Technology Data Exchange (ETDEWEB)

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

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R. [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1990-12-15

 
 
 
 
41

[Coexistence of pulmonary sequestration and congenital cystic adenomatoid malformation. Case report and review of literature].  

Science.gov (United States)

This paper presents a case report of an infant, with a prenatally diagnosed congenital lung malformation, which proved to be pulmonary sequestration and congenital cystic adenomatoid malformation. The authors discuss current knowledge on diagnosis, clinical course and suggestions of ante- and postnatal management of patients with pulmonary sequestration or/and congenital cystic lung malformation. PMID:24964242

Sanocki, Marcin Tomasz; Dudek, Anna; Krenke, Katarzyna; Karolczak, Maciej; Motylewicz, Barbara; Kulus, Marek

2014-01-01

42

Congenital malformations: a review of 672 autopsies in Ibadan, Nigeria.  

Science.gov (United States)

The postmortem findings in 672 Nigerian children with lethal congenital malformations are reviewed. Eighty-six percent of the patients were less than 1 year of age and the male-to-female sex ratio was 1.3:1. The alimentary tract was the most common anatomic site involved (30%), intestinal and biliary atresia being the two lesions most frequently identified in this location. Twenty-six percent of the children had cardiovascular malformations, of which ventricular septal defect, patent ductus arteriosus, and tetralogy of Fallot were most important. There was an accentuated male predominance among cases with urogenital malformations due to the high frequency of posterior urethral valve. Hydrocephalus, spina bifida, and anencephaly were the most common lesions observed in the craniospinal axis. One-fifth of the children had complex malformations of multiple organ systems, 20% of which were associated with chromosomal anomalies, rubella, and other malformation syndromes. PMID:8247962

Akang, E E; Osinusi, K O; Pindiga, H U; Okpala, J U; Aghadiuno, P U

1993-01-01

43

Espectro óculo-aurículo-vertebral e malformações cardíacas / Oculo-auriculo-vertebral spectrum and cardiac malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: Verificar a frequência e tipos de cardiopatias congênitas em uma amostra de pacientes portadores de espectro óculo-aurículo-vertebral (EOAV), tentando correlacionar a presença desta malformação com suas demais características clínicas e evolução. MÉTODOS: A amostra foi composta por 33 indi [...] víduos, todos atendidos em um mesmo centro, no período de janeiro de 1975 a dezembro de 2007. Vinte e dois deles eram do sexo masculino e 11 do feminino e suas idades variaram de 1 dia a 17 anos. Todos apresentavam avaliação cariotípica normal por bandas GTG. Realizou-se uma coleta de dados referentes à sua história clínica, exame físico e resultado de avaliações complementares. RESULTADOS: Anormalidades cardíacas foram observadas em 13 pacientes (39,4%). Dessas, cinco (38,5%) eram do tipo conotruncal, sendo o principal defeito a tetralogia de Fallot (n=2). Malformações não usuais identificadas incluíram o cor triatriatum e a dupla via de entrada de ventrículo esquerdo. Diferenças significativas entre as características clínicas do grupo com e sem cardiopatia foram verificadas somente em relação à idade na primeira avaliação, que foi mais baixa naqueles com malformações cardíacas. Cinco indivíduos foram a óbito, quatro deles portadores desses defeitos. CONCLUSÃO: Malformações cardíacas, em especial dos tipos conotruncal e septal, são frequentes entre pacientes com EOAV. A frequência encontrada em nosso estudo foi estatisticamente similar à da maior parte dos trabalhos descritos na literatura, que oscila de 18% a 58%. As cardiopatias congênitas também representam a principal causa de óbito desses indivíduos. Portanto, uma avaliação cardiológica, especialmente precoce, deveria ser sempre realizada nesses pacientes. Abstract in english OBJECTIVE: To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS), in an effort to correlate presence of these defects with other clinical characteristics and evolution. METHODS: The sample comprised 33 subjects, all attend [...] ed in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female and their ages ranged from 1 day to 17 years. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. RESULTS: Cardiac abnormalities were observed in 13 patients (39.4%). Of these defects, 5 (38.5%) were conotruncal, tetralogy of Fallot being the main malformation (n=2). Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them, bearers of congenital heart defects. CONCLUSION: Cardiac malformations, mainly conotruncal and septal defects, are frequent among patients with OAVS. Frequency found in our study was statistically similar to the majority of works described in literature where it ranged from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.

Rafael Fabiano Machado, Rosa; Lisiane, Dall' Agnol; Paulo Ricardo Gazzola, Zen; Vera Lúcia Berenstein, Pereira; Carla, Graziadio; Giorgio Adriano, Paskulin.

44

Espectro óculo-aurículo-vertebral e malformações cardíacas Oculo-auriculo-vertebral spectrum and cardiac malformations  

Directory of Open Access Journals (Sweden)

Full Text Available OBJETIVO: Verificar a frequência e tipos de cardiopatias congênitas em uma amostra de pacientes portadores de espectro óculo-aurículo-vertebral (EOAV, tentando correlacionar a presença desta malformação com suas demais características clínicas e evolução. MÉTODOS: A amostra foi composta por 33 indivíduos, todos atendidos em um mesmo centro, no período de janeiro de 1975 a dezembro de 2007. Vinte e dois deles eram do sexo masculino e 11 do feminino e suas idades variaram de 1 dia a 17 anos. Todos apresentavam avaliação cariotípica normal por bandas GTG. Realizou-se uma coleta de dados referentes à sua história clínica, exame físico e resultado de avaliações complementares. RESULTADOS: Anormalidades cardíacas foram observadas em 13 pacientes (39,4%. Dessas, cinco (38,5% eram do tipo conotruncal, sendo o principal defeito a tetralogia de Fallot (n=2. Malformações não usuais identificadas incluíram o cor triatriatum e a dupla via de entrada de ventrículo esquerdo. Diferenças significativas entre as características clínicas do grupo com e sem cardiopatia foram verificadas somente em relação à idade na primeira avaliação, que foi mais baixa naqueles com malformações cardíacas. Cinco indivíduos foram a óbito, quatro deles portadores desses defeitos. CONCLUSÃO: Malformações cardíacas, em especial dos tipos conotruncal e septal, são frequentes entre pacientes com EOAV. A frequência encontrada em nosso estudo foi estatisticamente similar à da maior parte dos trabalhos descritos na literatura, que oscila de 18% a 58%. As cardiopatias congênitas também representam a principal causa de óbito desses indivíduos. Portanto, uma avaliação cardiológica, especialmente precoce, deveria ser sempre realizada nesses pacientes.OBJECTIVE: To verify the frequency and types of congenital heart defects in a sample of patients with oculo-auriculo-vertebral spectrum (OAVS, in an effort to correlate presence of these defects with other clinical characteristics and evolution. METHODS: The sample comprised 33 subjects, all attended in the same center, between January 1975 and December 2007. Twenty two of them were male and eleven female and their ages ranged from 1 day to 17 years. All presented normal karyotype by GTG-Banding. A data collection related to their clinical history, physical examination and result of complementary evaluations was performed. RESULTS: Cardiac abnormalities were observed in 13 patients (39.4%. Of these defects, 5 (38.5% were conotruncal, tetralogy of Fallot being the main malformation (n=2. Unusual anomalies identified included cor triatriatum and double inlet left ventricle. Significant differences among the clinical characteristics of the group with and without heart defect were only verified in relation to age at first evaluation that was lower in subjects with cardiac malformations. Five patients died, four of them, bearers of congenital heart defects. CONCLUSION: Cardiac malformations, mainly conotruncal and septal defects, are frequent among patients with OAVS. Frequency found in our study was statistically similar to the majority of works described in literature where it ranged from 18 to 58%. Congenital heart defects also represent the main cause of death of these subjects. Thus, a cardiac evaluation should always be performed in these patients, especially at an early age.

Rafael Fabiano Machado Rosa

2010-01-01

45

Congenital cystic adenomatoid malformation with prenatal diagnosis:case report  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital cystic adenomatoid malformation is a hamartomatous malformation accepted as an embryonic differentiation anomaly characterized by replacement of normal lung parenchyma by cysts of various sizes and numbers. The primigravid presented on her 24th week with the ultrasound findings of a fetus with unilateral cyts in left lung. Thoracoamniotic shunting was inserted at a mean gestational age of 24. Patient was born due to premature rupture of membranes and preterm delivery at a mean gestational age of 25. We present a case of congenital cystic adenomatoid malformation type I in a newborn who died in twelve hours after birth and discuss about pre- and postnatal diagnostic and therapeutic possibilities. (Turk Arch Ped 2012; 47: 294-7

Salih Kalay

2012-12-01

46

Congenital cystic adenomatoid malformation: Report of a case  

Energy Technology Data Exchange (ETDEWEB)

The congenital cystic adenomatoid malformation of the lung is an unusual pulmonary entity, and usually symptomatic in infancy with sign of respiratory distress. This abnormality consist of enlarged, multicystic lobe with smooth-walled cysts of variable sized, which can communicate with major bronchi through malformed air passage that usually lacks in cartilage. Roentgenographic findings are three types. First type is multicystic pattern showing various sizes of cysts and causing mediastinal shift with pulmonary herniation. Second type is dominant cystic pattern underlying multicystic lesion. Third type is solid homogenous mass. Prompt surgical resection is choice of treatment. We recently experienced a case of congenital cystic adenomatoid malformation of the lung of 27 day female infant and report with review of literatures.

Baek, Seung Yon; Yoo, Seon Young; Lee, Young Sik; Suh, Jeong Soo; Rhee, Chung Sik; Kim, Hee Seup [College of Medicine, Ewha Womans University, Seoul (Korea, Republic of)

1983-12-15

47

Congenital cystic adenomatoid malformation: Report of a case  

International Nuclear Information System (INIS)

The congenital cystic adenomatoid malformation of the lung is an unusual pulmonary entity, and usually symptomatic in infancy with sign of respiratory distress. This abnormality consist of enlarged, multicystic lobe with smooth-walled cysts of variable sized, which can communicate with major bronchi through malformed air passage that usually lacks in cartilage. Roentgenographic findings are three types. First type is multicystic pattern showing various sizes of cysts and causing mediastinal shift with pulmonary herniation. Second type is dominant cystic pattern underlying multicystic lesion. Third type is solid homogenous mass. Prompt surgical resection is choice of treatment. We recently experienced a case of congenital cystic adenomatoid malformation of the lung of 27 day female infant and report with review of literatures

48

Congenital renal arteriovenous malformations in infancy  

International Nuclear Information System (INIS)

Two infants with systemic hypertension were found to have congenital renal arteriovenous fistulas. The ultrasound, computed tomography, and angiographic features are presented. The hypertension subsided following nephrectomy in both patients. (orig.)

49

Prenatal diagnosis of congenital lung malformations  

Energy Technology Data Exchange (ETDEWEB)

Prenatal diagnosis of congenital lung anomalies has increased in recent years as imaging methods have benefitted from technical improvements. The purpose of this pictorial essay is to illustrate typical imaging findings of a wide spectrum of congenital lung anomalies on prenatal US and MRI. Moreover, we propose an algorithm based on imaging findings to facilitate the differential diagnosis, and suggest a follow-up algorithm during pregnancy and in the immediate postnatal period. (orig.)

Alamo, Leonor; Gudinchet, Francois; Meuli, Reto [Centre Hospitaliere Universitaire Vaudois (CHUV), Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Lausanne (Switzerland); Reinberg, Olivier [Centre Hospitaliere Universitaire Vaudois (CHUV), Department of Pediatric Surgery, Lausanne (Switzerland); Vial, Yvan; Francini, Katyuska [Centre Hospitaliere Universitaire Vaudois (CHUV), Department of Obstetrics and Gynecology, Lausanne (Switzerland); Osterheld, Maria-Chiara [Centre Hospitaliere Universitaire Vaudois (CHUV), Department of Pathology, Lausanne (Switzerland)

2012-03-15

50

POSSIBILITIES TO DIAGNOSE LIFE THREATENING CONGENITAL MALFORMATIONS  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Genetic and malformative diseases are very diverse, appear at different ages and affect any system or organ. Major structural anomalies appear in 2-3% of live-born children and 2-3% are discovered in children up to 5 years old, summarizing 4-6%. Defects at birth are the main cause of infantile mortality, representing approximately 25% out of the total neonatal deaths. The main possibilities of paraclinical investigation to detect cardiovascular, digestive, renal-urinary and central nervous sy...

Daniela Iacob; Re, Iacob

2010-01-01

51

Management of antenatally diagnosed pulmonary sequestration associated with congenital cystic adenomatoid malformation  

Digital Repository Infrastructure Vision for European Research (DRIVER)

BACKGROUND—Sequestration with associated cystic adenomatoid malformation is rare. A study was undertaken to determine whether pulmonary sequestration associated with congenital cystic adenomatoid malformation has a more favourable natural history than that of sequestration without associated cystic adenomatoid malformation.?METHODS—An outline of the postnatal work up leading to the management of extralobar or intralobar pulmonary sequestration with congenital cystic...

Samuel, M.; Burge, D.

1999-01-01

52

Bronchopulmonary malformations and congenital diaphragmatic hernia  

Directory of Open Access Journals (Sweden)

Full Text Available Airways with lung parenchyma and foregut develop from primitive foregut. Bronchopulmonary foregut molformations are the name of congenital, structural, often sporadic and non-hereditary anomalies including vessel anomalies formes during individual development of these two system following their separation from each other. The wideley observed forms are summarise in the context of this article. Congenital diaphragmatic hernia (CDH is a disease that is coused by the incomplete maturation of the diaphragm and a defect mostly on the left side, at the postero-lateral portion of the diaphragm. Diaphragm completes its growth around 4th-8th gestational age. If not then the abdominal viscera moves into the thoracic cavity and lung development is insufficient due to compression of the abdominal organs.This also causes maturation problem at the pulmonary arteries and ends up with severe pulmonary hipertansion that might be highly fatal in the newborns. (Turk Arch Ped 2010; 45 Suppl: 68-71

Nüvit Sar?murat

2010-05-01

53

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

Directory of Open Access Journals (Sweden)

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

Boes Aaron D

2011-12-01

54

Accuracy of prenatal diagnosis of congenital cystic adenomatoid malformation  

Digital Repository Infrastructure Vision for European Research (DRIVER)

A series of 13 consecutive patients with a prenatal diagnosis of congenital cystic adenomatoid malformation (CCAM) were reviewed with respect to prenatal ultrasound findings, clinical features at birth, and postnatal outcome. In two cases (15%) the abnormality regressed in utero. Only three infants (23%) showed any respiratory distress at birth. After a mean of 25 months postnatal follow up, 11 patients (85%) were found to have a definite pulmonary abnormality. In seven patients (54%) the spe...

Mccullagh, M.; Macconnachie, I.; Garvie, D.; Dykes, E.

1994-01-01

55

[Monitoring of congenital malformations in children in the Kursk region].  

Science.gov (United States)

The research established the frequency, spectrum and the prevalence of congenital malformations (CM) in the Kursk region, the analysis of the results of monitoring the CM for the period from 2005 to 2009 has been performed. The evaluation of influence of the major pollutants of air and soil on the possibility of CM arising in children in the Kursk region has been presented. PMID:23243722

Chernykh, A M; Seliutina, M Iu; Goriainova, I L

2012-01-01

56

Antenatal management of pulmonary hyperplasia (congenital cystic adenomatoid malformation)  

Digital Repository Infrastructure Vision for European Research (DRIVER)

A 26-year-old lady was seen in antenatal clinic. Her anomaly scan at 20 weeks showed significant fetal abdominal ascites and an enlarged echo bright right lung with cardiac displacement. These findings were consistent with recognised type III congenital cystic adenomatoid malformation (CCAM). An induction of labour was undertaken at 32 weeks' gestation due to increasing maternal morbidity. Labour was complicated by abdominal dystocia and a fetal paracentesis was performed, draining 800 ml. A ...

Ankers, D.; Sajjad, N.; Green, P.; Mcpartland, J. L.

2010-01-01

57

THE PREVALENCE OF THE HEART CONGENITAL MALFORMATIONS TO THE PREMATURE NEW BORN  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital heart diseases occur in approximately 1% of live-born infants and represent an important problem in pediatry. The objectives of this study are to establish the incidence of heart congenital malformations when compared to the other congenital malformations and their frequency according to some factors: risk, social background, sex and prematurity.

Daniela Iacob

2006-06-01

58

Antidepressant exposure during early pregnancy and congenital malformations  

DEFF Research Database (Denmark)

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 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 during pregnancy. Possible clinical measures may include fetal echocardiographic evaluation of exposed pregnancies.

Pedersen, Lars Henning

59

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.  

Science.gov (United States)

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 farms that had submitted lambs for post-mortem examination. This Schmallenberg virus was first reported in Germany and seems to be related to the Shamonda, Aino, and Akabane viruses, all of which belong to the Simbu serogroup of the genus Orthobunyavirus of the family Bunyaviridae. These preliminary findings suggest that the Schmallenberg virus is the most likely cause of this epizootic of ovine congenital malformations, which is the first such outbreak reported in Europe. PMID:22393844

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

60

Transgenerational transmission of radiation damage. Genomic instability and congenital malformation  

International Nuclear Information System (INIS)

The congenital malformation gastroschisis has a genetic disposition in the inbred mouse strain HLG/Zte. It is increased after preconceptional irradiation of males or females. Radiation exposures during the meiotic stages are most efficient. This malformation can also be induced by ionising radiation when the exposure takes place during the preimplantation period especially during the zygote stage. This latter effect can be transmitted to the next mouse generation. Other macroscopically visible or skeletal malformations are not significantly induced under these experimental conditions. These latter malformations are increased by radiation exposures during major organogenesis. The mechanisms for the development of the effects are different. Radiation exposure of the mouse zygote (1 to 3 hours p.c.) also leads to the induction of genomic instability in skin fibroblasts of the fetus. This phenomenon also occurs in a mouse strain (C57BL/6J) which is not susceptible to radiation-induced gastroschisis during the preimplantation period. The genomic instability is transmitted to the next mouse generation. During genomic instability chromatide breaks are dominating as in non-exposed cells. With respect to ''spontaneous'' malformations gastroschisis is dominating in HLG/Zte mice. Late radiation effects seem to have similar patterns as observed in non-exposed subjects, however, the rates are increased after irradiation. (author)

 
 
 
 
61

[Multiple bilateral pulmonary nodules revealing a congenital cystic adenomatoid malformation].  

Science.gov (United States)

Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare congenital developmental abnormality, representing about 25% of all congenital lung lesions. It is very rare that presentation is delayed until adulthood. We report a case of 63-year-old woman without notable pathological antecedents in whom a systematic chest X-ray revealed multiple bilateral pulmonary nodules. The patient was asymptomatic and her physical examination was normal. CT scan showed bilateral liquid rounded thin-walled densities of various size, with a homogeneous non calcified content. The diagnosis was based on radiological findings and surgery. The result of histopathological examination obtained by thoracic surgery confirmed CCAM without malignancy. The postoperative follow up showed an excellent recovery. PMID:22522042

Aichaouia, C; Farah, S; Dabboussi, S; Moatamri, Z; M'hamdi, S; Bougrine, F; Bouzaiene, A; Khadhraoui, M; Cheikh, R

2012-08-01

62

CONGENITAL MALFORMATIONS OF THE EXTERNAL AND MIDDLE EAR: COMPUTERIZED TOMOGRAPHIC CLASSIFICATION  

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Full Text Available The authors used the high-resolution computerized tomography (HRCT forexamining 52 congenital malformed ears in 45 children between 5 and 10 years ofage. In six children the congenital malformations were bilateral. From the clinicaspect, the malformations were manifested as microtia, atresia of the external auditorychannel and conductive hearing loss.In analyzing the anatomic details and pathological changes on the CT sectionsthe authors found three groups of malformations. In the first group the auditoryossicles were almost always malformed; in the second group, beside the defonnedauditory ossicles in almost all the cases there was apneumatized mastoid found whilein the third group the auditory ossicles were malformed, the mastoids were apneumatizedand in more than half of the cases the cavum timpani was malformed orfilled with messenchyma.These characteristics are of great importance in the surgical reconstruction ofthe congenital ear's malformations.

An?a Jasovic

2000-05-01

63

Cervical vertebral dislocation in a rugby player with congenital vertebral fusion.  

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Congenital cervical vertebral fusion is an anomaly which decreases the normal range of spinal movement and predisposes to trauma. The case history of a rugby player with a congenital fusion who sustained permanent quadriplegia after dislocation of the lower cervical spine is presented. The mechanism of injury is discussed. A plea is made for routine radiographic examination of the cervical spines of all rugby players in order to detect the presence of vertebral fusion and other conditions whi...

Scher, A. T.

1990-01-01

64

Malformaciones congénitas en hijos de madres con diabetes gestacional Congenital malformations among offspring of diabetic women  

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Full Text Available Background: The risk of congenital malformations is two to three times higher among women with diabetes mellitus before pregnancy. Gestacional diabetes is emerging as a risk factor for malformations. Aim: To study the rate and type of congenital malformations among offspring of women with pre-gestational or gestational diabetes. Material and methods: A search in the databases of the Collaborative Latin American Study for Congenital Malformations and of the Neonatology Unity of The University of Chile Clinical Hospital. All births from January 1998 through June 2004 were investigated. Results: In the study period, 13,965 births occurred, of which 0.7% were stillbirths and 8.1% had malformations. A total of 295 women (2.1% had diabetes (gestational diabetes in 1.8% and pre gestational diabetes in 0.3%. The prevalence of congenital malformations was 14% and 18.3% among offspring of mothers with pre-gestational and gestational diabetes, respectively (p=NS. The prevalence of congenital malformations among offspring of non diabetic women was 7.9% (p <0.001 with respect to diabetic women. Major malformations were found in 83% and 70% of malformed offspring of women with pre-gestational and gestational diabetes, respectively. Conclusions: Pregnant women with pre-existing or gestational diabetes have a higher risk of giving birth a child with malformations

Julio Nazer Herrera

2005-05-01

65

[Toe transplantation in congenital malformations of the hand].  

Science.gov (United States)

Toe transfer is a well established procedure for thumb and finger reconstruction after mutilation. The indications in congenital malformations are a mater of controversy. Out of a personal series of 209 patients, 42 were children presenting a congenital malformation. Thirty six, with 46 transfers were available for review. There is only one failure at the beginning of our experience. The main indication was absence of pinch either due to absence of thumb (like in congenital band syndrome or some extreme cases of ulnar club hand or cleft hand) or absence of long finger (like in symbrachydactyly monodactylous type) or lack of both thumb and finger (like in peromelic type of symbrachydactyly). In this last type, we have been disappointed by the functional result of the distal implantation of two second toes taken from both feet; we have proposed a "stub" operation consisting in a second toe transfer on the anterior aspect of the radial epiphysis to take advantage of the mobility of the wrist and the availability of plenty tendon transfer (in this proximal situation). When planing to "built" an absent pincer, an early age is mandatory for operation (mean 12 months), to ensure a good cortical integration. A less frequent indication is a partial toe transfer with a vascularized epiphysis to provide growth and mobility in some cases of thumb hypoplasia (like in symbrachydactyly or Blauth and Manske type III b). Results are difficult to assess due to the early operation but if the mobility has been disappointing (mean 32 degrees), sensibility (mean 2PD 5 mm) and growth were excellent. PMID:9554130

Foucher, G

1997-11-01

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Congenital Cystic Adenomatoid Malformation of the Entire Lung  

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Full Text Available Congenital cystic adenomatoid malformation (CCAM is a hamartomatous lesion of the lung. During the first 6-8 weeks of pregnancy, distal alveolar tissue enlarges due to the lack of maturation in proximal airways.Final diagnosis of the disease is generally made after the surgical resection of  the cyst and histopathological evaluation. Surgical techniques may vary fromsegmentectomies to pneumonectomies depending on the size of the cyst. The chances of obtaining positive prognosis are quite high in young adults, children, and in patients who are treated by pulmonary resection. A six-year old male patient was presented with a recurrent history of lung infection since he was born. As a result of physical and radiological examinations, it was determined that his left lung was deteriorated. Hence, left pneumonectomy was performed. Postoperative histopathology showed an overlap with CCAM.As CCAM is known to be a rare occurrence for an entire lung, information related  to the patient literature was discussed.

Mahmut Tokur

2013-03-01

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Progress in the treatment of congenital malformations of the hand.  

Science.gov (United States)

Treatment of congenital malformations of the hand and forearm has progressed not only from new procedures, but especially due to a new technique, namely microsurgery. Microsurgery enables skilled hand surgeons to operate on the tiny hands of babies without damaging the anatomical structures. The optimal time for the correction of many deformities is during the first 2 years of life. This gives excellent adaptation of the corrected structures to their altered function, especially in combination with a long period of further growth. Several new procedures are described which have been made possible only since the introduction of microsurgery, either by microvascular anastomoses or by meticulous dissection technique (toe transplantation, proximal toe phalanx transplantation, nail wall formation in complex syndactyly, transposition of digital parts in polydactyly and radial club hand). PMID:2256343

Buck-Gramcko, D

1990-01-01

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Congenital cystic adenomatoid malformation of lung: Report of two cases with review of literature.  

Science.gov (United States)

Congenital cystic adenomatoid malformations (CCAM) also known as congenital pulmonary airway malformation is a developmental, non-hereditary, hamartomatous abnormality of lung with unknown etiology. It is a rare disease with an incidence of 1 in 25,000 to 1 in 35,000. It is a disease of infancy with most of the cases diagnosed within first 2 years of life. We report autopsy findings of two fetuses with congenital cystic adenomatoid malformation (Stocker Type II and I) with brief review of literature. PMID:24049259

Chikkannaiah, Panduranga; Kangle, Ranjit; Hawal, Manjiri

2013-07-01

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Outcomes of Congenital Cystic Lung Malformations in Children and Their Management According to Clinical Progression  

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Full Text Available The aim of the investigation was to analyze the outcomes of congenital cystic lung malformations in children in accordance with clinical manifestations in pre- and postnatal period, and justify the management of patients. Materials and Methods. We analyzed retrospectively 45 cases of congenital cystic lung malformations treated over a period from 2005 to 2012 in two main children hospitals in Nizhny Novgorod. Results. Congenital cystic adenomatoid malformation (CCAM is the most common congenital cystic lesion of the lung (60%. Nearly half children with this pathology have no respiratory signs in neonatal period, and in 22.2% cases there are no manifestations in early childhood either. Three cases were found to have spontaneous regression of CCAM. Cystic adenomatoid malformation and solitary congenital cysts have the most favorable prognosis if prenatal lung lesions are early detected and there are no associated congenital malformations. Only 13% children (28.8% required surgical resection of cystic lung malformations. The survival rate of children with cystic lung malformations after surgery was 92.3%. Conclusion. Favorable outcomes of pregnancies with cystic lung diseases constituted the majority (86.7% of cases. Operative treatment is indicated if there are respiratory failure signs or recurrent respiratory infections.

N.?. Galyagina

2014-06-01

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Percutaneous coil embolisation of congenital hepatic arteriovenous malformations in two patients with congenital heart disease and review of the literature  

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Congenital hepatic arterio-venous malformations (AVM) are rare vascular anomalies and have rarely been reported in the presence of congeni-tal heart disease. The reported cases are mostly hemangiomas fed either by the hepatic artery itself or by one of its branches. We present two unique hepatic AVM cases in the presence of congenital heart defects in which the AVM was not fed by the hepatic arterial system. Transcatheter coil embolisation was successfully carried out in both of them by using...

Al-Ata Jameel; Arfi Muhammed Amin; Hussain Arif; Amjad, Kouatli A.

2010-01-01

71

Congenital Malformations Associated with the Administration of Oral Anticoagulants During Pregnancy  

Science.gov (United States)

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

Pettifor, J. M.; Benson, R.

1975-01-01

72

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

Energy Technology Data Exchange (ETDEWEB)

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

Aurora, P. [Great Ormond Street Hospital for Children NHS, London (United Kingdom). Directorate of Cardio-Respiratory Medicine; McHugh, K. [Great Ormond Street Hospital for Children NHS Trust, London (United Kingdom). Radiology Dept.

1998-09-01

73

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

International Nuclear Information System (INIS)

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

74

Factores de riesgo de ocurrencia y gravedad de malformaciones congénitas / Identification of risk factors for congenital malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: 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. Aim: To identify risk factors for congenital malformations. Patients and Methods: Retrospective case-contro [...] l study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Results: 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. Conclusions: Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

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

1431-14-01

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Chromosomal investigations in patients with mental retardation and/or congenital malformations  

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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 Tu...

Santos, C. B.; Boy, R. T.; Santos, J. M.; Silva, M. P. S.; Pimentel, M. M. G.

2000-01-01

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Management and outcome of antenatally diagnosed congenital cystic adenomatoid malformation of the lung  

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Objective: To review the management and outcome of babies with antenatally diagnosed congenital cystic adenomatoid malformation. Design: Retrospective cohort review. Setting: Tertiary neonatal care unit at Queen Mary Hospital and antenatal diagnostic centre at Tsan Yuk Hospital. Patients: Consecutive patients with antenatally suspected congenital cystic adenomatoid malformation in their concepti among antenatal patients attending Tsan Yuk Hospital from 1994 to 2002. Twenty-four of 33 cases we...

Tang, Mhy; Chow, Pc; Lee, Sl; Chan, Kl; Lee, Cp; Lam, Bcc; Tsoi, Ns

2007-01-01

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Incidence and Pattern of Congenital Malformations in Gorgan-north of Iran  

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Full Text Available Congenital malformations are emerged as a common cause of fetal death and one of the most important causes of prenatal mortality and morbidity. This study was done to determine the incidence and pattern of congenital malformations in a referral hospital in Gorgan, North of Iran. This cross-sectional study was done on 6204 live birth in Dezyani hospital in Gorgan, North of Iran during a 12-month period from January 1st to December 31st of 2007. Gender, type of congenital malformations according to International Classification of Diseases (ICD-10 and maternal ethnicity were recorded. Data for each newborn was filled in a questionnaire. Data analyzed by using SPSS software version 16 and ?2 test. The overall incidence of congenital malformations among newborns was 17.7 per 1000 live births. The incidence of congenital malformations was 22.4 per 1000 in males (RR = 1.68 CI95%: 1.14-2.48 and 13.06 per 1000 in females. Anomalies of the central nervous system had the highest incidence (7.3 per 1000 followed by congenital heart defects (5.2 per 1000 and musculoskeletal system (3.7 per 1000 births. According to ethnicity the incidence rate of congenital malformations was 16.5, 17.2 and 20 per 1000 live births in native Fars, Turkman (RR = 1.04 CI95%: 0.65-1.67 and Sistani (RR = 1.2 CI95%: 0.78-1.85 groups, respectively. This study showed that the incidence rate of congenital malformations is increased from 10.1-17.7 per 1000 live birth in Northern Iran during an 8 years period.

Arezo Mirfazeli

2013-01-01

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A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult.  

Science.gov (United States)

Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM), is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition who survive to adulthood usually suffer from recurrent respiratory bacterial infections. Only three cases of fungal involvement have ever been described. We present a fatal case, as well as the oldest patient. PMID:24672262

Enuh, Hilary A; Arsura, Edward L; Cohen, Zaza; Diaz, Keith T; Nfonoyim, Jay M; Cosentino, Phillip J; Saverimuttu, Jessie K

2014-01-01

79

Malformaciones congénitas y exposición a pesticidas / Congenital malformations and pesticide exposure  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: Chronic pesticide exposure is a recognized risk for human health. The frequency of congenital malformations in exposed people, can be used for epidemiological studies assessing reproductive risk secondary to toxic exposure. Aim: To study the association between the incidence of congenita [...] l malformations and parent’s exposure to pesticides. Material and methods: A prospective study of cases and controls. The exposure could be caused by occupational activities or residence around fumigated crops. The records of cases and controls from the surveillance carried out in the Hospital Regional de Rancagua were analyzed. This hospital is active member of a collaborative study of congenital malformations in Latin America. Results: In two years there was a total of 453 newborns (18 stillborn) with congenital malformations, with an incidence of 41.24 ‰. Considering only children born alive, the paired analysis of cases and controls showed an association of congenital malformations with a history of maternal exposure, with an attributable fraction of 54.4%. Conclusions: These results, showing an association between pesticide exposure and congenital malformations, should be analyzed in the future by a logistic regression test. (Rev Méd Chile 2000; 128: 399-404)

Alejandra, Rojas R; María Elena, Ojeda B; Ximena, Barraza O.

2000-04-01

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Giant congenital intercostal arteriovenous malformation with extensive involvement of chest wall and ribs: surgical experience.  

Science.gov (United States)

Intercostal arteriovenous malformations (AVMs) are rare lesions. Review of literature shows that most reported cases are secondary to trauma or iatrogenic in origin. Congenital intercostal AVMs are extremely rare. We believe that only 1 case report of congenital intercostal arteriovenous malformation has been reported previously in the literature. We present an exceedingly rare case of giant congenital intercostal AVM in a young patient diagnosed on contrast-enhanced computed tomography of the thorax and treated by surgical resection of the involved chest wall and ribs with reconstruction of the surgical defect. PMID:23706437

Parashi, Hrishikesh Sukhadeo; Bhosle, Krishnarao Narayan; Thakare, Nitin Dashrath; Sharma, Ajay; Potwar, Sushrut Suhas

2013-06-01

 
 
 
 
81

Malformation of lung in neonates (lobectomy for congenital lobar emphysema and lung cyst.  

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Full Text Available Congenital lobar emphysema (CLE and lung cyst--congenital cystic adenomatoid malformation (CCAM are rare conditions in the neonatal period. Lobectomy is the only treatment for these conditions. We had 4 neonates, seen over a period of two years, who had congenital lobar emphysema and one neonate who had lung cyst. All babies had undergone lobectomy. Their anaesthetic management is discussed here.

Karapurkar S

1993-10-01

82

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)

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 ?-catenin in the epithelial and interstitial cells. ?-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. PMID:24134655

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

2013-10-01

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Percutaneous coil embolisation of congenital hepatic arteriovenous malformations in two patients with congenital heart disease and review of the literature  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital hepatic arterio-venous malformations (AVM are rare vascular anomalies and have rarely been reported in the presence of congeni-tal heart disease. The reported cases are mostly hemangiomas fed either by the hepatic artery itself or by one of its branches. We present two unique hepatic AVM cases in the presence of congenital heart defects in which the AVM was not fed by the hepatic arterial system. Transcatheter coil embolisation was successfully carried out in both of them by using non-detachable Gianturco coils. Complete occlusion was achieved without any sequel.

Al-Ata Jameel

2010-08-01

84

Maternal distress and congenital malformations: do mothers of malformed fetuses have more problems?  

Science.gov (United States)

As compared with 580 randomly chosen pregnant women without malformed offspring. 161 women with malformed offspring at the index pregnancy had a more frequent history of previous multiple offspring deaths and somewhat increased maternal age but were not different on social class, marital or cohabitation status or parity. As compared with demographically similar reproducing women (n = 54) interviewed, malformation cases (n = 98) reported having had significantly more strong stress before identification of the malformation, as well as a clear tendency toward less appropriate timing of the pregnancy. Women with malformed offspring represent a psychosocially vulnerable group and should receive special clinical and personal support. PMID:10404467

Nimby, G T; Lundberg, L; Sveger, T; McNeil, T F

1999-01-01

85

Congenital malformation and fetal mortality trends in counties surrounding Oak Ridge  

International Nuclear Information System (INIS)

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

86

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

International Nuclear Information System (INIS)

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

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PRENATAL CONGENITAL CYSTIC ADENOMATOID MALFORMATION DETECTED COINCIDENTALLY BY OBSTETRIC ULTRASOUND EXAMINATION  

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Congenital cystic adenomatoid malformation (CCAM) is a hamartomatous malformation accepted as embryonic differentiation anomaly characterized with replacement of normal lung parenchyma by cysts in various size and number. Previously, CCAM could only be detected by diagnostic studies for respiratory symptoms during neonatal period. Today, the diagnosis of CCAM can be made during intrauterine period via prenatal follow-up ultrasonography . CASE Twenty-five –year old female patient with a 27 w...

Serdar Serinsöz; Nurten Turan Güner; Arda Kayhan; Suna Saatkaya; Güllüzar Y?lmaz; Tan Cimilli

2009-01-01

88

Congenital intrahepatic arterioportal and portosystemic venous fistulae with jejunal arteriovenous malformation depicted on multislice spiral CT  

International Nuclear Information System (INIS)

We report a symptomatic infant with very rare congenital arterioportal and portosystemic venous fistulae in the liver. Multislice CT after partial transcatheter embolisation revealed not only the complicated vascular architecture of the lesion, but also an incidental jejunal arteriovenous malformation which explained the patient's melena. The patient underwent ligation of the hepatic artery and resection of the jejunal arteriovenous malformation. Postoperative multislice CT clearly demonstrated the success of the treatment. (orig.)

89

Congenital intrahepatic arterioportal and portosystemic venous fistulae with jejunal arteriovenous malformation depicted on multislice spiral CT  

Energy Technology Data Exchange (ETDEWEB)

We report a symptomatic infant with very rare congenital arterioportal and portosystemic venous fistulae in the liver. Multislice CT after partial transcatheter embolisation revealed not only the complicated vascular architecture of the lesion, but also an incidental jejunal arteriovenous malformation which explained the patient's melena. The patient underwent ligation of the hepatic artery and resection of the jejunal arteriovenous malformation. Postoperative multislice CT clearly demonstrated the success of the treatment. (orig.)

Chae, Eun Jin; Goo, Hyun Woo; Yoon, Chong Hyun [Department of Radiology, Asan Medical Center, University of Ulsan College of Medicine, 388-1 Poongnap2-dong, Songpa-gu, 138-736, Seoul (Korea); Kim, Seong-Chul [Department of Pediatric Surgery, Asan Medical Center, University of Ulsan College of Medicine, 138-736, Seoul (Korea)

2004-05-01

90

Genetic consequences of the Chernobyl accident. Monitoring of congenital malformations in Kaluga region  

International Nuclear Information System (INIS)

The study concentrates on the genetic after-effects of the Chernobyl accident in some districts of Kaluga's region. The frequencies and range of congenital malformations, prematurely death-rate in the radionuclear polluted districts were compared with the control districts. Prematurely death-rate in compared regions is the same. The increase of the congenital malformation frequency is revealed in one the polluted districts (256/10000) as compared with the control one (27/10000). We assume that the observed effect is mainly connected with the professional activity of the population. 11 refs., 4 tabs

91

Malformación adenomatoidea quística congénita Congenital cystic adenomatous malformation  

Directory of Open Access Journals (Sweden)

Full Text Available Introducción: La malformación adenomatoidea quística (MAQ es una entidad congénita poco frecuente debida a una alteración en el desarrollo alveolar pulmonar. Pacientes y Método: Se realizó un estudio descriptivo y retrospectivo de los recién nacidos con el diagnóstico prenatal de MAQ durante 6 años en un hospital terciario de Madrid (España. Resultados: Se encontraron un total de siete pacientes. Todos fueron recién nacidos a término de peso adecuado. Dos pacientes presentaron distress respiratorio al nacimiento. Dos radiografías de tórax fueron normales. En la tomografía axial (TAC, tres lesiones fueron MAQ y cuatro fueron su-gerentes de lesión híbrida. Todos se derivaron a centro con cirugía pediátrica para seguimiento. Discusión: Al nacimiento, esta patología puede permanecer asintomática y ser un hallazgo casual en una radiografía torácica. A largo plazo el riesgo de infección y malignización complican el manejo. El tratamiento conservador, que se dirige a pacientes asintomáticos, obliga a realizar controles seriados de las lesiones. El tratamiento quirúrgico se reserva para los pacientes con sintomatología o complicaciones postnatales. Conclusiones: El diagnóstico de sospecha prenatal de MAQ es fundamental dado que la clínica y radiología pueden ser normales en el período neonatal. Se debe realizar TAC torácico para confirmar la lesión y valorar futura cirugía. Se necesitan más estudios sobre el correcto diagnóstico y manejo de esta patología.Introduction: Congenital Cystic Adenomatous Malformation (CCAM is an infrequent entity due to an alteration in alveolar-pulmonary development. Material and Methods: A descriptive, retrospective study of newborns presenting CCAM in a tertiary care hospital in Madrid, Spain. Results: Seven patients were found. All were full term, normal weight births. Two patients showed respiratory distress at birth. Two chest x-rays were normal. CT scans showed three clear CCAM lesions, four suggestive of hybrid lesions. All were referred to medical centers with pediatric surgery for followup. Discussion: At birth, this pathology may be asymptomatic and appear as a chest x-ray finding. Long term management is complicated by infection and malignization. Conservative treatment of asymptomatic patients includes regular follow up of lesions. Surgical treatment is reserved for symptomatic or complicated patients. Conclusions: Prenatal suspicion of CCAM is important since clinical exam and radiology may be normal in neonatal period. Chest CT scans are important in confirming diagnosis and determining future surgery. More studies are necessary for the proper diagnosis and management of this disorder.

PILAR ANTÓN-MARTÍN

2011-04-01

92

THE CONGENITAL MALFORMATIONS OF THE HEART FROM THE RURAL ENVIRONMENT OF BAC?U COUNTY  

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Full Text Available : During 1998 – 2003 it has been realized a study on a lot of 27,623 subjects represented by children from Bacu county. There were found 128 cases of congenital malformations of the heart, from which 82 cases are coming from the rural environment. The cases of congenital malformations of the heart are found more at boys (45 than at girls (37. The children found with congenital malformations of the heart are of different ages as following: 0-1 year – 55 cases, 1-3 years – 13 cases, 3-5 years – 3 cases, 5-7 years – 3 cases, 7-10 years – 3 cases and over 10 years – 6 cases. From the cases found in the rural environment, 18 deceases have been registered (14 boys and 4 girls who were under 1 year old. The most frequent congenital malformations of the heart found and confirmed are defects of auricular and ventricular septum, the transposition of the great blood vessels, the auricular and ventricular hypoplasia, coarctation of aorta, the congenital aortic insufficiency, the tetralogy of Fallot, hypoplasic aortic stenosis, the persistence of Botall orifice and the heart’s position right part of the body. A number of 16 children have benefited of surgical treatment of reparation in special clinics from Iai, Bucureti and Târgu Mure.

Aura Manuela David

2006-08-01

93

Bilateral congenital cystic adenomatoid malformation, stocker type III with associated findings and review of literature  

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Full Text Available Congenital cystic adenomatoid malformation (CCAM of the lung, Stocker?s type III is a rare anomaly characterized by replacement of normal pulmonary tissue with cysts of variable size and distribution. We report here a 16-week stillborn fetus with Stocker?s type III bilateral CCAM involving the entire lungs. The additional associated malformations included collapsed nasal bridge, low set ears, malformed ears, absence of neck folds, absence of nipples and areolas, tracheal stenosis, fetal hydrops and small heart. The pathogenesis, radiological findings, pathological findings and prognosis of CCAM are discussed along with review of literature.

Annam Vamseedhar

2010-04-01

94

Psychosocial job strain and risk of congenital malformations in offspring--a Danish National cohort study  

DEFF Research Database (Denmark)

OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logistic regression analysis was used to calculate the odds of congenital malformations as a function of job strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression analyses, both crude and adjusted, indicated no associations between working under high strain and giving birth to a child with circulatory malformation (adjusted odds ratio [OR] 1.04, 95% confidence interval [95% CI] 0.75-1.44), musculoskeletal malformation (aOR 0.88, 95% CI 0.71-1.10) or any malformation (aOR 0.99, 95% CI 0.85-1.15). Supplementary analyses including restriction to first-borns and a stratified analysis with respect to manual and nonmanual work did not change the results. CONCLUSIONS: Association between exposure to high job strain during pregnancy and elevated risk of circulatory, muscle and any malformations is not supported by this study.

Larsen, A D; Hannerz, H

2014-01-01

95

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

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Seventeen patients were diagnosed as having congenital cystic adenomatoid malformation of the lung during 1970-88. One case was associated with congenital diaphragmatic hernia and the child died before operation. The other 16 children underwent successful surgery. The patients presented in one of three ways--with neonatal respiratory impairment (12 cases) requiring urgent diagnosis and treatment, with recurrent respiratory tract infections (3), and with pneumothorax (1). Diagnostic problems a...

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

1990-01-01

96

[Intestinal malrotation: genetics features and other congenital malformations in children].  

Science.gov (United States)

The article is devoted to features of prenatal development of children with intestinal malrotation. Mass, height, head and chest circumferences of children after birth have been studied. In addition all associated malformations, a blood group (ABO system) and the rhesus-factor have been investigated. In comparison to the control group of newborn the disorders of prenatal development have included associated malformations, low anthropometric data after birth, decreasing of pA gene frequency. Notable, children with intestinal malrotation have had high frequency of malformations as in the abdominal and thoracic cavities as outside intestinal innervations: the small pelvis, the facial skeleton, the upper and lower extremity. PMID:22379897

Botvin'ev, O K; Eremeeva, A V; Razumovskaia, I N; Kondrikova, E V

2011-01-01

97

Cardiopatias congênitas e malformações extracardíacas / Congenital heart defects and extracardiac malformations / Cardiopatías congénitas y malformaciones extracardiacas  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: Revisar a associação entre cardiopatias congênitas e malformações extracardíacas. FONTES DE DADOS: A pesquisa incluiu artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se os descritores "congenital heart disease", "congenital heart defects", "congenital cardiac [...] malformations", "extracardiac defects" e "extracardiac malformations". Foram incluídos os artigos de séries de casos que exploravam especificamente a associação entre cardiopatias congênitas e malformações extracardíacas. SÍNTESE DOS DADOS: A cardiopatia congênita é responsável por cerca de 40% dos defeitos congênitos, sendo uma das malformações mais frequentes e a de maior morbimortalidade. Malformações extracardíacas são observadas em 7 a 50% dos pacientes com cardiopatia congênita, trazendo um risco ainda maior de comorbidade e mortalidade e tornando a cirurgia cardíaca mais arriscada. Diferentes estudos têm tentado avaliar a presença de anormalidades extracardíacas em pacientes portadores de cardiopatia congênita. Dentre as alterações descritas, destacam-se aquelas do trato urinário. Contudo, não houve um estudo que tenha avaliado do mesmo modo todos os pacientes. CONCLUSÕES: Anormalidades extracardíacas são frequentes em pacientes com cardiopatia congênita, sendo que os portadores de tais alterações podem apresentar um risco maior de morbimortalidade. Consequentemente, alguns autores vêm discutindo a importância e o custo-benefício da triagem destas crianças à procura de outras malformações por meio de exames complementares. Abstract in spanish OBJETIVO: Revisar la asociación entre cardiopatías congénitas y malformaciones extracardiacas. FUENTES DE DATOS: Se investigaron artículos científicos presentes en los portales Medline, Lilacs y SciELO, utilizándose los descriptores «congenital heart disease», «congenital heart defects», «congenital [...] cardiac malformations», «extracardiac defects» y «extracardiac malformations». Se incluyeron todos los artículos de casos que exploraban específicamente la asociación entre cardiopatías congénitas y malformaciones extracardiacas. SÍNTESIS DE LOS DATOS: La cardiopatía congénita es responsable por un 40% de los defectos congénitos, siendo una de las malformaciones más frecuentes y la de mayor morbimortalidad. Malformaciones extracardiacas se observan en 7 a 50% de los pacientes con cardiopatía congénita, trayendo un riesgo todavía más grande de comorbilidad y mortalidad y haciendo la cirugía cardíaca más arriesgada. Distintos estudios vienen intentando evaluar la presencia de anormalidades extracardiacas en pacientes portadores de cardiopatía congénita. Entre las alteraciones descriptas, se destacan aquellas del sistema urinario. Sin embargo, no hubo estudio que haya evaluado del mismo modo a todos los pacientes. CONCLUSIONES: Anormalidades extracardiacas son frecuentes en pacientes con cardiopatía congénita, siendo que los portadores de estas alteraciones pueden presentar un riesgo mayor de morbimortalidad. Por consiguiente, algunos autores vienen discutiendo la importancia y el costo-beneficio de la selección de estos niños en búsqueda de otras malformaciones por medio de exámenes complementares. Abstract in english OBJECTIVE: To review the association between congenital heart defects and extracardiac malformations. DATA SOURCES: Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malfor [...] mations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. DATA SYNTHESIS: 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 t

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

2013-06-01

98

Detection of congenital uterine malformation by using transvaginal three-dimensional ultrasound.  

Science.gov (United States)

This study assessed the clinical application of transvaginal three-dimensional ultrasound (3D TVUS) in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound (2D TVUS) and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was (98.38%, 61/62), higher than that of 2D TVUS (80.65%, 50/62). 3D TVUS coronal plane imaging could demonstrate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It allowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly. PMID:25318893

Yu, Li-Li; Zhang, Xuan; Zhang, Ting; Chen, Han-Rong; Wang, Ze-Hua

2014-10-01

99

Spontaneous regression of a congenital cystic adenomatoid malformation with conservative treatment: Case report  

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Cystic adenomatoid malformation (CCAM) as one of the most common pulmonary congenital anomalies may cause respiratory distress during neonatal period. Lesions that appear large in early gestation may regress. We present a neonate with respiratory distress diagnosed to have CCAM whose cystic lung lesions regressed spontaneously with conservative treatment.

Esra Çetinkaya; Turgut A?z?kuru; Serdar Cömert; Ayça Vitrinel; Nuriye Ayça Gül; Feza Aksoy; Yasemin Ak?n

2008-01-01

100

Spontaneous regression of a congenital cystic adenomatoid malformation with conservative treatment: Case report  

Directory of Open Access Journals (Sweden)

Full Text Available Cystic adenomatoid malformation (CCAM as one of the most common pulmonary congenital anomalies may cause respiratory distress during neonatal period. Lesions that appear large in early gestation may regress. We present a neonate with respiratory distress diagnosed to have CCAM whose cystic lung lesions regressed spontaneously with conservative treatment.

Esra Çetinkaya

2008-01-01

 
 
 
 
101

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

International Nuclear Information System (INIS)

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.)

102

Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome  

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Full Text Available Abstract Purpose Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. Methods MRI and cerebral angiography. Results In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described. Conclusion Patients with retinal arteriovenous malformations should be early examined with neuroradiological methods.

Schmidt D

2010-02-01

103

Two concomitant congenital lung malformations mimicking a paravertebral mass.  

Science.gov (United States)

We report the case of a 47-year-old woman who presented with the unique asymptomatic malformation of an extralobar pulmonary sequestration communicating with a bronchogenic cyst. Despite computed tomography and magnetic resonance imaging of the chest, the diagnosis could not be established before a left thoracotomy was performed. The sequestrated lobe and bronchogenic cyst were then successfully resected. PMID:25009245

Haciibrahimoglu, Gokhan; Aydogmus, Umit; Bedirhan, Mehmet Ali

2014-07-01

104

[The history of congenital malformations with special reference to conjoined twins. 1. From ancient times to the 18th century].  

Science.gov (United States)

Congenital malformations are mentioned in Assyrian and Babylonian literature, and the opinions of Democritus, Empedocles and Aristotle regarding their origin persisted in modified form until the Middle Ages. Following the invention of printing, illustrations of congenital malformations began to appear on pamphlets. Although not always realistic, these illustrations provide a rich source of information regarding the spirit of those times. The first monographs containing collections and interpretations of malformations appeared in the 16th century. These were followed in the 17th century by increasingly realistic illustrations, and superstitious ideas regarding the causes of malformations, although still predominating, gradually started to recede. PMID:3322106

Schumacher, G H; Gill, H; Gill, H

1987-01-01

105

Hernia diafragmática congénita y malformaciones asociadas. / Congenital diaphragmatic hernia and associated malformations.  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish La hernia diafragmática congénita (HDC) continua siendo me patología que pone en peligro la vida a pesar de los adelantos en su manejo. Las malformaciones congénitas asociadas resultan ser uno de los factores más importantes que contribuyen a elevar los tasas de mortalidad en estos pacientes. En est [...] e trabajo presentamos nuestra experiencia con relación a esta anomalía, la cual forma parte del Estudio Colaborativo Latinoamericano de Malformaciones Congénitos (ECLAMC), enfocado principalmente en lo asociación de la HDC con otras malformaciones Congénitas, y revise mas los aspectos relacionadcs con el patrón de herencia involucrado en los casos familiares de HDC. En este estudio encontramos que las malformaciones mayo res, especialmente las cardiacas, y un bajo peso al nacer confieren un mal pronostico a los recién nacidos con HDC. Abstract in english Congenital diaphragmatic hern a (CDH) continues to be a life-threatening condition despite the improvements in The management. Associated congenital malformations seem to be one of the most important factor’s that leads to en increase in mortality rares in these patents. We present "ere CLT experien [...] ce with this condition as part of the Latinoamerican Collaborative Study of Congenial Malformations (ECLAAAC) focused on the CDH association with other congenital malformations and c review of the issues related to the pattern of inheritance 'involved in the familiar cases of CDH. We found that ma or malformations, specially cardiac and a low birth weight confer poor prognosis to the newborns with CDH.

Enrique Daniel, Austin-Ward; Julio, Nazer H; Silvia, Castillo T.

1998-07-01

106

Hernia diafragmática congénita y malformaciones asociadas. Congenital diaphragmatic hernia and associated malformations.  

Directory of Open Access Journals (Sweden)

Full Text Available La hernia diafragmática congénita (HDC continua siendo me patología que pone en peligro la vida a pesar de los adelantos en su manejo. Las malformaciones congénitas asociadas resultan ser uno de los factores más importantes que contribuyen a elevar los tasas de mortalidad en estos pacientes. En este trabajo presentamos nuestra experiencia con relación a esta anomalía, la cual forma parte del Estudio Colaborativo Latinoamericano de Malformaciones Congénitos (ECLAMC, enfocado principalmente en lo asociación de la HDC con otras malformaciones Congénitas, y revise mas los aspectos relacionadcs con el patrón de herencia involucrado en los casos familiares de HDC. En este estudio encontramos que las malformaciones mayo res, especialmente las cardiacas, y un bajo peso al nacer confieren un mal pronostico a los recién nacidos con HDC.Congenital diaphragmatic hern a (CDH continues to be a life-threatening condition despite the improvements in The management. Associated congenital malformations seem to be one of the most important factor’s that leads to en increase in mortality rares in these patents. We present "ere CLT experience with this condition as part of the Latinoamerican Collaborative Study of Congenial Malformations (ECLAAAC focused on the CDH association with other congenital malformations and c review of the issues related to the pattern of inheritance 'involved in the familiar cases of CDH. We found that ma or malformations, specially cardiac and a low birth weight confer poor prognosis to the newborns with CDH.

Enrique Daniel Austin-Ward

1998-07-01

107

Preoperative diagnosis and surgical strategy in congenital auditory ossicular malformation of 26 ears  

International Nuclear Information System (INIS)

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 Subjects' informed consent should also be obtained due to the possible need for changing procedure based on findings during surgery. (author)

108

Malformaciones congénitas en los hijos de madres diabéticas / Congenital malformations in the offspring of diabetic mothers  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english The offspring of diabetic mothers have a 10 times higher frequency of congenital malformations and 5 times higher frequency of spontaneous abortions. Since the discovery of insulin, the prognosis of pregnancies has improved, both for the mother and the offspring. However, the prevalence of congenita [...] l malformations at birth has not decreased significantly. The embriological process that leads to anomalies in the offspring of diabetic mothers probably occurs between 6 and 8 weeks of gestation. According to animal experiments, hyperglycemia, ketones and free radicals may be involved in the genesis of malfomations, but different strains of rats respond differently to these potential teratogenic agents. Possibly, a higher genetic susceptibility towards congenital malformations also plays a role in diabetic women. Therefore, although the intimate mechanism producing malformations in the offspring of diabetic women is not known, several strategies to decrease the prevalence of malformations in these women, such as the use of antioxidants, are being tested

Julio, Nazer H; Rodrigo, Ramírez F.

1045-10-01

109

Detection of complex vertebral malformation carriers in Slovak Holstein cattle by high resolution melting analysis  

Digital Repository Infrastructure Vision for European Research (DRIVER)

The objective of this study was to apply high resolution melting analysis in the detection of complex vertebral malformation (CVM) carriers in Hosltein cattle. A total of 47 animals of Holstein cattle were included in this study. Genomic DNA was extracted from blood, hair follicles and sperm by commercial QIAamp® DNA Mini kit. The amplification and high resolution melting analysis (HRMA) was done by commercial SensiMixTM HRM kit. The confirmation of sensit...

Gábor M.; Miluchová Martina; Trakovická Anna; Riecká Zuzana; Candrák J.; Vavrišínová Klára

2012-01-01

110

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.  

Science.gov (United States)

The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations. PMID:21235632

Solomon, Benjamin D; Raam, Manu S; Pineda-Alvarez, Daniel E

2011-06-01

111

Bisphenol A induces otolith malformations during vertebrate embryogenesis  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background The plastic monomer and plasticizer bisphenol A (BPA, used for manufacturing polycarbonate plastic and epoxy resins, is produced at over 2.5 million metric tons per year. Concerns have been raised that BPA acts as an endocrine disruptor on both developmental and reproductive processes and a large body of evidence suggests that BPA interferes with estrogen and thyroid hormone signaling. Here, we investigated BPA effects during embryonic development using the zebrafish and Xenopus models. Results We report that BPA exposure leads to severe malformations of the otic vesicle. In zebrafish and in Xenopus embryos, exposure to BPA during the first developmental day resulted in dose-dependent defects in otolith formation. Defects included aggregation, multiplication and occasionally failure to form otoliths. As no effects on otolith development were seen with exposure to micromolar concentrations of thyroid hormone, 17-ß-estradiol or of the estrogen receptor antagonist ICI 182,780 we conclude that the effects of BPA are independent of estrogen receptors or thyroid-hormone receptors. Na+/K+ ATPases are crucial for otolith formation in zebrafish. Pharmacological inhibition of the major Na+/K+ ATPase with ouabain can rescue the BPA-induced otolith phenotype. Conclusions The data suggest that the spectrum of BPA action is wider than previously expected and argue for a systematic survey of the developmental effects of this endocrine disruptor.

Demeneix Barbara

2011-01-01

112

Ecografía de las malformaciones congénitas del sistema nervioso central Echography of congenital malformations of the central nervous system  

Directory of Open Access Journals (Sweden)

Full Text Available Se realizó un estudio descriptivo y prospectivo de 173 embarazadas atendidas en el Departamento Provincial de Genética Clínica de Santiago de Cuba, desde enero del 2000 hasta diciembre del 2004, para identificar las malformaciones congénitas del sistema nervioso central detectadas mediante la ecografía. La malformación más frecuente fue la hidrocefalia, seguida de los defectos de fusión de la columna vertebral, asociados con la hidrocefalia y la ausencia de cavidad craneana. Hubo predominio de la alfafetoproteína alterada y del líquido amniótico elevado.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.

Carlos Andrés Toirac Romani

113

Ecografía de las malformaciones congénitas del sistema nervioso central / Echography of congenital malformations of the central nervous system  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Se realizó un estudio descriptivo y prospectivo de 173 embarazadas atendidas en el Departamento Provincial de Genética Clínica de Santiago de Cuba, desde enero del 2000 hasta diciembre del 2004, para identificar las malformaciones congénitas del sistema nervioso central detectadas mediante la ecogra [...] fía. La malformación más frecuente fue la hidrocefalia, seguida de los defectos de fusión de la columna vertebral, asociados con la hidrocefalia y la ausencia de cavidad craneana. Hubo predominio de la alfafetoproteína alterada y del líquido amniótico elevado. Abstract in english 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 f [...] requent 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.

Carlos Andrés, Toirac Romani; Acelia, Salmon Cruzata; Mirelvis, Musle Acosta; Yamilé, Rosales Fargié; Vivian, Dosouto Infante.

2010-03-21

114

Surgical management of congenital deformities with temporomandibular joint malformation.  

Science.gov (United States)

This article discusses hemifacial microsomia and Treacher Collins syndrome relative to the nature of these congenital deformities as well as the clinical, radiographic, and diagnostic characteristics. These patients often have severe facial deformities with hypoplasia or aplasia of the temporomandibular joints (TMJs) and mandible. The surgical treatment options are presented, including the advantages and disadvantages of autogenous tissues versus patient-fitted total joint prostheses to reconstruct the TMJs and mandible as well as counterclockwise rotation of the maxillomandibular complex. PMID:25483449

Wolford, Larry M; Perez, Daniel E

2015-02-01

115

Possible link between congenital uterine malformations and epitheliod trophoblastic tumor  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Background: Epitheloid trophoblast tumor (ETT) is a tenuous type of gestational trophoblastic disease. Although clinically ETT behave in variable fashion, it is considered as a potentially malignant tumor, fatal malignancy occurs in 10% of the cases. Case and Conclusion: A 41 years old patient, who previously underwent Tompkins operation because of congenital uterine septum was admitted to our clinic due to irregular bleeding. Despite of serum hCG levels under the upper limit of normal, histo...

Balint Farkas; Krisztina Kovacs; Miklos Vizer; Jozsef Bodis; Peter Gocze

2012-01-01

116

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

LENUS (Irish Health Repository)

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

Collins, Anne M

2012-02-01

117

Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation; Fetale Magnetresonanztomographie. Diagnostik bei zystadenomatoider Malformation der Lunge (CCAM)  

Energy Technology Data Exchange (ETDEWEB)

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.) [German] Trotz verbesserter Therapien stellt die kongenitale zystadenomatoide Malformation der Lunge fuer den Feten weiterhin eine potenziell lebensbedrohliche Missbildung dar. Praenatal sind insbesondere ein Hydrops fetalis sowie der Spontanverlauf von prognostischer und therapeutischer Relevanz. Postnatal kommt der Lungenhypoplasie eine entscheidende Bedeutung zu. Aufgrund der hohen Verfuegbarkeit und Sensitivitaet bleibt die Primaerdiagnostik weiterhin dem Ultraschall vorbehalten. Die fetale MRT hingegen hat sich insbesondere bei unklarer sonographischer Befundlage als Methode der Wahl etabliert. Neben der Diagnosesicherung erleichtert sie durch eine uebersichtliche Darstellung der Befundausdehnung haeufig die Abschaetzung einer postnatalen Intensivtherapie. Mit zunehmender Erfahrung beim Einsatz fetalchirurgischer Verfahren kommt ihr ferner eine wachsende Bedeutung in der Indikationsstellung und Planung praenataler Therapien zu. Beides erfordert u. U. die zeitnahe Zuweisung in eine Spezialklinik. (orig.)

Buesing, K.A.; Kilian, A.K.; Neff, K.W. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Institut fuer Klinische Radiologie, Universitaetsklinikum Mannheim, Mannheim (Germany); Schaible, T. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Kinderklinik, Universitaetsklinikum Mannheim, Mannheim (Germany)

2006-02-15

118

Congenital bronchopulmonary vascular malformations: clinical application of a simple anatomical approach in 25 cases.  

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Congenital malformations of the bronchopulmonary airway and related arterial blood supply are a complex group of lesions in which abnormalities of venous drainage and lung parenchyma may coexist. Twenty five cases have been analysed, by a method whereby each anatomical component is separately considered. All 25 patients had abnormalities of the tracheobronchial tree, with no connection to the abnormal segment in nine cases. The aberrant arterial blood supply was single in 16 cases and multipl...

Clements, B. S.; Warner, J. O.; Shinebourne, E. A.

1987-01-01

119

Prevalence and pattern of congenital malformations among neonates in the neonatal unit of a teaching hospital  

International Nuclear Information System (INIS)

Objective: To determine the prevalence and pattern of congenital malformations among neonates in a teaching hospital. Methods: The prospective hospital-based study was conducted over a period of 18 months in the neonatal unit of Combined Military Hospital, Kharian, from September 2011 to February 2013. All neonates from newborn to 28 days of age admitted to the unit irrespective of their condition comprised the study population. Neonatal examination was done by the Registrar at the time of admission followed by neonatologist/paediatrician. Information regarding gender, weight, gestational age, mode of delivery, consanguinity, maternal age, antenatal visit record and family history were recorded on a predesigned proforma. After clinical examination, if required, relevant investigations like ultrasonography, radiology, echocardiography, laboratory and genetic studies were done to confirm diagnosis. Data was statistically analysed by using SPSS 20. Results: Out of 3,210 total admissions, 226 (7%) neonates were congenitally malformed. Of them, 130 (57.52 %) were male and 96 (42.47 %) females. Among different body systems affected, anomalies related to the central nervous system were 46(20.35%) musculoskeletal 42(18.58%), genitourinary 34 (15.04%), cardiovascular system 30 (13.27%), ear, eye, face, neck 27(11.94%), digestive system 19 (8.40%), syndromes and skin 14 (6.19%) each. Conclusion: Congenital Malformations are not rare in our community and central nervous system is the most commonly affected system. Healthcare managers must stress upon primary prevention in the form of vaccination, nutrition and drugs to decrease preventable share of congenital malformations. (author)

120

Mortality from congenital malformations in England and Wales: variations by mother's country of birth.  

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Stillbirth and infant mortality from congenital malformations in England and Wales during 1981-5 was investigated according to the mother's country of birth. Significant differences remained after standardising for maternal age and social class. The highest overall mortality was in infants of mothers born in Pakistan (standardised mortality ratio 237), followed by infants of mothers born in India (standardised mortality ratio 134), East Africa (standardised mortality ratio 126), and Banglades...

Balarajan, R.; Soni Raleigh, V.; Botting, B.

1989-01-01

 
 
 
 
121

Complex Genital Malformation in a Female with Congenital Adrenal Hyperplasia: Evaluation with Magnetic Resonance Imaging  

International Nuclear Information System (INIS)

This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence

122

Staged corrective surgery for complex congenital scoliosis and split cord malformation  

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Congenital scoliosis associated with split cord malformation raises the issue on how to best manage these patients to avoid neurologic injury while achieving satisfactory correction. We present the case of a 12-year-old girl who first presented when she was 11-year old with such combination but without much physical handicap or neurological deficit. The corrective surgery offered at that time was refused by the family. She again presented after 1 year with documented severe aggravation of th...

Qureshi, Muhammad Asad; Asad, Ambreen; Pasha, Ibrahim Farooq; Malik, Arslan Sharif; Arlet, Vincent

2009-01-01

123

ANTIBIOTICS POTENTIALLY USED IN RESPONSE TO BIOTERRORISM AND THE RISK OF MAJOR CONGENITAL MALFORMATIONS  

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This study was designed to assess the association between pregnancy-related exposures to antibiotics recommended for use in the event of a bioterrorism attack and major congenital malformations. A retrospective cohort study included 30,049 infants from Tennessee Medicaid born between 1985–2000 identified from computerized state databases. Infants with fetal exposures to ciprofloxacin, azithromycin, doxycycline, and amoxicillin (antibiotics recommended for potential bioterrorism attacks) and...

Cooper, William O.; Hernandez-diaz, Sonia; Arbogast, Patrick G.; Dudley, Judith A.; Dyer, Shannon M.; Gideon, Patricia S.; Hall, Kathleen S.; Kaltenbach, Lisa A.; Ray, Wayne A.

2009-01-01

124

Embolization of Uterine Arteriovenous Malformations Associated with Cyanotic Congenital Heart Disease  

International Nuclear Information System (INIS)

Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.

125

Exploratory Spatial Data Analysis of Congenital Malformations (CM) in Israel, 2000–2006  

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Congenital Malformations (CM) impose a heavy burden on families and society. Identification of spatial patterns of CM is useful for understanding the epidemiology of this public health issue. In Israel, about 1,000,000 births and 25,000 CM cases at 37 groups were geocoded during 2000–2006. These were geo-analyzed using global-Moran’s-I statistics. Eight groups demonstrated geospatial heterogeneity and were further analyzed at both the census tract (Local Indicator of Spatial Association (...

Ammatzia Peled; Michael Friger; Chava Peretz; Shai Linn; Keren Agay-Shay; Yona Amitai

2013-01-01

126

A Case of Congenital Cystic Adenomatoid Malformation Infected with Mycobacterium avium-intracellulare Complex  

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We present a case of congenital cystic adenomatoid malformation (CCAM) in a 25-year-old male who was presented with chronic cough. Chest radiography revealed an abnormal mass-like shadow in the right lower pulmonary zone. A contrast enhanced computed tomography showed an 11 cm solid, cystic mixed mass on the right lower lobe. A right lower lobectomy was performed by video-assisted thoracoscopic surgery without complications. The gross specimen showed a massive cavitation with multiloculated c...

Kim, Yong Jin; Kim, Do Young; Seo, Jung Woong; Lee, Song Am; Hwang, Jae Joon; Kim, Hee Joung; Lee, Kye Young

2013-01-01

127

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

Science.gov (United States)

Congenital cystic adenomatoid malformations (CCAM) are rare developmental anomalies of the lung characterized by cysts of varying sizes and/or adenomatoid proliferation. Type I CCAM, the most frequent subtype, is associated with an increased incidence of malignant transformation, principally bronchioloalveolar carcinoma, with a reported incidence of around 1%. We report the first case of mucoepidermoid carcinoma arising in a type 1 CCAM. PMID:23455800

Harini, Narayanappa; Chakravarthy, Ranjini; Archana, Lakshmanan

2012-01-01

128

Spontaneous and radiation induced congenital malformations including their roles in miscarriages and stillbirths  

International Nuclear Information System (INIS)

In the study described here an attempt was made to draw from a wide range of different sources data on the induction of congenital anomalies (malformations or defects existing at birth) by ionising and non-ionising rays during the various stages of gestation. This survey was chiefly based on findings in humans, results from animal experiments were solely included in cases where no suitable material was available for Man. (orig.)

129

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

International Nuclear Information System (INIS)

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.)

130

Spontaneous pneumothorax in a teenager with prior congenital pulmonary airway malformation  

Science.gov (United States)

Congenital pulmonary airway malformation (CPAM), previously referred to as congenital cystic adenomatoid malformation (CCAM), is a developmental malformation of the lower respiratory tract and the most commonly reported congenital lung lesion. Affected patients typically present with respiratory distress in the neonatal period from expanding cysts and resulting compression of surrounding lung parenchyma. However, some patients also remain asymptomatic until later in life. In this report, we present a case of CPAM requiring emergent left lower lobectomy at the first day of life that remained asymptomatic until the patient developed a spontaneous pneumothorax 18 years later. Our patient's presentation with an isolated spontaneous pneumothorax at age 18 does not appear to have been previously reported. In addition, there are several aspects of this case that represent atypical features of CPAM. After an extensive literature search, few reports exist describing any long-term complications of CPAM following neonatal lobectomy. Chest imaging in our patient demonstrated residual left basilar bullae and there was a moderate fixed obstructive/restrictive defect on pulmonary function testing. His risk for recurrent pneumothorax or infectious complications is unknown based on minimal published information on long-term outcomes or complications in patients with resected CPAM lesions. We conclude that follow up of all CPAM patients should include an evaluation for evidence of residual lung disease both with spirometric testing and chest imaging. Furthermore, concern for infectious complications or symptomatic obstructive lung disease should likewise be considered.

Shupe, Matthew P.; Kwon, Herbert P.; Morris, Michael J.

2014-01-01

131

A STUDY ON INCIDENCE OF VARIOUS SYSTEMIC CONGENITAL MALFORMATIONS AND THEIR ASSOCIATION WITH MATERNAL FACTORS  

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Full Text Available Objectives: To study the overall and individual incidence of clinically detectable congenital malformations in newborns delivered at a tertiary hospital and to find out the associated maternal factors. Methodology: The present study is a prospective study of all the newborns delivered at Obstetrics and Gynecology Department, SSG Hospital, Baroda for a period of one year in which total 4058 consecutively born babies were examined for all visible structural anomalies and associated maternal factors were studied. Results: Incidence of malformed babies was 1.53% (62 malformations out of 4058 babies of which the anomalies of CNS were the most frequent .In associated maternal factors, anaemia and diabetes were found to be relevant. Conclusion: The incidence of congenital anomalies of CNS was highest amongst all types of congenital anomalies (neural tube defects being the commonest. More stress should be laid on prevention by regular antenatal care and avoidance of known teratogens and probable teratogenic agents. [National J of Med Res 2012; 2(1.000: 19-21

Sumit Gupta

2012-02-01

132

Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy  

International Nuclear Information System (INIS)

Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

133

Malformaciones congénitas en Chile.: Un problema emergente (período 1995-1999) / Frequency of congenital malformations in Chilean hospitals in the period 1995-1999  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: The Latin American collaborative study of congenital malformations (ECLAMC) is a surveillance program designed to monitor the frequency of congenital malformations and detect abrupt changes in their frequency, look for the cause of such change and implement primary prevention measures. A [...] im: To construct a secular trend curve with the frequency of congenital malformations in Chile. Material and methods: Using the ECLAMC protocol, every malformed newborn or stillbirth, weighting more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. Using the gathered data, secular trend curves of congenital malformations were constructed. Results: Between 1982 and 1999, there is a secular tendency in the rate of congenital malformations and maternal age, with a correlation coefficient of 0.8 and slope of 13.5 (p

Julio, Nazer H; Teresa, Aravena C; Lucía, Cifuentes O.

2001-08-01

134

Malformações congênitas do pâncreas: um caso clínico / Congenital pancreas malformations: a clinical case report  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: Este trabalho tem por objetivo fazer uma revisão da malformação congênita denominada de agenesia dorsal do pâncreas (ADP) e de outras malformações congênitas pancreáticas, com base em um caso clínico raro e exemplar da problemática das malformações pancreáticas. Pretende-se rever a informa [...] ção mais recente publicada na literatura nacional e internacional acerca das malformações congênitas pancreáticas e investigar a diversidade de formas de apresentação clínica da ADP e de outras malformações congênitas do pâncreas. Pretende-se saber em que situações há indicação terapêutica, qual a altura mais adequada de intervir, quais as modalidades disponíveis para o tratamento médico e ou cirúrgico das malformações congênitas pancreáticas. RESULTADOS: A ADP é uma malformação muito rara que surge durante a organogênese. Nas últimas décadas, foi produzido um volume importante de informação genética e embriológica que ajuda a compreender as causas das malformações pancreáticas. As malformações pancreáticas têm de ser estudadas e compreendidas no seu conjunto. CONCLUSÃO: A malformação pancreática é uma causa de pancreatite aguda e crônica no adulto, pouco estudada. A possibilidade da existência de malformações pancreáticas deve estar sempre presente em doentes com pancreatite aguda ou crônica sem causa evidente. Abstract in english OBJECTIVE: This study aimed to review the congenital malformation known as agenesis of the dorsal pancreas (ADP) and other pancreatic birth defects, based on a rare and exemplary clinical case of pancreatic malformations. The intent was to review the latest information published in the national and [...] international literature on pancreatic birth defects, and to investigate the diversity of clinical presentations of ADP and other congenital pancreas abnormalities. The purpose was to identify which situations have therapeutic indication, the most appropriate time to institute treatment, and the currently available medical or surgical treatment of pancreatic congenital malformations. RESULTS: ADP is a very rare malformation that occurs during organogenesis. In the last decades, a large volume of embryological and genetic information has been obtained, helping to understand the causes of pancreatic malformations, which must be studied and understood as a whole. CONCLUSION: Pancreatic malformations are infrequently studied causes of acute and chronic pancreatiWtis in adults. The possibility of pancreatic malformations should always be considered in patients with acute or chronic pancreatitis with no evident cause.

Ana, Bento; Hamilton, Baptista; Fernando, Oliveira.

2013-02-01

135

Congenital cystic adenomatoid malformation of lung in adults: 2 rare cases report and review of the literature  

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Full Text Available Abstract Congenital cystic adenomatoid malformation (CCAM, also named congenital pulmonary airway malformation (CPAM, is a congenital abnormality of lung which is uncommon in adults. Here we present 2 adult cases of CCAM with unusual clinical and pathologic findings. One case was complicated with aspergillosis which was seldom reported. The other case was suffered bilateral lesions and the patient's mother had been previously radiographically discovered bilateral cystic lesions that CCAM could not be ruled out. A review of currently published related literatures has also been provided. Virtual slides The virtual slide(s for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/6406766736634578.

Feng Anning

2012-04-01

136

Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging  

International Nuclear Information System (INIS)

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.)lies. (orig.)

137

Fragile X syndrome in two siblings with major congenital malformations  

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We report on 2 brothers with both fragile X and VACTERL-H syndrome. The first sibling, age 5, had bilateral cleft lip and palate, ventricular septal defect, and a hypoplastic thumb. The second sibling, age 2{1/2}, had a trachesophageal fistula, esophageal atresia, and vertebral abnormality. High-resolution chromosome analysis showed a 46,XY chromosome constitution in both siblings. By PCR and Southern blot analysis, the siblings were found to have large triplet repeat expansions in the fragile X gene (FMR 1) and both had methylation mosaicism. Enzyme kinetic studies of iduronate sulfatase demonstrated a two-fold increase in activity in the first sib as compared to the second. Possible mechanisms through which the fragile X mutation can cause down-regulation of adjacent loci are discussed. 24 refs., 4 figs.

Giampietro, P.F.; Haas, B.R.; Lipper, E. [Cornell Univ. Medical Center, New York, NY (United States)] [and others

1996-05-17

138

Use of selective serotonin-reuptake inhibitors during early pregnancy and risk of congenital malformations: updated analysis  

Directory of Open Access Journals (Sweden)

Full Text Available Jette B Kornum1, Rikke B Nielsen1, Lars Pedersen1, Preben B Mortensen2, Mette Nørgaard11Department of Clinical Epidemiology, Aarhus University Hospital, Denmark; 2National Center for Registry-based Research, University of Aarhus, Aarhus, DenmarkBackground: Data on the safety of selective serotonin-reuptake inhibitors (SSRIs in pregnancy are inconsistent. We examined associations between SSRI use during early pregnancy and risk of congenital malformations in infants.Methods: Set in Northern Denmark, our population-based prevalence study included 216,042 women who had a live birth after the 20th week of gestation. We compared the prevalence of malformation in infants born to women who redeemed at least one SSRI prescription during early pregnancy with the prevalence in infants born to women who redeemed no SSRI prescriptions during their pregnancies. Drug use data were extracted from prescription databases, while data on congenital malformations were obtained from the National Registry of Patients.Results: The 2,062 women with SSRI prescriptions during early pregnancy gave birth to 105 (5.1% infants with malformations, while the 213,712 women with no SSRI prescriptions gave birth to 7,449 (3.5% infants with malformations. SSRI use was associated with an increased risk of malformations overall (odds ratio [OR] = 1.3; 95% confidence interval (CI: 1.1–1.6 and cardiac malformations (OR = 1.7; 95% CI: 1.1–2.5. For specific SSRIs, we found an increased risk for septal defects associated with sertraline.Conclusions: We found little overall association between use of SSRIs during pregnancy and congenital malformations, but our findings suggest an association between maternal SSRI use in early pregnancy and cardiac malformations which could be causal.Keywords: antidepressants, drug safety, pregnancy, congenital malformations, epidemiology

Jette B Kornum

2010-03-01

139

Are congenital vertebral anomalies and spina bifida cystica aetiologically related?  

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Radiological records of 104 patients with multiple vertebral anomalies without apparent spina bifida and 112 infants with spina bifida cystica were surveyed and the incidences of hemivertebrae and of rib, vertebral body, and vertebral arch fusions were recorded. The distributions of these four anomalies along the vertebral axis were found not to be statistically different between the two age groups. This is additional evidence to support the hypothesis that multiple vertebral anomalies and an...

Lendon, R. G.; Wynne-davies, R.; Lendon, M.

1981-01-01

140

Possible link between congenital uterine malformations and epitheliod trophoblastic tumor  

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Full Text Available Background: Epitheloid trophoblast tumor (ETT is a tenuous type of gestational trophoblastic disease. Although clinically ETT behave in variable fashion, it is considered as a potentially malignant tumor, fatal malignancy occurs in 10% of the cases. Case and Conclusion: A 41 years old patient, who previously underwent Tompkins operation because of congenital uterine septum was admitted to our clinic due to irregular bleeding. Despite of serum hCG levels under the upper limit of normal, histopathology analysis of D&C obtained endometrial samples confirmed the presence of ETT by immunostainings. Henceforth we performed prompt abdominal hysterectomy and preserved the normal structured ovaries. According to the müllerianosis theory of endometriosis aberrant differentiation or migration could cause spreading of cells throughout the fetal organogenesis of the uterus. These cells in an apoptosis week environment might correlate with the initiation of ETT. As a conclusion we suggest further studies to assess the link between ectopic cells and ETT, to gain a better understanding in the pathomechanism of the tumor.

Balint Farkas

2012-09-01

 
 
 
 
141

Congenital heart malformations induced by hemodynamic altering surgical interventions  

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Full Text Available Embryonic heart formation results from a dynamic interplay between genetic and environmental factors. Blood flow during early embryonic stages plays a critical role in heart development, as interactions between flow and cardiac tissues generate biomechanical forces that modulate cardiac growth and remodeling. Normal hemodynamic conditions are essential for proper cardiac development, while altered blood flow induced by surgical manipulations in animal models result in heart defects similar to those seen in humans with congenital heart disease. This review compares the altered hemodynamics, changes in tissue properties, and cardiac defects reported after common surgical interventions that alter hemodynamics in the early chick embryo, and shows that interventions produce a wide spectrum of cardiac defects. Vitelline vein ligation and left atrial ligation decrease blood pressure and flow; and outflow tract banding increases blood pressure and flow velocities. These three surgical interventions result in many of the same cardiac defects, which indicate that the altered hemodynamics interfere with common looping, septation and valve formation processes that occur after intervention and that shape the four-chambered heart. While many similar defects develop after the interventions, the varying degrees of hemodynamic load alteration among the three interventions also result in varying incidence and severity of cardiac defects, indicating that the hemodynamic modulation of cardiac developmental processes is strongly dependent on hemodynamic load.

SandraRugonyi

2014-08-01

142

A fatal case of congenital pulmonary airway malformation with aspergillosis in an adult  

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Full Text Available Hilary A Enuh,1 Edward L Arsura,2 Zaza Cohen,3 Keith T Diaz,2 Jay M Nfonoyim,2 Phillip J Cosentino,2 Jessie K Saverimuttu4 1Department of Internal Medicine, Richmond University Medical Center, Staten Island, NY, USA; 2Pulmonary and Critical Care Medicine, Richmond University Medical Center, Staten Island, NY, USA; 3Pulmonary and Critical Care Medicine, Rutgers, The State University of New Jersey, New Jersey Medical School, Newark, NJ, USA; 4Infectious Disease Control Unit, Richmond University Medical Center, Staten Island, NY, USA Abstract: Congenital cystic adenomatoid malformation, currently referred as congenital pulmonary airway malformation (CPAM, is one of the rare lung malformations seen in adults. We report a case of a 59-year-old male with a chronic cough and hemoptysis that was not amenable to bronchial embolization. Further work up revealed cystic changes with fungal ball and type 1 CPAM. Patients with this condition who survive to adulthood usually suffer from recurrent respiratory bacterial infections. Only three cases of fungal involvement have ever been described. We present a fatal case, as well as the oldest patient. Keywords: CPAM, aspergillosis, embolization

Enuh HA

2014-03-01

143

Espectro óculo-aurículo-vertebral e malformações cardíacas Oculo-auriculo-vertebral spectrum and cardiac malformations  

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OBJETIVO: Verificar a frequência e tipos de cardiopatias congênitas em uma amostra de pacientes portadores de espectro óculo-aurículo-vertebral (EOAV), tentando correlacionar a presença desta malformação com suas demais características clínicas e evolução. MÉTODOS: A amostra foi composta por 33 indivíduos, todos atendidos em um mesmo centro, no período de janeiro de 1975 a dezembro de 2007. Vinte e dois deles eram do sexo masculino e 11 do feminino e suas idades variaram de 1 di...

Rafael Fabiano Machado Rosa; Lisiane Dall'Agnol; Paulo Ricardo Gazzola Zen; Vera Lúcia Berenstein Pereira; Carla Graziadio; Giorgio Adriano Paskulin

2010-01-01

144

Congenital Cystic Pulmonary Malformations in Children: Our Experience with 19 Patients  

Science.gov (United States)

Purpose Congenital cystic pulmonary malformations (CPM) are rare anomalies. The purpose of this study was to present our experience with CPM patients who were surgically treated in our clinic and to discuss our findings along with those from the literature. Materials and Methods: Surgical treatment was performed on 19 patients under the age of 16 who were diagnosed with CPM in our clinic between January 1995 and December 2008. The diagnoses, ages, gender, symptoms, locations of the lesions, surgical method used, hospitalization times, complications, and the results of all patients were retrospectively evaluated. Results The distribution of diagnoses was as follows: bronchogenic cyst(s) (BC) - 5 patients; pulmonary sequestration (PS) - 6 patients; congenital lobar emphysema (CLE) - 4 patients; congenital cystic adenomatoid malformation (CCAM) Type I - 3 patients, and PS and CCAM coexistence - 1 patient. All patients underwent resection. No operative mortality occurred. The mean postoperative hospitalization time of the patients was 6.9 days (range 4–17 days). Conslusion CLE, CCAM, and PS may lead to life-threatening respiratory distress in infants. BC, CCAM, and PS, on the other hand, often progress with recurrent pneumonia in children and adults. Surgery is needed to improve severe symptoms, prevent fatal complications, and establish a histopathological diagnosis.

Turkyilmaz, Atila; Aydin, Yener; Erdem, Ali Fuat; Eroglu, Atilla; Karaoglanoglu, Nurettin

2009-01-01

145

Malformaciones congénitas en Chile.: Un problema emergente (período 1995-1999 Frequency of congenital malformations in Chilean hospitals in the period 1995-1999  

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Full Text Available Background: The Latin American collaborative study of congenital malformations (ECLAMC is a surveillance program designed to monitor the frequency of congenital malformations and detect abrupt changes in their frequency, look for the cause of such change and implement primary prevention measures. Aim: To construct a secular trend curve with the frequency of congenital malformations in Chile. Material and methods: Using the ECLAMC protocol, every malformed newborn or stillbirth, weighting more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. Using the gathered data, secular trend curves of congenital malformations were constructed. Results: Between 1982 and 1999, there is a secular tendency in the rate of congenital malformations and maternal age, with a correlation coefficient of 0.8 and slope of 13.5 (p<0.05. The rates of congenital malformations at the moment of birth are higher at the University of Chile Clinical Hospital than in the rest of Chilean hospitals and other Latin American Hospitals. Anencephalia is a defect with a high frequency in Concepción and spina bifida has a high frequency in Rancagua, Viña del Mar, Concepción and Valdivia. There is an impressive increase in malformations dependent on prenatal diagnosis such as kidney agenesis, polycystic kidney and diaphragmatic hernia. Conclusions: Congenital malformations are having an increasing importance as causes of morbidity or mortality in the newborn. (Rev Méd Chile 2001; 129: 895-904.

Julio Nazer H

2001-08-01

146

Use of corticosteroids in early pregnancy is not associated with risk of oral clefts and other congenital malformations in offspring  

DEFF Research Database (Denmark)

Corticosteroids are commonly used to treat inflammatory diseases. There is conflicting evidence regarding the association of corticosteroid use in pregnancy and congenital malformations in offspring. We conducted a prevalence study of 83,043 primiparous women who gave birth to a live-born singleton in northern Denmark, in 1999-2009. Through medical registries, we identified prescriptions for corticosteroids, congenital malformations, and covariates. Furthermore, we summarized the literature on this topic. Overall, 1449 women (1.7%) used inhaled or oral corticosteroids from 30 days before conception throughout the first trimester. Oral cleft in the offspring was recorded for 1 of the users (0.08%) and 145 of the nonusers (0.2%), prevalence odds ratio (OR) 0.47 [95% confidence interval (CI), 0.07-3.34]. The prevalence OR for congenital malformations overall was 1.02 (95% CI, 0.79-1.32). According to published studies, the use of corticosteroids in early pregnancy was associated with congenital malformations overall with relative estimates ranging from 0.8 (95% CI, 0.4-1.7) to 2.1 (95% CI, 0.5-9.6). For oral clefts, the ORs ranged from 0.6 (95% CI, 0.2-1.7) to 5.2 (95% CI, 1.5-17.1). We found no evidence of an association between use of corticosteroids in early pregnancy and risk of congenital malformations in offspring.

Bay BjØrn, Anne-Mette; Ehrenstein, Vera

2012-01-01

147

Posterior Vertebral Column Resection for VATER/VACTERL Associated Spinal Deformity: A Case Report  

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The VATER/VACTERL association is a syndrome notable for congenital vertebral malformations, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, and renal or limb malformations. Vertebral malformations may include the entire spectrum of congenital spinal deformities, including kyphosis, as was seen in this case. A 14-year-old girl presented to our institution with severe rigid sagittal deformity in the thoracolumbar spine that had recurred following three pri...

Cunningham, Matthew E.; Charles, Gina; Boachie-adje, Oheneba

2007-01-01

148

PRENATAL CONGENITAL CYSTIC ADENOMATOID MALFORMATION DETECTED COINCIDENTALLY BY OBSTETRIC ULTRASOUND EXAMINATION  

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Full Text Available Congenital cystic adenomatoid malformation (CCAM is a hamartomatous malformation accepted as embryonic differentiation anomaly characterized with replacement of normal lung parenchyma by cysts in various size and number. Previously, CCAM could only be detected by diagnostic studies for respiratory symptoms during neonatal period. Today, the diagnosis of CCAM can be made during intrauterine period via prenatal follow-up ultrasonography . CASE Twenty-five –year old female patient with a 27 week pregnancy was evaluated by obstetric Doppler ultrasonographic examination for routine follow-up. The US findings of coincidentally detected CCAM was reviewed in the light of literature. DISCUSSION The treatment and prognosis of CCAM depends on the type and the effect of the lesion . The detection of the lesion as early as possible is noteworthy for prevision and the appropriate treatment management. An attentive evaluation and accurate guidance in prenatal period is of great importance for detection of possible problems particularly in neonatal period.

Serdar Serinsöz

2009-01-01

149

Incidence of Congenital Malformations in Ruminants in the North Eastern Region of Nigeria  

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Full Text Available A Survey on the incidence of congenital malformations of the ruminants was conducted from Jan. 2001 – April 2002. The specimens collected were grossly examined and either dissected or radiographed. A total of 11 cases of malformations were recorded, out of which 5 (45.5% were of ovine species, 4 (36.4% cases from caprine and 2 cases (18.2% were from bovine species. Seven of the cases were found in fetuses while 2 cases each were observed in full term and postnatal respectively. The deformities observed were those of the limbs (36.36%, craniofacial defects (18.18%, postural defects (18.18% and abnormal twinning (27.27%. It was concluded that inadequate nutritional requirement may be responsible for the animals feeding on any available materials including toxic plants. A study on phytoteratogens is suggested so as to identify the existing ones within the study area.

Sonfada Mamman Legbo

2010-02-01

150

Partial hepatic vein diversion in pulmonary arteriovenous malformations in congenital heart disease.  

Science.gov (United States)

The late appearance of pulmonary arteriovenous malformations after operations for complex congenital cardiac conditions may be explained in many ways. The necessity of hepatic blood flow to the lungs is now generally accepted for carrying some labile substance that is secreted by the liver and that has not yet been identified. Rerouting of hepatic blood to the lungs in cardiac patients can be accomplished with different methods, most of which are predisposed to thrombosis because of the slow flow in the tunnel. My colleagues and I describe a case of partial diversion of hepatic blood into the pulmonary circulation and suggest a strategy to decrease the likelihood of conduit thrombosis and to treat pulmonary arteriovenous malformations. PMID:15337061

Aidala, Enrico; Chiappa, Enrico; Cascarano, Maria Teresa; Valori, Andrea; Abbruzzese, Pietro Angelo

2004-09-01

151

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

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

152

Chromosomal investigations in patients with mental retardation and/or congenital malformations  

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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.Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18% representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas.

C.B. Santos

2000-12-01

153

Chromosomal investigations in patients with mental retardation and/or congenital malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados [...] por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18%) representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas. Abstract in english 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.

C.B., Santos; R.T., Boy; J.M., Santos; M.P.S., Silva; M.M.G., Pimentel.

2000-12-01

154

Congenital bronchopulmonary malformations: A single-center experience and a review of literature  

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Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

Kumar Basant

2008-01-01

155

Prevalence at birth of congenital malformations in communities near the Hanford site  

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The authors examined the prevalence of congenital malformations among births in Benton and Franklin counties, in southeastern Washington State, from 1968 through 1980. The Hanford Site is in this area and serves as a major employer. In addition, various agriculturally and chemically related activities are in the area. Hospital and vital records were used to identify 454 malformation cases among 23,319 births; this yielded a malformation rate of 19.6 per 1000 births, a rate similar to those reported in other studies. The rates of specific malformations ascertained during the first year of life were compared with combined rates from the states of Washington, Oregon, and Idaho from the Birth Defects Monitoring Program. Among defects that would be expected to be comparably ascertained, a statistically significant elevated rate of neural tube defects was observed (1.72 per 1000 births vs. 0.99 per 1000). Rates of cleft lip were significantly lower in Benton and Franklin counties than in the Birth Defects Monitoring Program (0.59 per 1,000 vs. 1.17 per 1000). For congenital heart defects, pyloric stenosis, and Down syndrome, which are often not diagnosed in the newborn period, Birth Defects Monitoring Program data did not offer appropriate comparisons. The rates of these defects did not appear to be elevated in relation to rates found in other relevant populations. When rates of neural tube defects were compared with those in populations other than the Birth Defects Monitortions other than the Birth Defects Monitoring Program, the Benton and Franklin county rates were still considered to be elevated. The increased bicounty rate cannot be explained by employment of the parents at Hanford or by the impact of plant emissions on the local population

156

Fetal Deaths and Congenital Malformations in Progenies of Iranian Chemical Victims  

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Background: The goal of the present study was to report the results of two parallel works in which the incidence of fetal deaths and also congenital malformations among the progenies of the Iranian chemic...

Dd, Farhud; Hashemzadeh Chaleshtori, M.; Pour-jafari, H.

2011-01-01

157

Congenital cystic adenomatoid malformation with associated mucinous bronchioloalveolar carcinoma in a neonate.  

Science.gov (United States)

Congenital cystic adenomatoid malformation (CCAM) of lung is a rare hamartomatous disorder characterized by abnormal branching morphogenesis of the lung. We report an unusual case of a 2-day-old male newborn with a pulmonary cystic lesion and lobectomy revealed a CCAM of the lung that has overlapping features of type 1 and type 2, complicating with multifocal mucinous bronchioloalveolar carcinoma (BAC). The case indicates that malignant transformation can occur in very early stage of the infancy in the patients with CCAM of lung. PMID:24093545

Li, Juan; Chen, Guang-Sheng; Zhang, Xiaohui; Moore, Lynette; Cheng, Hong

2014-02-01

158

Electroencephalography in congenital malformations of the central nervous system Electroencefalografia en las malformaciones congénitas del sistema nervioso central  

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We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a ...

Patrícia Campos; Guillermo Cruz; Rodolfo Lizarraga; Ernesto Bancalari; Daniel Guillen; Carlos Castañeda

1994-01-01

159

Radiological evaluation with Doppler sonography and multidetector CT angiography in congenital hepatic arteriovenous malformation in a newborn  

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Although hepatic arteriovenous malformations are rarely reported, they frequently have life-threatening complications such as cardiac failure and are associated with a high mortality rate. Consequently, accurate prenatal and early postnatal diagnosis is important and therapeutic procedures depend on the imaging features. We report the early postnatal sonographic, Doppler sonographic, multidetector CT and CT angiography findings of a congenital hepatic arteriovenous malformation in a newborn. (orig.)

Adaletli, Ibrahim; Kurugoglu, Sebuh; Kilic, Fahrettin [Istanbul University, Department of Radiology, Cerrahpasa Medical Faculty (Turkey); Senyuz, Osman F. [Istanbul University, Department of Paediatric Surgery, Cerrahpasa Medical Faculty (Turkey); Dervisoglu, Sergulen [Istanbul University, Department of Pathology, Cerrahpasa Medical Faculty (Turkey)

2006-11-15

160

Cytochrome P450 oxidoreductase deficiency: rare congenital disorder leading to skeletal malformations and steroidogenic defects.  

Science.gov (United States)

Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a newly characterized disorder. PORD is caused by homozygous or compound heterozygous mutations in POR encoding an electron donor for several microsomal enzymes such as CYP21A2, CYP17A1, CYP19A1, CYP51A1, and CYP26A1-C1. Molecular defects of PORD include a Japanese founder mutation p.R457H, as well as various missense, nonsense, frameshift, and splice-site mutations and exonic deletions. PORD leads to unique skeletal malformations referred to as Antley-Bixler syndrome, in addition to 46,XX and 46,XY disorders of sex development, pubertal failure, adrenal dysfunction, and maternal virilization during pregnancy. Such clinical features are ascribable to impaired activities of the POR-dependent microsomal enzymes. PORD represents one form of congenital adrenal hyperplasia, although it can occur as a congenital malformation syndrome and a disorder of sex development. Phenotypic severity of PORD is highly variable and only partly depends on the residual activity of the mutant proteins. It is possible that PORD remains undiagnosed in several patients. Detailed hormonal assessment and molecular analysis are useful for diagnosis of PORD. PMID:25294558

Fukami, Maki; Ogata, Tsutomu

2014-12-01

 
 
 
 
161

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

International Nuclear Information System (INIS)

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 vita 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

162

Edad materna y malformaciones congénitas: Un registro de 35 años. 1970-2005 / The association between maternal age and congenital malformations  

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Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: There is an association between extreme maternal ages and the risk of congenital malformations. This is specially true for chromosomal abnormalities among women of advanced ages and disruptive malformation among teenage mothers. Aim: To determine the association between maternal ages and [...] incidence of congenital malformations at the obstetric ward of a clinical hospital. To compare these figures with those of Chile. Material and methods: The hospital registries of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) between 1996 and 2005, were consulted. This is a database of all marformations detected in newborns at the hospital. Results: An overall prevalence of malformations of8,4% was detected at the hospital. There is a significantly lower frequency of mothers aged less than 20 years than in the rest of Chile. Mothers aged between 20 and 29 years have the lower frequency of malformed children. Women aged ¡ess than 20 years and over 39 years of age, account for 56% of malformed children. Maternal ages and the rates of malformations, increased in a parallel fashion at a rate of 0.2 years and 2.2 malformed children per 1,000 born alive, per calendar year, respectively. Conclusions: The association between prevalence rates of congenital malformations and maternal age is U chaped with a higher proportion of malformed children among women aged ¡ess than 20 years or more than 39 years

Julio, Nazer H; Lucía, Cifuentes O; Alfredo, Águila R; Pilar, Ureta L; María Piedad, Bello P; Francisca, Correa C; Francisco, Melibosky R.

1463-14-01

163

Edad materna y malformaciones congénitas: Un registro de 35 años. 1970-2005 The association between maternal age and congenital malformations  

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Full Text Available Background: There is an association between extreme maternal ages and the risk of congenital malformations. This is specially true for chromosomal abnormalities among women of advanced ages and disruptive malformation among teenage mothers. Aim: To determine the association between maternal ages and incidence of congenital malformations at the obstetric ward of a clinical hospital. To compare these figures with those of Chile. Material and methods: The hospital registries of the Latin American Collaborative Study of Congenital Malformations (ECLAMC between 1996 and 2005, were consulted. This is a database of all marformations detected in newborns at the hospital. Results: An overall prevalence of malformations of8,4% was detected at the hospital. There is a significantly lower frequency of mothers aged less than 20 years than in the rest of Chile. Mothers aged between 20 and 29 years have the lower frequency of malformed children. Women aged ¡ess than 20 years and over 39 years of age, account for 56% of malformed children. Maternal ages and the rates of malformations, increased in a parallel fashion at a rate of 0.2 years and 2.2 malformed children per 1,000 born alive, per calendar year, respectively. Conclusions: The association between prevalence rates of congenital malformations and maternal age is U chaped with a higher proportion of malformed children among women aged ¡ess than 20 years or more than 39 years

Julio Nazer H

2007-11-01

164

Neonatal outcome and congenital malformations in children born after ICSI with testicular or epididymal sperm : a controlled national cohort study  

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Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome in children born after ICSI with ejaculated sperm, IVF and natural conception (NC)?

Fedder, J; Loft, A

2013-01-01

165

Alcohol, tabaco y malformaciones congénitas labioalveolopalatinas / Alcohol, tobacco and congenital alveolar cleft palate malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Actualmente, las drogas como el alcohol y el tabaco constituyen un grave problema de salud,pues además de ocasionar trastornos psicológicos, están relacionadas con lesiones orgánicas que, en muchos casos, llegan a ser irreversibles. Se realizó esta comunicación breve para mostrar las principales mal [...] formaciones congénitas, entre ellas las fisuras labiopalatinas, provocadas por el uso de estas drogas durante la etapa de gestación Abstract in english Currently, drugs such as alcohol and tobacco constitute a serious health problem, because besides causing psychological dysfunctions, they are related to organic lesions which, in many cases, become irreversible. A brief communication was carried out to show the main congenital malformations, among [...] them cleft lip and palate, caused by the use of these drugs during pregnancy

Grethel, Cisneros Domínguez; Ana Ibis, Bosch Núñez.

1293-12-01

166

[Advanced molecular technologies for the diagnosis of congenital malformation in neonates].  

Science.gov (United States)

Congenital malformation is one of the most frequent causes of infant death in western countries and major cities in China. Though genetic screening of newborns remains a hot issue and concern, the mortality rate associated with birth defects has not been significantly reduced over the past 20 years. Many genetic diseases manifest symptoms during the first 28 days of life, but full clinical symptoms might not be evident in newborns. Moreover, genetic aberrations is highly heterogeneous. These complicated factors lead to the establishment of diagnosis based on nonspecific or obscure symptoms. Recently developed array comparative genomic hybridization (CGH) and next generation sequencing (NGS) techniques with efficient high-resolution allow to screening of the entire genome for DNA copy number variants and sequencing respectively. These new and powerful tools can shorten the differential diagnosis process and quicken to movement towards targeted treatment and genetic and prognostic counseling. PMID:24229588

Yang, Lin; Wang, Hui-Jun; Huang, Guo-Ying; Zhou, Wen-Hao

2013-11-01

167

Case studies in X-ray diagnosis and clinical significance of congenital malformations of celiac trunk  

International Nuclear Information System (INIS)

Case histories are presented of the most frequently occurring congenital malformations of truncus celiacus. In addition to the variations in the origin and the course of vessels of tripus Halleri, there are frequent hypoplasias of vessels and orficial compressions, caused by an anomalous course of ligamentum arcuatum. Attention is also drawn to the evaluation of the importance of vascular anomalies from the point of view of blood circulation changes detected by angiography, used until recently also in clinical practice. In the last years digital subtration angiography and ultrasonography in combination with the method of duplex scanning-excercise Doppler, replace classical abdominal angiography and objectively image regional hypoperfusion of organs in cases of clinically uncertain abdominal symptomatology. (author). 7 figs., 15 refs

168

Exploratory Spatial Data Analysis of Congenital Malformations (CM in Israel, 2000–2006  

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Full Text Available Congenital Malformations (CM impose a heavy burden on families and society. Identification of spatial patterns of CM is useful for understanding the epidemiology of this public health issue. In Israel, about 1,000,000 births and 25,000 CM cases at 37 groups were geocoded during 2000–2006. These were geo-analyzed using global-Moran’s-I statistics. Eight groups demonstrated geospatial heterogeneity and were further analyzed at both the census tract (Local Indicator of Spatial Association (LISA and hot spot analyses and street levels (spatial scan statistics with two population threshold sizes. The positional definition of results is further discussed in relevance to possible exposure to teratogenic sources in the region. Limitations of data and methods used are presented as well.

Ammatzia Peled

2013-03-01

169

A Case of Congenital Cystic Adenomatoid Malformation Infected with Mycobacterium avium-intracellulare Complex.  

Science.gov (United States)

We present a case of congenital cystic adenomatoid malformation (CCAM) in a 25-year-old male who was presented with chronic cough. Chest radiography revealed an abnormal mass-like shadow in the right lower pulmonary zone. A contrast enhanced computed tomography showed an 11 cm solid, cystic mixed mass on the right lower lobe. A right lower lobectomy was performed by video-assisted thoracoscopic surgery without complications. The gross specimen showed a massive cavitation with multiloculated cysts of varying size, consistent with CCAM, along with noticeable granulomatous inflammation. Non-tuberculosis mycobacteria were isolated from a bronchial wash specimen, and the resected tissue homogenates were positive for Mycobacterium avium-intracellulare complex by polymerase chain reaction. PMID:23390450

Kim, Yong Jin; Kim, Do Young; Seo, Jung Woong; Lee, Song Am; Hwang, Jae Joon; Kim, Hee Joung; Lee, Kye Young

2013-01-01

170

Lumbo-Costo-Vertebral Syndrome with Congenital Lumbar Hernia  

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Full Text Available Lumbo-costo-vertebral syndrome (LCVS is a set of rare abnormalities involving vertebral bodies, ribs, and abdominal wall. We present a case of LCVS in a 2-year-old girl who had a progressive swelling over left lumbar area noted for the last 12 months. Clinical examination revealed a reducible swelling with positive cough impulse. Ultrasonography showed a defect containing bowel loops in the left lumbar region. Chest x-ray showed scoliosis and hemivertebrae with absent lower ribs on left side. Meshplasty was done.

Lucky Gupta

2014-02-01

171

Prenatal diagnostics of congenital malformations, the most efficient way to decrease genetic consequences of Chernobyl accident  

International Nuclear Information System (INIS)

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. Accoregnant 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 in the last 5 years about 500 pregnancies were terminated annually for genetic reasons. Over 100 pregnancies were terminated in Gomel region, which considerably reduced (by 1-3%) perinatal mortality, children's morbidity and disability. The number of children, born with the anomalies of the central nervous system, renal polycystosis and agenesis, omphalocele, reduction limb defects, is decreasing most considerably. The potentialities of prenatal diagnostics of CM are far from being used adequately in the Republic. With sufficient financing, present-day techniques allow prenatal diagnosing of 1000 cases instead of 600 diagnosed each year. The program will be productive, if prenatal biochemical screening and invasive prenatal procedures are financed regularly and interregional centres for prenatal diagnostics are created. These measures will not only reduce the proportion of children, born with congenital malformations, but increase the birth rate in Belarus, since the future mothers will not be scared to give birth to a malformed child, which is especially essential for the population exposed to radiation due to Chernobyl accident (authors)

172

Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects  

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Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in females 30.40.Conclusion: This report documents the prevalence estimates for birth defects reported in the hospital discharge data. These estimates are important to 1 plan for health-care and education needs of the Ecuadorian population, 2 identify increased occurrences of birth defects in specific geographic regions, 3 serve as a reference point for assessment of provincial surveillance systems, 4 evaluate national public health interventions, 5 compare Ecuador prevalence estimates with those of other countries, and 6 help determine the appropriate allocation of resources for basic and public health research. There is an urgent need to establish a National Registry of Birth Defects involving different sources of information such as prenatal medical records, birth records and medical records during the first year of life at an early stage, and surveys on cytogenetic prenatal diagnostic surveys and cytogenetics of therapeutic abortions.Keywords: Ecuador, genetics, birth defects surveillance, database, prevalence, epidemiology, congenital malformations

Fabricio González-Andrade

2010-04-01

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Use of ondansetron during pregnancy and congenital malformations in the infant.  

Science.gov (United States)

The study investigates teratogenic risks with ondansetron (Zofran(®)). Data from the Swedish Medical Birth Register combined with the Swedish Register of Prescribed Drugs were used to identify 1349 infants born of women who had taken ondansetron in early pregnancy, 1998-2012. Presence of congenital malformations in the offspring was identified with three national health registers. In a Mantel-Haenszel analysis adjustment was made for year of delivery, maternal age, parity, smoking in early pregnancy and pre-pregnancy body mass index. Risks were expressed as odds or risk ratios with 95% confidence intervals. No statistically significantly increased risk for a major malformation was found. The risks for a cardiovascular defect and notably a cardiac septum defect were increased and statistically significant (OR=1.62, 95% CI 1.04-2.14, and RR 2.05, 95% CI 1.19-3.28, respective). The teratogenic risk with ondansetron is low but an increased risk for a cardiac septum defect is likely. PMID:25450422

Danielsson, Bengt; Wikner, Birgitta Norstedt; Källén, Bengt

2014-12-01

174

Comparing Late-onset and Neonatally-diagnosed Congenital Cystic Adenomatoid Malformation of the Lung  

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Full Text Available Background: Most congenital cystic adenomatoid malformations (CCAM are found inutero or during the immediate neonatal period. Some malformations regressin utero, while others persist and remain unnoticed until later in childhood.The optimal clinical management of patients with CCAM is controversial.The aim of this study is to suggest a safe strategy for treatment of CCAMbased upon the age of the patient at diagnosis, by analyzing the clinical featuresof CCAM and considering the possibility of regression in early infancy.Method: This is an observational retrospective study of 19 patients with CCAM. Theclinical features, histopathological classification, status of lesion regression,diagnostic method, treatment, and outcome were collected. Patient data wereanalyzed highlighting age at disease presentation.Results: Five out of the seven neonates with neonatally-diagnosed CCAM presentedwith respiratory distress. Eight of the twelve patients in the late-onset grouphad respiratory tract infections. Regression of the lesion during the earlypostnatal period was documented in 4 neonatally-diagnosed CCAMs, whilenone of the patients in the late-onset group showed signs of radiographicchanges after a mean follow up of 4 years. Skeletal malformation was themost common associated anomaly in our series.Conclusion: Conservative treatment is suggested for neonatally-diagnosed CCAMbecause of possible postnatal remission. Surgery may be required in olderpatients because of possible recurrent infections, infrequent mass regression,radiation exposure, and inconveniencies during follow-up visits. A thoroughsurvey of possible associated skeletal anomalies in patients with CCAM isalso recommended as early correction can improve life quality.

Sui-Ling Liao

2010-02-01

175

La edad paterna como factor de riesgo para malformaciones congénitas Paternal age as a risk factor for congenital malformations  

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Full Text Available The role of advanced maternal age as a risk factor for congenital malformations in offspring is known. However, the influence of paternal age is not clear. Aim: To evaluate the association between advanced paternal age and the risk for congenital malformations. Patients and Methods: Analysis of maternal and paternal age of cases (malformed newborns and controls from ECLAMC Database (Latin American Collaborative Study of Congenital Malformations registered at the University of Chile Clinical Hospital during the decade from Jan 1 1997 to Dec 31 2006. Newborns and stillborns were grouped according to maternal age into 6 intervals. In each interval, paternal ages of cases and controls were compared. The inverse procedure was performed to assess maternal age effect. Other variables as gestational age and birth weight were analyzed for the intervals of maternal and paternal ages. Results: No significant differences were observed in paternal age between cases and controls in any of the intervals of maternal age. However, mean maternal age was higher for cases than for controls (p =0,0149. Gestational age and birth weight depend more on being case or control than on the age of parents. Conclusions: No differences in paternal age were observed between cases and controls in this series of newborns

Julio Nazer H

2008-02-01

176

La edad paterna como factor de riesgo para malformaciones congénitas / Paternal age as a risk factor for congenital malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english The role of advanced maternal age as a risk factor for congenital malformations in offspring is known. However, the influence of paternal age is not clear. Aim: To evaluate the association between advanced paternal age and the risk for congenital malformations. Patients and Methods: Analysis of mate [...] rnal and paternal age of cases (malformed newborns) and controls from ECLAMC Database (Latin American Collaborative Study of Congenital Malformations) registered at the University of Chile Clinical Hospital during the decade from Jan 1 1997 to Dec 31 2006. Newborns and stillborns were grouped according to maternal age into 6 intervals. In each interval, paternal ages of cases and controls were compared. The inverse procedure was performed to assess maternal age effect. Other variables as gestational age and birth weight were analyzed for the intervals of maternal and paternal ages. Results: No significant differences were observed in paternal age between cases and controls in any of the intervals of maternal age. However, mean maternal age was higher for cases than for controls (p =0,0149). Gestational age and birth weight depend more on being case or control than on the age of parents. Conclusions: No differences in paternal age were observed between cases and controls in this series of newborns

Julio, Nazer H; Lucía, Cifuentes O; Francisca, Millán Z; Paola, Vacarisas A; Stephanie, Köbrich Sch; Alfredo, Aguila R.

2008-02-01

177

Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation : A Register-Based Nationwide Cohort Study  

DEFF Research Database (Denmark)

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 (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 during the 12 weeks before conception and an increased risk of heart and limb defects.

Andersen, Jon Trærup; Petersen, Morten

2013-01-01

178

Congenital cystic adenomatoid malformation of fetus: manifestations and diagnosis of MRI  

International Nuclear Information System (INIS)

Objective: To demonstrate the MRI manifestations of congenital cystic adenomatoid malformation (CCAM) and to evaluate the diagnostic value of MRI. Methods: Thoracic axial, sagittal and coronal plane scanning were performed with SSFSE in 9 fetuses diagnosed or suspected of CCAM by ultrasound(US) within 1-2 days after US examination. The diagnosis was confirmed by postnatal autopsy or follow-up. Results: In nine fetuses, seven cases of CCAM were diagnosed with MRI and confirmed by autopsy, one case was congenital pulmonary sequestration, one was normal on MRI and two weeks late US. In seven cases of CCAM (5 males and 2 females), four cases were in the right side, three in the left. Four cases of macrocystic type CCAM showed single or multiple cystic long T2 signal in the unilateral lung, three cases of microcystic type CCAM presented long T2 signal without cyst. Vessels with flow void phenomenon were found in 2 cases of CCAM and 1 case of pulmonary sequestration. Conclusion: MRI can clearly show the location, range and contour of CCAM. The vessel originated from the aorta is suggestive of pulmonary sequestration. (authors)

179

Presentación de un caso con múltiples malformaciones congénitas: asociación VACTERL. A case with multiple congenital malformations: VACTERL association.  

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Full Text Available La asociación VACTERL es un conjunto de malformaciones congénitas que ocurre en varias combinaciones, entre las cuales encontramos: malformaciones Vertebrales, atresia Anal, anomalías Cardiovasculares, fistula Traqueo esofágica, atresia Esofágica, malformaciones Renales y displasia de las extremidades (Limb, fundamentalmente en el hueso radial. Para su diagnóstico se requiere la presencia de, al menos, tres de los siete criterios enumerados y se realiza por medio de ecografía a partir de la semana 18 de gestación. Aun no se ha reconocido etiología específica para esta patología; se cree que es producto de una influencia teratogénica entre la cuarta y octava semana de gestación. El pronóstico de estos pacientes es muy pobre, ya que fallece el 50-85% de los niños en el primer año de vida, sobreviviendo después del primer año de vida solo un 12-15%. [Presentación de un caso con múltiples malformaciones congénitas: asociación VACTERL. MedUNAB 2011; 14:132-137]. ______________________________________________________________________VACTERL association is a group of birth defects occurring in various combinations, among which are: vertebral anomalies, anal atresia, cardiac defects, tracheo-oesophageal fistula with esophageal atresia, renal defects and limb dysplasia, mainly in the radial bone. To diagnostic is necessary at least three of the seven criteria listed and is performed by ultrasound after 18 weeks of gestation. Although no specific etiology has been recognized for this condition, is believed to be the result of undefined teratogenic influence acting between the fourth and eighth weeks of gestation. Prognosis for these patients is very poor, and who died on 50-85% of children in the first year and surviving after the first year of life only 12-15%. [Martínez S, Rincón L, Rueda F. A case with multiple congenital malformations: VACTERL association. MedUNAB 2011; 14:132-137

Silvia Cristina Martínez Rueda, MD*

2011-01-01

180

Prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980-2003.  

Science.gov (United States)

A retrospective study was conducted on the prevalence of congenital malformations in Cross River and Akwa Ibom states of Nigeria from 1980-2003. These states lie in the South-South geopolitical zone of Nigeria. The aim of the study was to determine the percentage of occurrence of birth defects and provide reference data for this part of the country. Details of congenital malformations were compiled by reviewing the delivery register of the records departments of maternity sections of University of Calabar Teaching Hospital, St Luke's Hospital Anua and St Mary's Hospital Uruakpan. A total of 127,929 births were recorded, of which 452 cases of malformations were recorded. The anomalies recorded in the skeletal system were the highest with 132 cases (29.2%) detected. Other malformations were found to be associated with the central nervous system with 111 cases (24.6%) detected. Those associated with the urogenital system were found in 83 cases (18.4%). Congenital anomalies of the lip, palate and jaw were found in 56 cases (12.4%), while those of the eye and ear were found in 12 cases (2.7%). Those of the gastrointestinal tract were found in 29 cases (6.4%), while those of the respiratory and cardiovascular systems were found in 28 cases (6.2%) and in one case (0.2%), respectively. Fifteen cases (3.3%) were associated with chromosomal abnormalities, such as Down syndrome. However, these results do not provide a complete incidence of congenital malformations in the two states studies because most anomalies are not recorded in rural health and traditional birth centers. PMID:18983583

Ekanem, Theresa B; Okon, Doris E; Akpantah, Amabe O; Mesembe, Otu E; Eluwa, Mokutima A; Ekong, Moses B

2008-12-01

 
 
 
 
181

Clinical application of the amplatzer vascular plug in the embolization of vascular malformations associated with congenital heart diseasee  

International Nuclear Information System (INIS)

Objective: To evaluate the clinical efficacy of percutaneous transcatheter embolization by using Amplatzer vascular plug (AVP) for the treatment of vascular malformations associated with congenital heart diseases. Methods: During the period of June 2006-June 2008, 12 patients with congenital heart disease accompanied by vascular malformations received transcatheter occlusion of the anomalous vessels with AVP. The vascular malformations included solitary or multiple saccular pulmonary arteriovenous malformation (n = 7), coronary artery fistula (n = 2) and major aortopulmonary collaterals concomitant with severe Fallot' s tetralogy (n = 3). All patients were screened with transthoracic echocardiography (TTE) and thoracic CT angiography (CTA), and all the diagnoses were confirmed by routine cardioangiography. Results: Transcatheter occlusion of vascular malformations with AVP was successfully accomplished in all 12 patients. An angiographic check immediately after the procedure showed that complete occlusion was obtained in all patients and no embolism,migration or residual shunt were seen. Sixteen anomalous vessels were occluded. The mean internal diameter of these vessels was (5.2 ± 1.9) mm,while the mean diameter of AVP used was (9.2 ± 2.4) mm. After the operation (mean 3 months), the follow-up echocardiography and/or thoracic CT angiography showed that in all patients the occlusion remained in satisfactory condition and no residual shunt was found. Conclusions: Persidual shunt was found. Conclusions: Percutaneous transcatheter closure of congenital vascular malformations with AVP is technically feasible and clinically effective, this treatment can markedly improve patient's living quality and it is well worth extending its clinical application. (authors)

182

Malformaciones Congénitas: Aspectos Generales y Genéticos / Congenital Malformations: General and Genetic Aspects  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish Los defectos del desarrollo se pueden deber a malformaciones congénitas, deformaciones o disrupciones. El 10% de las malformaciones se atribuyen a causas ambientales el 25% a factores genéticos y el 65% a factores desconocidos probablemente de orden multifactorial. Existe un período de mayor suscept [...] ibilidad frente a los teratógenos que corresponde a la etapa donde se están formando la mayoría de los órganos y sistemas. La ingestión de plantas teratogénicas puede dar lugar a anomalías congénitas en los fetos de animales. Los pesticidas como DDT, la contaminación de las aguas por mercurio y los disruptores endocrinos afectan la embriogénesis de las distintas especies del reino animal. También se consideran como factores causantes de malformaciones a los agentes ambientales infecciosos y a algunos medicamentos. Los agentes físicos como los aumentos de temperatura, las condiciones de hipoxia y las radiaciones afectan a distintos organismos, desde los peces al ser humano. La genética de las malformaciones ha sido difícil de establecer, principalmente porque la mayor parte de ellas se caracteriza por presentar manifestaciones fenotípicas diversas, que en muchos casos aparentemente no están relacionadas y que son variables para los individuos afectados. Por otra parte, los estudios realizados indican que frecuentemente, en la determinación genética de las malformaciones participan varios genes y las interacciones de éstos con el ambiente, aunque determinaciones monogénicas se han podido establecer para unos pocos casos. Ilustramos aquí estos dos tipos contrastantes de determinación genética, a través de la descripción de los factores genéticos que estarían involucrados en los defectos del tubo neural y en el síndrome de CHARGE, respectivamente. Abstract in english Developmental defects may be due to congenital malformations, deformations or disruptions; 10% of malformations are caused by environmental factors, 25% by genetics factors and 65% are due to unknown multifactorial problems. There is a developmental period of greater susceptibility to teratogens, wh [...] ich corresponds to the stages when most organs and systems are being formed. Ingestions of teratogenics plants may result in congenital anomalies in animal foetuses. Pesticide such as DDT, water contamination with the Hg and the endocrine disrupters affect embryogenesis of different animal species. As factors that provoke malformations there are environmental agents, infections and some drugs. Physical agents such as increased temperature, hypoxic conditions and radiation, affect different organisms from fishes to human. Genetic of malformations have been difficult to establish, mainly because most of them are characterized by diverse phenotypic aspects, apparently not related and variable for the different affected organisms. On the other hand, studies realized indicate that frequently in the genetic determination of malformations several genes and their interactions with the environment are involved, although it has been possible to establish monogenic determination for a few cases. Here we contrast these two types of genetic determination, describing the genetic factors involved in the neural tube defects and the CHARGE syndrome, respectively.

Mariana, Rojas; Laura, Walker.

1256-12-01

183

Detection of Factor XI Deficiency (FXID and Complex Vertebral Malformation (CVM in Bali Cattle  

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Full Text Available Factor XI Deficiency (FXID is caused by imperfect insertion of poly adenine which is resulted in introduction of premature stop codon in FXI gene. Substitution of guanine into thymine in SLC35A3 gene caused Complex Vertebral Malformation (CVM. The research was aimed to detect the presence or absence of a genetic defect mainly CVM using SLC35A3 gene and FXID using FXI gene in Indonesian Bali cattle. The presence of this genetic defect may have a significant economic impact on the breeding program. The research of genetic defect was done mostly in dairy cattle, but there was no report for screening of genetic defect in Bali cattle. In this study, 303 fresh blood samples and 22 semen samples which were collected from Indonesian Bali cattle breeding center (BPTU HMT Denpasar, BPT HMT Serading West Nusa Tenggara and district Barru South Sulawesi and artificial insemination centre (BBIB Singosari and BIBD Baturiti were used for screening of FXID and CVM. The amplicons of FXI gene were obtained by using PCR and that for SLC35A3 gene were obtained by using PCR-RFLP method with PstI restriction enzyme. These PCR products were analyzed by using 2% agarose gels electrophoresis. All genotypes were confirmed by DNA sequencing to determine an allele mutant. The allele mutant was not found in all of the samples. The result of this study showed that CVM and FXID were not detected in Bali cattle from Indonesian Bali cattle breeding and artificial insemination centres.

S. W. Siswanti

2014-12-01

184

Malformações congênitas em ruminantes no semiárido do Nordeste Brasileiro Congenital malformations in ruminants in the semiarid of the Brazilian Northeast  

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Full Text Available Malformações congênitas causadas pela ingestão de Mimosa tenuiflora têm sido observadas em ruminantes no semiárido do Nordeste Brasileiro. Neste trabalho foram estudadas as malformações congênitas em ruminantes diagnosticadas entre 2000 e 2008, em municípios da Paraíba, Pernambuco e Rio Grande do Norte. Durante o período foram recebidos 1.347 materiais de ruminantes para diagnóstico, desses 47 (3,48% foram dignosticados como malformações congênitas. Com base no tipo de malformação e na procedência do animal as malformações foram divididas em: 1 causadas pelo consumo de M. tenuiflora; e 2 malformações esporádicas, sem causa conhecida. De 418 materiais de ovinos, 21 corresponderam a malformações, sendo 18 (4,3% do total de materiais de malformações causadas por M. tenuiflora e 3 (0,71% de malformações esporádicas. De 434 materiais de bovinos, 14 foram diagnosticados como malformações, sendo 8 (1,84% causadas por M. tenuiflora e 6 (1,38% malformações esporádicas. De 495 materiais de caprinos, 12 apresentaram malformações, sendo 9 (1,81% causadas pela ingestão de M. tenuiflora e 3 (0,6% malformações esporádicas. As principais malformações causadas por M. tenuiflora foram artrogripose, micrognatia, palatosquise, microftalmia e hipoplasia ou aplasia unilateral ou bilateral dos ossos incisivos. As malformações esporádicas incluiram: acefalia e hermafroditismo, dicefalia e malformações de vasos intestinais em ovinos; atresia anal em três caprinos; e hidranencefalia, atresia anal, malformações de costelas com eventração, hipoplasia cerebelar e hidrocefalia, coristoma pulmonar e meningocele, e gêmeos siameses em bovinos. O caso de hipoplasia cerebelar com hidrocefalia foi negativo pela imuno-histoquímica para o vírus da diarreia viral bovina. Malformações congênitas causadas por M. tenuiflora ocorreram durante todo o ano. A maior frequência em ovinos está aparentemente associada ao consumo da planta, na primeira fase da gestação, após as primeiras chuvas, quando as ovelhas estão sendo suplementadas e a planta é o principal volumoso disponível. As malformações ocorrem principalmente nas áreas mais degradadas, onde existe maior disponibilidade da planta e menor variedade de plantas da caatinga.Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Grande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48% out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1 caused by the ingestion of M. tenuiflora, and 2 sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3% of malformations caused by M. tenuiflora and 3 (0.71% of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84% were caused by M. tenuiflora and 6 (1.38% were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81% malformations related with the ingestion of M. tenuiflora and 3 (0.6% sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypoplasia with hydrocephalus was negative on immunohistochemistry to bovine viral diarrhea virus. Malformations caus

Antônio Flávio M Dantas

2010-10-01

185

Cancer Risks in Parents Who had a Child with a Congenital Malformation  

DEFF Research Database (Denmark)

Cancer risk in parents may be related to congenital malformations (CMs) in their children if they share genetic susceptibility or environmental exposure that may be teratogenic and carcinogenic. We conducted a population-based cohort study based on Danish register data. We identified 795,607 mothers and 781,424 fathers who had all their children between 1977 and 2007 in Denmark. Information on CM was obtained from the Danish Hospital Registry and information on cancer was obtained from the Danish Cancer Registry. Parents were followed from the birth of their first child until the diagnosis of cancer, death, emigration, or December 31, 2007. We used Cox regression models to estimate hazard ratios (HRs) for cancer including cancer in specific organs in mothers and fathers. Overall, 75,701 (9.5%) mothers and 72,724 (9.3%) fathers had at least one child diagnosed with CMs within the first year of life. Neither mothers (HR = 1.04; 95% CI: 0.99-1.04) nor fathers (HR = 1.03; 95% CI: 0.98-1.09) who had a child with aCM had a higher overall risk of cancer. Mothers (HR = 0.76, 95% CI: 0.58-1.00) or fathers (HR = 0.89, 95% CI: 0.66-1.19) who had a child with a chromosomal malformation had a lower overall cancer risk. The findings also showed a higher risk for some specific types of cancer in parents who had children with a CM in the specific system. Some, or perhaps all, of these findings may be due to chance caused by multiple comparisons. We present all results on paper or online to provide clues for further research and to avoid publication bias.

Sun, Yuelian; Overvad, Kim

2013-01-01

186

Prenatally Detected Congenital Perineal Mass Using 3D Ultrasound which was Diagnosed as Lipoblastoma Combined with Anorectal Malformation: Case Report  

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We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at a gestational age of 23 weeks the fetal perineal mass were found on the right side. Any other defects were not visible on ultrasonography during whole gestation. Amniocentesis was performed to evaluate the fetal karyotyping and acetylcholinesterase which were also nor...

Ahn, Ki Hoon; Boo, Yoon Jung; Seol, Hyun Joo; Park, Hyun Tae; Hong, Soon Cheol; Oh, Min Jeong; Kim, Tak; Kim, Hai Joong; Kim, Young Tae; Kim, Sun Haeng; Lee, Kyu Wan

2010-01-01

187

Antenatal and postnatal management of congenital cystic adenomatoid lung malformation diagnosed by ultrasound and Magnetic Resonance Imaging (MRI)  

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Purpose: Antenatal diagnosis of congenital cystic adenomatoid lung malformation (CCAM) is vital for disease surveillance and postnatal care. Ultrasonography (US) has been the imaging gold standard for antenatal CCAM assessment. However, one of the limitations of US is the “vanishing phenomenon” caused by isoechogenicity of CCAM tissue and adjacent normal lung parenchyma. Methods: Antenatal serial US were concurrently used with magnetic resonance imaging (MRI) to monitor macro- and microcy...

Gruessner, Susanne E.; Hermann Hertel; Eva Bültmann; Omwandho, Charles O. A.; Gerhard Alzen; Corinna Peter

2012-01-01

188

Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report  

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Abstract Introduction Congenital renal arteriovenous malformations (AVMs) are very rare benign lesions. They are more common in women and rarely manifest in elderly people. In some cases they present with massive hematuria. Contemporary treatment consists of transcatheter selective arterial embolization which leads to resolution of the hematuria whilst preserving renal parenchyma. Case presentation A 72-year-old man, who was heavy smoker, presented with massive ...

Sountoulides P; Zachos I; Paschalidis K; Asouhidou I; Fotiadou A; Bantis A; Palasopoulou M; Podimatas T

2008-01-01

189

Congenital malformation of fetus in a pregnancy following spontaneous ovulation in a case of premature ovarian failure  

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Premature ovarian failure (POF), that is, amenorrhea before 40 years of age can be attributed to a variety of etiologies. Approximately 1% of women before 30 years are diagnosed with POF. Spontaneous ovulation leading to pregnancy in POF is even a rarer entity. We report a case where congenital malformations were diagnosed in a fetus following spontaneous ovulation in a case of POF. A 33-year-old woman presented to our center with primary infertility. On complete work up, she was diagn...

Selvaraj Priya; Selvaraj Kamala; Agrawal Megha; Singh Gunjan

2010-01-01

190

Cerebral Cavernous Malformation  

Science.gov (United States)

NINDS Cerebral Cavernous Malformation Information Page Synonym(s): Cavernomas, Cavernous Angioma, Congenital Vascular Cavernous Malformations, Familial Hemangioma, Nevus Cavernosus, Vascular Erectile Tumor, Cavernous Malformation Table of Contents (click to jump to sections) ...

191

Malformações congênitas em ruminantes no semiárido do Nordeste Brasileiro / Congenital malformations in ruminants in the semiarid of the Brazilian Northeast  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese Malformações congênitas causadas pela ingestão de Mimosa tenuiflora têm sido observadas em ruminantes no semiárido do Nordeste Brasileiro. Neste trabalho foram estudadas as malformações congênitas em ruminantes diagnosticadas entre 2000 e 2008, em municípios da Paraíba, Pernambuco e Rio Grande do No [...] rte. Durante o período foram recebidos 1.347 materiais de ruminantes para diagnóstico, desses 47 (3,48%) foram dignosticados como malformações congênitas. Com base no tipo de malformação e na procedência do animal as malformações foram divididas em: 1) causadas pelo consumo de M. tenuiflora; e 2) malformações esporádicas, sem causa conhecida. De 418 materiais de ovinos, 21 corresponderam a malformações, sendo 18 (4,3% do total de materiais) de malformações causadas por M. tenuiflora e 3 (0,71%) de malformações esporádicas. De 434 materiais de bovinos, 14 foram diagnosticados como malformações, sendo 8 (1,84%) causadas por M. tenuiflora e 6 (1,38%) malformações esporádicas. De 495 materiais de caprinos, 12 apresentaram malformações, sendo 9 (1,81%) causadas pela ingestão de M. tenuiflora e 3 (0,6%) malformações esporádicas. As principais malformações causadas por M. tenuiflora foram artrogripose, micrognatia, palatosquise, microftalmia e hipoplasia ou aplasia unilateral ou bilateral dos ossos incisivos. As malformações esporádicas incluiram: acefalia e hermafroditismo, dicefalia e malformações de vasos intestinais em ovinos; atresia anal em três caprinos; e hidranencefalia, atresia anal, malformações de costelas com eventração, hipoplasia cerebelar e hidrocefalia, coristoma pulmonar e meningocele, e gêmeos siameses em bovinos. O caso de hipoplasia cerebelar com hidrocefalia foi negativo pela imuno-histoquímica para o vírus da diarreia viral bovina. Malformações congênitas causadas por M. tenuiflora ocorreram durante todo o ano. A maior frequência em ovinos está aparentemente associada ao consumo da planta, na primeira fase da gestação, após as primeiras chuvas, quando as ovelhas estão sendo suplementadas e a planta é o principal volumoso disponível. As malformações ocorrem principalmente nas áreas mais degradadas, onde existe maior disponibilidade da planta e menor variedade de plantas da caatinga. Abstract in english Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Gr [...] ande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48%) out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1) caused by the ingestion of M. tenuiflora, and 2) sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3%) of malformations caused by M. tenuiflora and 3 (0.71%) of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84%) were caused by M. tenuiflora and 6 (1.38%) were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81%) malformations related with the ingestion of M. tenuiflora and 3 (0.6%) sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypo

Antônio Flávio M, Dantas; Franklin, Riet-Correa; Rosane M.T, Medeiros; Glauco José N. de, Galiza; Luciano da A, Pimentel; Bruno L. dos, Anjos; Rinaldo A, Mota.

2010-10-01

192

[Congenital cervical vertebral dysmorphism. Syndromatic integration through radiological clinical correlation].  

Science.gov (United States)

Cervical spine dysmorphisms (CSD) occurs in an heterogeneous group of patients unified by the presence of congenital defects result from malalignment, formation or segmentation of the cervical spine; generating disability. This problem requires comprehensive evaluation of patients with scoliosis diagnosis, correlating clinical and radiological findings and the presence of numerous abnormalities of other systems in order to give an opportunely syndrome diagnosis and multidisciplinary management of this patients with the aim to give them an integral rehabilitation treatment increasing their quality of life. In this study we described clinical and radiological findings in children with CSD diagnosis. We studied 47 consecutive outpatients of Pediatric Rehabilitation Division in Instituto Nacional de Rehabilitaci6n (INR) with scoliosis diagnosis. Sixteen patients (34%) had CSD diagnosis. Most frequently syndromes (Sx) were: Klippel-Feil Sx (19%), Wildervanck (4.3%), neurofibromatosis (4.3%), Morquio (2.1%), Stickler (2.1%) and Williams (2.1%). We found CSD diagnosis in 34% of group studied, greater than medical literature. PMID:17937176

Santillán Chapa, Concepción G; Martínez Coria, Elisa; Reyes Marín, Baltasar; García Gutiérrez, Guillermina

2007-01-01

193

[Congenital arterio-venous malformations of the hand (type C)--the only therapeutic option].  

Science.gov (United States)

We report on a 36-year-old male patient with a congenital arterio-venous malformation (type C) of the hand. Symptoms onset was three years ago with an ulcer on the tip of the left middle finger, with the fingers and the palm of the hand turning increasingly livid. The shunt-volume in the area of an arterio-venous fistula was 70 ml/min, there was also involvement of the third metacarpal bone. Increasing pain from the index to the ring fingers with no tendency of healing in the middle finger were indications for surgical intervention. In view of the diffuse expansion to all the tissue layers and the danger of peripheral circulatory disturbance and associated necrosis if embolisation was performed, the entire middle finger along with the third metacarpal bone was resected, and the index and the ring fingers were also amputated. Seven months postoperatively, the patient had no pain, had good grip function and was able to use his hand freely in his job as a labourer. PMID:12601609

Pülzl, P; Gschnitzer, C; Tzankov, A; Waldenberger, P; Piza-Katzer, H

2002-11-01

194

Congenital malformations of the supratentorial brain. Pt. 2. Disorders of the corpus callosum and holoprosencephalies  

International Nuclear Information System (INIS)

The corpus callosum is formed between the 7th and the 20th gestational week. If this process is disrupted, partial or complete callosal agenesis may ensue. As large parts of the supra- and infratentorial brain are created druing this critical period, associated anomalies need always to be searched for when callosal agenesis is present. Associations with neuro-genetic syndromes also exist. The corpus callosum is generally formed from front to back (''front-to-back rule''). Therefore, a partial callosal agenesis usually involves the posterior portion of the corpus callosum, while a secondary lesion of the corpus callosum does not follow this rule. Holoprosencephalies are a notable exception to this rule, as the frontal part of the corpus callosum is absent in spite of their classification as congenital malformations. They represent a disturbance of the differentiation and cleavage of the prosencephalon with a disruption of the separation of the cerebral hemispheres. Holoprosencephalies can be due to genetic causes, but also to intrauterine infections or other teratogenic causes. The holoprosencephalies are subdivided into alobar, semilobar and lobar holoprosencephalies. This article aims to describe the most important features of callosal agenesis and holoprosencephalies highlighting the respective imaging characteristics. (orig.)

195

A prospective study on congenital malformations in the high background radiation areas of Kerala  

International Nuclear Information System (INIS)

Hospital based epidemiological study on congenital anomalies carried out in the high level natural radiation (HLNR) areas of southern Kerala since 1995 to assess the hereditary effects, if any, of HLNR is reported here. Thorium, Uranium to a limited extent, and corresponding decay products in the natural deposits of monazite sand is the source of radiation. HLNR and normal level natural radiation (NLNR) areas are interwoven due to the patchy and non-uniform distribution of monazite in the region. Areas with a mean dose of more than 1.5 mGy/year were treated as HLNR areas and those with 1.5 mGy/year or less, as NLNR. High population density, limited migration, ethnic diversity, good literacy, health awareness, institutionalized births and acceptance of small family norm are some of the key features of the population. The comparison of individual malformation in HLNR and NLNR areas are presented and efforts are on to accrue sufficient sample size to enable the comparison

196

Prevalence of Congenital Cardiovascular Malformations in Children of Human Immunodeficiency Virus-Infected Women: The Prospective P2C2 HIV Multicenter Study  

Science.gov (United States)

Objectives The purpose of the study was to assess the effects of maternal HIV-1 (human immunodeficiency virus) infection and vertically transmitted HIV-1 infection on the prevalence of congenital cardiovascular malformations in children. Background In the United States, an estimated 7000 children are born to HIV-infected women annually. Previous limited reports have suggested an increase in the prevalence of congenital cardiovascular malformations in vertically transmitted HIV-infected children. Methods In a prospective longitudinal multicenter study, diagnostic echocardiograms were performed at 4–6-month intervals on two cohorts of children exposed to maternal HIV-1 infection: 1) a Neonatal Cohort of 90 HIV-infected, 449 HIV-uninfected and 19 HIV-indeterminate children; and 2) an Older HIV-Infected Cohort of 201 children with vertically transmitted HIV-1 infection recruited after 28 days of age. Results In the Neonatal Cohort, 36 lesions were seen in 36 patients, yielding an overall congenital cardiovascular malformation prevalence of 6.5% (36/558), with a 8.9% (8/90) prevalence in HIV-infected children and a 5.6% (25/449) prevalence in HIV-uninfected children. Two children (2/558, 0.4%) had cyanotic lesions. In the Older HIV-Infected Cohort, there was a congenital cardiovascular malformation prevalence of 7.5% (15/201). The distribution of lesions did not differ significantly between the groups. Conclusions There was no statistically significant difference in congenital cardiovascular malformation prevalence in HIV-infected versus HIV-uninfected children born to HIV-infected women. With the use of early screening echocardiography, rates of congenital cardiovascular malformations in both the HIV-infected and HIV-uninfected children were five- to ten-fold higher than rates reported in population-based epidemiologic studies but not higher than in normal populations similarly screened. Potentially important subclinical congenital cardiovascular malformations were detected. PMID:9822105

Lai, Wyman W.; Lipshultz, Steven E.; Easley, Kirk A.; Starc, Thomas J.; Drant, Stacey E.; Bricker, J. Timothy; Colan, Steven D.; Moodie, Douglas S.; Sopko, George; Kaplan, Samuel

2015-01-01

197

Congenital malformations, stillbirths, and early mortality among the children of atomic bomb survivors: A reanalysis  

International Nuclear Information System (INIS)

Of all the data sets pertinent to the estimation of the genetic risks to humans following exposure to ionizing radiation, potentially the most informative is that composed of the cohort of children born to atomic bomb survivors. We present here an analysis of the relationship between parental exposure history and untoward pregnancy outcomes within this cohort, using to the fullest extent possible the recently revised estimates of the doses received by their parents, the so-called DS86 doses. Available for study are 70,073 terminations, but DS86 doses have not been or presently cannot be computed on the parents of 14,770. The frequency of untoward pregnancy outcomes, defined as a pregnancy terminating in a child with a major congenital malformation, and/or stillborn, and/or dying in the first 14 days of life, increases with combined (summed) parental dose, albeit not significantly so. Under a standard linear model, when the sample of observations is restricted to those children whose parents have been assigned the newly established DS86 doses (n = 55,303), ignoring concomitant sources of variation and assuming a neutron RBE of 20, the estimated increase per sievert in the predicted frequency of untoward outcomes is 0.00354 (+/- 0.00343). After adjustment for concomitant sources of variation, the estimated increase per sievert in the proportion of such births is 0.00422 (+/- 0.00342) if the neutron RBE is assumed to be 20. A one-hit model with appropriate adjustments fo-hit model with appropriate adjustments for extraneous sources of variation results in an almost identical value, namely, 0.00412 (+/- 0.00364)

198

The imaging manifestation of congenital cystic adenomatoid malformation of the lung in children  

International Nuclear Information System (INIS)

Objective: To describe the imaging manifestation in 8 cases of congenital cystic adenomatoid malformation of the lung in children (CCAM) in order to improve the recognition. Methods: Seven males and 1 female were reported, and the mean age was 3 years 10 months. The complaints were cough, fever, and chest distress repeated for 4 days to 8 years. Chest films and CT scan were performed in all cases before operation and three of them were examined by high-resolution CT. All cases were confirmed by operation and pathology as CCAM. Results: (1) On chest films, 4 cases showed single or multiple large air cystic lesions (> 3 cm in diameter), one case only showed localized hazy and curl-like markings, and 3 cases showed honeycomb-like small cystic lesions (< 3 cm in diameter). All cases were complicated with emphysema on affected side. 6 cases showed pulmonary hernia of mediastinum. (2) On CT scan, each lung were involved in 4 cases, 2 cases showed large air cyst (almost 9 cm in diameter), 2 cases showed roundness thin-wall air cystic lesions (3.8-5.6 cm in diameter), and 4 cases showed multiple irregular small air cystic lesions (0.2-3.2 cm in diameter) and adenoid change. The cysts were filled with air but with small amount of liquid in only 3 cases. All lesions showed obvious space occupying sign. (3) The pathologic findings, the cyst was paraplasmic glandular or bronchiolar structures, cyst wall was lined with ciliated pseudo-stratified columnar epithelium in 3 cases and tified columnar epithelium in 3 cases and lined by cuboids to columnar epithelium in 5 cases. The cyst wall contained smooth muscle and elastic tissue. Cartilage plates were not present in all cases. Conclusion: Imaging examination is a reliable method in diagnosing CCAM. It can provide the diagnosis in location and quality. CT scan can improve the detection rate of CCAM

199

A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.

Cakan Nedim

2009-12-01

200

Malformaciones congénitas en Chile y Latino América: Una visión epidemiológica del ECLAMC del período 1995-2008 / Congenital malformations in Latin America in the period 1995-2008  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: The Latin American Study of Congenital Malformations (ECLAMC) hasperformed an epidemiológica! surveillance of congenital malformations since 1967. This allows to detectany unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. Aim: [...] To report a summary ofthe results thusfar obtained in this study. Material ana Methods: The ECLAMC datábase was analyzed and all Uve births and stillbirths ofmore than 500 grams in the period 1995-2008, were analyzed. Results: There were 2,409,407 births in the nine participant countries. Ofthese 31,516 (1.3%) were stillbirths. The global rate of congenital malformations in this sample was 2.7%. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest ofthe countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25%), followed by Colombia (23%). Chile had the higherpercentage ofwomen aged 35years or moregiving birth (14%), followed by Uruguay (13%). However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6per 10000). Conclusions: There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.

JULIO, NAZER H; LUCÍA, CIFUENTES O.

2011-01-01

 
 
 
 
201

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

Directory of Open Access Journals (Sweden)

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

Peter Agergaard

2011-02-01

202

Selective bronchial intubation in a preterm infant with congenital cystic adenomatoid malformation and pulmonary air leak syndrome.  

Science.gov (United States)

A preterm infant with congenital cystic adenomatoid malformation (CCAM) who developed a right-sided pulmonary air leak syndrome (pulmonary interstitial emphysema and bronchopleural fistula) following CCAM resection is reported. The pulmonary air leak syndrome was successfully ameliorated by intubating the right mainstem bronchus using a modified endotracheal tube that allowed selective ventilation of the left lung. The procedure was used successfully as rescue treatment to control the pulmonary air leak and to confirm the functional adequacy of the left lung prior to definitive operative surgery. PMID:22845869

Balegar V, Kiran Kumar; Barr, Peter A; McCauley, James Charles; Thomas, Gordon

2013-01-01

203

Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos / Oculo-auriculo-vertebral spectrum in patients with congenital heart defects / Espectro óculo-aurículo-vertebral en pacientes con defectos cardíacos congénitos  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese FUNDAMENTO: Há poucos estudos avaliando a frequência do espectro óculo-aurículo-vertebral (EOAV) nos pacientes com defeitos cardíacos congênitos (DCC). OBJETIVO: Verificar a frequência do EOAV em uma amostra de pacientes com malformações cardíacas graves. MÉTODOS: Avaliamos uma coorte prospectiva de [...] pacientes com DCC, admitidos em uma unidade de terapia intensiva (UTI) cardiopediátrica no Brasil. O diagnóstico de EOAV foi feito com base em dados clínicos, considerando critérios padrões. Os pacientes que preenchiam esses critérios foram submetidos ao cariótipo de alta resolução com bandamento GTG e hibridização fluorescente in situ para a microdeleção 22q11.2. O teste exato de Fisher (P Abstract in spanish FUNDAMENTO: Hay pocos estudios evaluando la frecuencia del espectro óculo-aurículo-vertebral (EOAV) en los pacientes con defectos cardíacos congénitos (DCC). OBJETIVO: Verificar la frecuencia del EOAV en una muestra de pacientes con malformaciones cardíacas graves. MÉTODOS: Evaluamos una cohorte pro [...] spectiva de pacientes con DCC, admitidos en una unidad de terapia intensiva (UTI) cardiopediátrica en el Brasil. El diagnóstico de EOAV fue hecho con base en datos clínicos, considerando criterios estándares. Los pacientes que llenaban esos criterios fueron sometidos al cariotipo con bandeamiento GTG en alta resolución e Hibridización fluorescente in situ para la microdelección 22q11.2. El Test Exacto de Fisher (P Abstract in english BACKGROUND: There have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS) in patients with congenital heart defects (CHDs). OBJECTIVE: To verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS: We evaluated a prospective cohort [...] of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU) in Brazil. The diagnosis of OAVS was made based on the clinical data, considering standard criteria. The patients that met these criteria were submitted to high resolution GTG-Banding karyotype and fluorescence in situ hybridization for 22q11.2 microdeletion. Fisher's exact test (P

Rafael Fabiano Machado, Rosa; Paulo Ricardo Gazzola, Zen; José Antônio Monteiro, Flores; Eliete, Golendziner; Carlo Benatti, Pilla; Tatiana, Roman; Marileila, Varella-Garcia; Giorgio Adriano, Paskulin.

2010-10-01

204

Intra-abdominal pulmonary sequestration exhibiting congenital cystic adenomatoid malformation. Report of a case and review of the literature.  

Science.gov (United States)

We describe the fifth case, to our knowledge, of an intra-abdominal pulmonary sequestration that histologically displayed the features of congenital cystic adenomatoid malformation (CCAM) type 2. This mass was found during routine prenatal ultrasound in an infant with no other congenital malformations. A literature search found 13 previously reported cases of CCAM in extralobar pulmonary sequestration (EPS), nine of which were thoracic and only four were intra-abdominal. An analysis of our case and the 13 previously reported cases shows that the clinical features of EPS containing CCAM type 2 do not differ significantly from those of EPS occurring alone. The presence of CCAM type 2 in our patient is consistent with previously reported cases. Extralobar pulmonary sequestrations located in the abdomen are rarely diagnosed prior to excision, and the presence of CCAM type 2 in this situation may further compound diagnostic difficulties. The morphologic features separating CCAM into three distinct types and the exclusive association of CCAM type 2 occurring in EPS are also discussed. PMID:7944891

Aulicino, M R; Reis, E D; Dolgin, S E; Unger, P D; Shah, K D

1994-10-01

205

Atypical goblet cell hyperplasia in congenital cystic adenomatoid malformation as a possible preneoplasia for pulmonary adenocarcinoma in childhood: a genetic analysis  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Congenital cystic adenomatoid malformation (CCAM) of the lung is a congenital lesion that is sometimes complicated by bronchioloalveolar adenocarcinoma (BAC). In some cases foci of atypical goblet cell hyperplasia (AGCH) can be found within the cysts. It has been proposed that CCAM and AGCH predispose to the development of BAC. The present study used comparative genomic hybridization (CGH) to screen 22 cases of CCAM (epithelium, surrounding normal lung tissue, and both preneoplastic and neopl...

Stacher, Elvira; Ullmann, Reinhard; Halbwedl, Iris; Gogg-kammerer, Margit; Boccon-gibod, Liliane; Nicholson, Andrew G.; Sheppard, Mary N.; Carvalho, Lina; Franca, Maria Teresa; Macsweeney, Fergus; Morresi-hauf, Alicia; Popper, Helmut H.

2004-01-01

206

Screening for congenital malformations by ultrasonography in the general population of pregnant women: factors affecting the efficacy.  

DEFF Research Database (Denmark)

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 examined by midtrimester ultrasound scan during 1997 and 1998. The infants were followed up to the age of at least 1 year. The main outcome measures were the detection rate (DR) of fetal abnormalities in relation to patient factors, staff factors, team and work environment factors. RESULTS: Significant 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. 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 of the staff were at work. CONCLUSIONS: Some team and work environment factors that may affect the detection rate of fetal abnormalities were identified and have been changed: appointments for screening have been reorganized, regular breaks for all the staff introduced and second opinions are given by a specialist in fetomaternal medicine. The new system will be followed up to ensure that the reorganization has not created new organizational mistakes.

Tabor, Ann; Zdravkovic, Milica Branislava

2003-01-01

207

Tratamento cirúrgico das malformações pulmonares congênitas em pacientes pediátricos / Surgical treatment of congenital lung malformations in pediatric patients  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: Determinar as principais malformações congênitas pulmonares e os principais métodos diagnósticos utilizados, assim como as indicações de tratamento cirúrgico e os seus resultados em um serviço de referência de cirurgia torácica pediátrica. MÉTODOS: Foram revisados 52 prontuários de pacient [...] es com diagnóstico anatomopatológico de malformações congênitas pulmonares e que foram submetidos à ressecção pulmonar entre janeiro de 1997 e dezembro de 2006. Os critérios de exclusão foram idade > 12 anos e dados clínicos incompletos. A amostra final foi composta de 35 pacientes. RESULTADOS: Nesta amostra, a média de idade foi de 31 meses, com predominância do sexo masculino (n = 21). Os achados anatomopatológicos foram malformação adenomatoide cística (n = 14), enfisema lobar congênito (n = 13), sequestro pulmonar (n = 8), e malformação arteriovenosa (n = 1). A ressecção mais comum foi a lobectomia inferior esquerda (25,71%), seguida por diferentes tipos de segmentectomia (22,85%), lobectomia superior esquerda (22,85%), lobectomia superior direita (14,28%), lobectomia inferior direita (8,57%) e lobectomia média (5,71%). Dos 35 pacientes, 34 (97,14%) foram submetidos à drenagem pleural fechada, com tempo médio de permanência do dreno torácico de 3,9 dias. Dez pacientes (28,5%) apresentaram complicações pós-operatórias. Não houve óbitos nesta série. CONCLUSÕES: A ressecção pulmonar para o tratamento das malformações pulmonares é um procedimento seguro, apresentando baixa morbidade e nenhuma mortalidade em um serviço de referência para doenças pulmonares. Abstract in english OBJECTIVE: To determine the main congenital lung malformations treated and the principal diagnostic methods employed, as well as the indications for surgical treatment and the results obtained, at a referral facility for pediatric thoracic surgery. METHODS: We reviewed the medical charts of 52 patie [...] nts anatomopathologically diagnosed with congenital lung malformations and who had been submitted to pulmonary resection between January of 1997 and December of 2006. Exclusion criteria were age > 12 years and incomplete clinical data. The final sample comprised 35 patients. RESULTS: In this sample, the mean age was 31 months, and there was a predominance of males (n = 21). The anatomopathological findings were cystic adenomatoid malformation (n = 14), congenital lobar emphysema (n = 13), pulmonary sequestration (n = 8) and arteriovenous malformation (n = 1). The most common type of lung resection was left lower lobectomy (in 25.71%) followed by different types of segmentectomy (in 22.85%), left upper lobectomy (in 22.85%), right upper lobectomy (in 14.28%), right lower lobectomy (in 8.57%) and middle lobectomy (in 5.71%). Of the 35 patients, 34 (97.14%) were submitted to closed pleural drainage, with a mean duration of thoracic drainage of 3.9 days. Ten patients (28.5%) presented with postoperative complications. There were no deaths in our sample. CONCLUSIONS: Pulmonary resection for the treatment of congenital lung malformations is a safe procedure, presenting low morbidity and no mortality at a referral facility for pediatric thoracic surgery.

Hylas Paiva da Costa, Ferreira; Gilberto Bueno, Fischer; José Carlos, Felicetti; José de Jesus Peixoto, Camargo; Cristiano Feijó, Andrade.

2010-04-01

208

Tratamento cirúrgico das malformações pulmonares congênitas em pacientes pediátricos Surgical treatment of congenital lung malformations in pediatric patients  

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Full Text Available OBJETIVO: Determinar as principais malformações congênitas pulmonares e os principais métodos diagnósticos utilizados, assim como as indicações de tratamento cirúrgico e os seus resultados em um serviço de referência de cirurgia torácica pediátrica. MÉTODOS: Foram revisados 52 prontuários de pacientes com diagnóstico anatomopatológico de malformações congênitas pulmonares e que foram submetidos à ressecção pulmonar entre janeiro de 1997 e dezembro de 2006. Os critérios de exclusão foram idade > 12 anos e dados clínicos incompletos. A amostra final foi composta de 35 pacientes. RESULTADOS: Nesta amostra, a média de idade foi de 31 meses, com predominância do sexo masculino (n = 21. Os achados anatomopatológicos foram malformação adenomatoide cística (n = 14, enfisema lobar congênito (n = 13, sequestro pulmonar (n = 8, e malformação arteriovenosa (n = 1. A ressecção mais comum foi a lobectomia inferior esquerda (25,71%, seguida por diferentes tipos de segmentectomia (22,85%, lobectomia superior esquerda (22,85%, lobectomia superior direita (14,28%, lobectomia inferior direita (8,57% e lobectomia média (5,71%. Dos 35 pacientes, 34 (97,14% foram submetidos à drenagem pleural fechada, com tempo médio de permanência do dreno torácico de 3,9 dias. Dez pacientes (28,5% apresentaram complicações pós-operatórias. Não houve óbitos nesta série. CONCLUSÕES: A ressecção pulmonar para o tratamento das malformações pulmonares é um procedimento seguro, apresentando baixa morbidade e nenhuma mortalidade em um serviço de referência para doenças pulmonares.OBJECTIVE: To determine the main congenital lung malformations treated and the principal diagnostic methods employed, as well as the indications for surgical treatment and the results obtained, at a referral facility for pediatric thoracic surgery. METHODS: We reviewed the medical charts of 52 patients anatomopathologically diagnosed with congenital lung malformations and who had been submitted to pulmonary resection between January of 1997 and December of 2006. Exclusion criteria were age > 12 years and incomplete clinical data. The final sample comprised 35 patients. RESULTS: In this sample, the mean age was 31 months, and there was a predominance of males (n = 21. The anatomopathological findings were cystic adenomatoid malformation (n = 14, congenital lobar emphysema (n = 13, pulmonary sequestration (n = 8 and arteriovenous malformation (n = 1. The most common type of lung resection was left lower lobectomy (in 25.71% followed by different types of segmentectomy (in 22.85%, left upper lobectomy (in 22.85%, right upper lobectomy (in 14.28%, right lower lobectomy (in 8.57% and middle lobectomy (in 5.71%. Of the 35 patients, 34 (97.14% were submitted to closed pleural drainage, with a mean duration of thoracic drainage of 3.9 days. Ten patients (28.5% presented with postoperative complications. There were no deaths in our sample. CONCLUSIONS: Pulmonary resection for the treatment of congenital lung malformations is a safe procedure, presenting low morbidity and no mortality at a referral facility for pediatric thoracic surgery.

Hylas Paiva da Costa Ferreira

2010-04-01

209

Prevalencia al nacimiento de malformaciones congénitas en hijos de madres adolescentes. Hospital Clínico Universidad de Chile: Período 2002-2011 / Congenital malformations among newborns of teenage mothers  

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Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: The Chilean Ministry of Health has reported a meaningful increase of births from teenager mothers (aged less than 20 years) in the period 1990-2008. On the contrary, there was a decrease of births from teenage mothers at The University of Chile Clinical Hospital (HCUCH). Aim: To compare [...] the prevalence rates at birth of congenital malformations (CMF) in newborns from mothers younger than 20 with those of mothers between 20 and 34 years old. Patients and Methods: The Latin American Collaborative Study of Congenital Malformations (ECLAMC) data base of the HCUCH, since 1969 was analyzed. The last ten years (2002-2011) were studied. Results: There were 15,636 births in the period studied, 153 of them were stillbirths (0.97%). There were 1174 newborns from teenage mothers, 82 of them had one or more congenital malformations (7%). We found an association between smoking and drug consumption in mothers and CMF in their newborns. Conclusions: The rate of congenital malformations among offspring of teenage mothers is lower than the rate for mothers between 20 and 34 years old.

Julio, Nazer H; Lucía, Cifuentes O.

1300-13-01

210

Risk for congenital malformations in offspring of women who have undergone bariatric surgery. A national cohort  

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Objective To study the risk for congenital anomalies in the first child of women after bariatric surgery compared with all other women giving birth to their first child and divided by maternal body mass index (BMI) groups. Design Prospective, population-based register study. Setting Sweden. Sample All firstborn children to women born 1973–83 were studied to determine if they had a congenital anomaly and a mother who had undergone bariatric surgery before pregnancy. Methods A total of 270 8...

Josefsson, Ann; Bladh, Marie; Wirehn, A-b; Sydsjo?, Gunilla

2013-01-01

211

Living fetus without congenital malformation in a singleton partial hydatidiform molar pregnancy: a case report and review of the literature  

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Full Text Available A 36 years old lady gravida 2 para 1, came to our emergency ward at 9:30 pm on 12th June 2010 with complains of bleeding p/v for 2 hours with history of bleeding at 12 weeks. On examination she was anemic and uterus was 32 weeks size with good fetal heart sound. Bleeding was coming through os, on p/s examination. Ultrasonography showed a single live fetus of 1033 grams and thickened placenta (79 mm thickness showing multiple cystic lesion with peripheral hypervascularity, giving an impression of partial hydatidiform mole. She was managed conservatively and delivered a live preterm male child of 960 grams on 13th June 2010 evening without any congenital malformation. Placental weight was 1800 grams with multiple small vesicles. Now the boy is 4 years old and going to school with normal developmental milestone. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1130-1133

Babita Ramani

2014-08-01

212

"Congenital cystic adenomatoid malformation of the lung associated with mediastinal shift "  

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Full Text Available Congenial cystic adenomatoid malformation of the lung (CCAML is a rare lesion and is characterized by a multicystic mass of pulmonary tissue with an abnormal proliferation of bronchial structures. We report a case of CCAML type I presenting with heart displacement that was diagnosed prenatally.

Pourissa M

2001-05-01

213

"Congenital cystic adenomatoid malformation of the lung associated with mediastinal shift "  

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Congenial cystic adenomatoid malformation of the lung (CCAML) is a rare lesion and is characterized by a multicystic mass of pulmonary tissue with an abnormal proliferation of bronchial structures. We report a case of CCAML type I presenting with heart displacement that was diagnosed prenatally.

Pourissa M; Refahi S

2001-01-01

214

Electroencephalography in congenital malformations of the central nervous system / Electroencefalografia en las malformaciones congénitas del sistema nervioso central  

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Full Text Available SciELO Brazil | Language: English Abstract in spanish Estudiamos aspectos clínicos e del EEG de 36 casos de malformaciones congénitas del sistema nervioso central. Los pacientes fueron seguidos en los consultorios externos del Hospital Cayetano Heredia y del Hogar Clínica San Juan de Dios en Lima-Peru, desde enero 1984 hasta junio 1992. Ochenta por cie [...] nto de los pacientes presentaron sindrome convulsivo y retardo mental. La anormalidad mas frecuente correspondió a agenesia de cuerpo calloso y no fue posible identificar un patron EEG "típico". El segundo lugar correspondió a quistes porencefálicos, con buena correlación clínico-EEG. Ademas, hubieron dos casos clínicamente típicos de esquizencefalia, una hemimegalencefalia con buen prognóstico y un caso de holoprosencefalia. Se comparan los resultados con aquellos de casos previamente revisados. Se discuten los dados frente a la literatura acerca de los patrones EEG mas frecuentemente relatados. Se concluye en la utilidad del EEG en países en desarrollo para hacer posible un alto grado de sospecha de una malformación del SNC aun en ausencia de CAT-scan. Abstract in english We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive sy [...] ndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.

Patrícia, Campos; Guillermo, Cruz; Rodolfo, Lizarraga; Ernesto, Bancalari; Daniel, Guillen; Carlos, Castañeda.

1994-12-01

215

Electroencephalography in congenital malformations of the central nervous system Electroencefalografia en las malformaciones congénitas del sistema nervioso central  

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Full Text Available We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.Estudiamos aspectos cl?nicos e del EEG de 36 casos de malformaciones congénitas del sistema nervioso central. Los pacientes fueron seguidos en los consultorios externos del Hospital Cayetano Heredia y del Hogar Clínica San Juan de Dios en Lima-Peru, desde enero 1984 hasta junio 1992. Ochenta por ciento de los pacientes presentaron sindrome convulsivo y retardo mental. La anormalidad mas frecuente correspondió a agenesia de cuerpo calloso y no fue posible identificar un patron EEG "típico". El segundo lugar correspondió a quistes porencefálicos, con buena correlación clínico-EEG. Ademas, hubieron dos casos clínicamente típicos de esquizencefalia, una hemimegalencefalia con buen prognóstico y un caso de holoprosencefalia. Se comparan los resultados con aquellos de casos previamente revisados. Se discuten los dados frente a la literatura acerca de los patrones EEG mas frecuentemente relatados. Se concluye en la utilidad del EEG en países en desarrollo para hacer posible un alto grado de sospecha de una malformación del SNC aun en ausencia de CAT-scan.

Patrícia Campos

1994-12-01

216

MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations  

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The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the he meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

217

MRI of the lumbar spine at 7 Tesla in healthy volunteers and a patient with congenital malformations  

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The aim of this study was to evaluate sequences that are established at lower magnetic field strengths for lumbar spine imaging at 7 Tesla (7 T) MR imaging. The lumbar spine of five healthy volunteers and a patient with spina bifida and meningocele were evaluated at 7 T. The examination included a T2-TSE (turbo spin echo), a 3D-DESS (double-echo steady-state sequence), a 3D-CISS (constructive interference in steady-state sequence), and a 3D-VIBE (volumetric interpolated breath hold examination) sequence. Imaging quality was evaluated by two raters on a three-level scale. The assessment included visualization of intraforaminal structures, the cauda equina, facet joints, and any abnormalities. Contrast ratios for intervertebral discs/vertebral bodies, vertebral bodies/cerebrospinal fluid (CSF) and CSF/spinal cord were calculated. The 3D-VIBE sequence provided best differentiation between intraforaminal structures. Visualization of the facet joints was reliable with VIBE, DESS, and CISS. Individual nerve roots of the cauda equina could only be delineated with the 3D-CISS sequence. CISS and DESS provided good contrast between vertebral bodies and intervertebral discs. Contrast between CSF and vertebral bodies was most pronounced for the T2-TSE sequence. Sufficient contrast between CSF and the spinal cord was only achieved with the T2-TSE sequence. VIBE and DESS sequences demonstrated best the bony malformations. Visualization of the meningocele was only possible with the 3D-CISS sequence. At 7 T most structures of the lumbar spine were visualized with a combination of sequences. At present, imaging quality is not superior to 1.5 T or 3 T, precluding routine clinical use. (orig.)

Grams, Astrid E. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Giessen, Justus Liebig University, Department of Neuroradiology, Giessen (Germany); Kraff, Oliver; Umutlu, Lale; Maderwald, Stefan; Ladd, Mark E.; Forsting, Michael [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Diagnostic and Interventional Radiology and Neuroradiology, Essen (Germany); Dammann, Philipp [University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany); University Hospital Essen, Department of Neurosurgery, Essen (Germany); Gizewski, Elke R. [University Hospital Giessen and Marburg, Campus, Department of Neuroradiology, Giessen (Germany); University Duisburg-Essen, Erwin L. Hahn Institute for Magnetic Resonance Imaging, Essen (Germany)

2012-05-15

218

Massive hematuria due to a congenital renal arteriovenous malformation mimicking a renal pelvis tumor: a case report  

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Full Text Available Abstract Introduction Congenital renal arteriovenous malformations (AVMs are very rare benign lesions. They are more common in women and rarely manifest in elderly people. In some cases they present with massive hematuria. Contemporary treatment consists of transcatheter selective arterial embolization which leads to resolution of the hematuria whilst preserving renal parenchyma. Case presentation A 72-year-old man, who was heavy smoker, presented with massive hematuria and flank pain. CT scan revealed a filling defect caused by a soft tissue mass in the renal pelvis, which initially led to the suspicion of a transitional cell carcinoma (TCC of the upper tract, in view of the patient's age and smoking habits. However a subsequent retrograde study could not depict any filling defect in the renal pelvis. Selective right renal arteriography confirmed the presence of a renal AVM by demonstrating abnormal arterial communication with a vein with early visualization of the venous system. At the same time successful selective transcatheter embolization of the lesion was performed. Conclusion This case highlights the importance of careful diagnostic work-up in the evaluation of upper tract hematuria. In the case presented, a congenital renal AVM proved to be the cause of massive upper tract hematuria and flank pain in spite of the initial evidence indicating the likely diagnosis of a renal pelvis tumor.

Sountoulides P

2008-05-01

219

Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile (1988-1998 Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile  

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Full Text Available Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To study the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

Alfredo Aguila R

2000-02-01

220

Prevalencia de malformaciones congénitas al nacer y factores asociados en Isla de Pascua, Chile (1988-1998) / Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. Aim: To st [...] udy the prevalence of congenital malformations at birth in Easter Island. Material and methods: A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. Results: During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. Conclusions: The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

Alfredo, Aguila R; Julio, Nazer H; Lucía, Cifuentes O; Paola, Mella A; Pedro, de la Barra H; David, Gutiérrez T.

2000-02-01

 
 
 
 
221

Malformación congénita de la vía aérea pulmonar: Reporte de un caso adulto / Congenital pulmonary airway malformation: An adult case report  

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Full Text Available SciELO Chile | Language: Spanish Abstract in spanish La malformación congénita de la vía aérea pulmonar (MCVAP), llamada también malformación congénita adenomatoidea quística que compromete al pulmón es una anomalía embrionaria. La MCVAP es de rara presentación en la infancia y es excepcional en los adultos. En este artículo comunicamos el caso de un [...] hombre adulto con MCVAP y presentamos una breve revisión sobre esta condición. Caso clínico: Hombre de 23 años de edad con varios episodios de neumonía y de síndrome bronquial obstructivo en su niñez. El paciente se quejaba de dolor torácico pleurítico, malestar general y fiebre. En el examen físico se encontró disminución del murmullo pulmonar en la parte inferior del hemitórax derecho, abundantes crepitaciones y matidez. La radiografía y la tomografia computada de tórax (TC) revelaron múltiples imágenes hidro-aéreas complejas en el pulmón derecho. Debido a la falta de respuesta al tratamiento médico, se practicó una lobectomía inferior derecha. La histopatología demostró una MCVAP tipo 1. Después de ser dado de alta el paciente presentó una fístula broncopleural, la cual fue tratada exitosamente con una segunda intervención quirúrgica. Tres años después de la cirugía el paciente está asintomático. Discusión: La MCVAP es una malformación congénita hamartomatosa muy poco frecuente. En adultos es excepcional. La técnica diagnóstica de elección es la TC de tórax. Considerando el alto potencial neoplásico de esta malformación, su tratamiento debe ser la resección quirúrgica, incluso si el paciente está asintomático. Abstract in english Congenital pulmonary airway malformation or CPAM (congenital cystic adenomatoid malformation) that involve the lung is an embryonic anomaly. CPAM is a rare condition in chilhood, and even more so in adulthood. In this article we report the case of a young adult man with CPAM and present a brief revi [...] ew about this condition. Case study: 23 years old man with several episodes of pneumonia and obstructive bronchial syndrome during his childhood. The patient complained of pleuritic chest pain, malaise and fever. On physical examination lung sound was diminished in the lower right zone of the chest, abundant coarse crackles were detected and there was dullness on percussion. Chest roentgenogram and computed tomography (CT) revealed a complex image of multiple cysts with air and fluid in the right lung. Because of the lack of response to medical treatment a right lower lobectomy was performed. Histopathology revealed a type 1 CPAM. After being discharged from the hospital the patient developed a broncho-pleural fistula, that was succesfully treated by a second surgical intervention. Three years after surgery the patient is free of symptoms. Discussion: CPAM is a rare congenital hamartomatous condition. This malformation in adults it is exceptional. Chest CT is the choice diagnostic technique. Considering the high neoplastic potential of this malformation, its treatment should be the surgical resection, even in asymptomatic patients.

CARLOS, ÁLVAREZ Z; CÉSAR, CERDA C; CARMEN, CERDA A; BELÉN, SANHUEZA P.

222

Malformación congénita de la vía aérea pulmonar: Reporte de un caso adulto Congenital pulmonary airway malformation: An adult case report  

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Full Text Available La malformación congénita de la vía aérea pulmonar (MCVAP, llamada también malformación congénita adenomatoidea quística que compromete al pulmón es una anomalía embrionaria. La MCVAP es de rara presentación en la infancia y es excepcional en los adultos. En este artículo comunicamos el caso de un hombre adulto con MCVAP y presentamos una breve revisión sobre esta condición. Caso clínico: Hombre de 23 años de edad con varios episodios de neumonía y de síndrome bronquial obstructivo en su niñez. El paciente se quejaba de dolor torácico pleurítico, malestar general y fiebre. En el examen físico se encontró disminución del murmullo pulmonar en la parte inferior del hemitórax derecho, abundantes crepitaciones y matidez. La radiografía y la tomografia computada de tórax (TC revelaron múltiples imágenes hidro-aéreas complejas en el pulmón derecho. Debido a la falta de respuesta al tratamiento médico, se practicó una lobectomía inferior derecha. La histopatología demostró una MCVAP tipo 1. Después de ser dado de alta el paciente presentó una fístula broncopleural, la cual fue tratada exitosamente con una segunda intervención quirúrgica. Tres años después de la cirugía el paciente está asintomático. Discusión: La MCVAP es una malformación congénita hamartomatosa muy poco frecuente. En adultos es excepcional. La técnica diagnóstica de elección es la TC de tórax. Considerando el alto potencial neoplásico de esta malformación, su tratamiento debe ser la resección quirúrgica, incluso si el paciente está asintomático.Congenital pulmonary airway malformation or CPAM (congenital cystic adenomatoid malformation that involve the lung is an embryonic anomaly. CPAM is a rare condition in chilhood, and even more so in adulthood. In this article we report the case of a young adult man with CPAM and present a brief review about this condition. Case study: 23 years old man with several episodes of pneumonia and obstructive bronchial syndrome during his childhood. The patient complained of pleuritic chest pain, malaise and fever. On physical examination lung sound was diminished in the lower right zone of the chest, abundant coarse crackles were detected and there was dullness on percussion. Chest roentgenogram and computed tomography (CT revealed a complex image of multiple cysts with air and fluid in the right lung. Because of the lack of response to medical treatment a right lower lobectomy was performed. Histopathology revealed a type 1 CPAM. After being discharged from the hospital the patient developed a broncho-pleural fistula, that was succesfully treated by a second surgical intervention. Three years after surgery the patient is free of symptoms. Discussion: CPAM is a rare congenital hamartomatous condition. This malformation in adults it is exceptional. Chest CT is the choice diagnostic technique. Considering the high neoplastic potential of this malformation, its treatment should be the surgical resection, even in asymptomatic patients.

CARLOS ÁLVAREZ Z

2009-01-01

223

Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?  

Science.gov (United States)

We describe a multiple congenital anomalies (MCA) syndrome dominantly transmitted through three generations. Radial ray abnormalities with wide variability of expression were observed in four female patients. Moreover, a 14-week-gestation male fetus had severe radial ray malformation, anencephaly, unilateral renal agenesis, and a common dorsal mesentery. Results of high-resolution karyotyping were normal in the malformed fetus and his affected mother. Furthermore, several spontaneous abortions of male fetuses had occurred in this pedigree. To our knowledge, a similar association has not been described previously. It could represent a new X-linked dominant MCA syndrome, or an autosomal dominant condition with severe expression limited to males. PMID:10706353

Manouvrier, S; Moerman, A; Coeslier, A; Devisme, L; Boute, O; Le Merrer, M

2000-02-28

224

Copy-number disorders are a common cause of congenital kidney malformations.  

Science.gov (United States)

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

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

2012-12-01

225

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

Science.gov (United States)

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

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

226

A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Complex vertebral malformation (CVM and bovine leukocyte adhesion deficiency (BLAD are two autosomal recessive lethal genetic defects frequently occurring in Holstein cattle, identifiable by single nucleotide polymorphisms. The objective of this study is to develop a rapid and reliable genotyping assay to screen the active Holstein sires and determine the carrier frequency of CVM and BLAD in Chinese dairy cattle population. Results We developed real-time PCR-based assays for discrimination of wild-type and defective alleles, so that carriers can be detected. Only one step was required after the DNA extraction from the sample and time consumption was about 2 hours. A total of 587 Chinese Holstein bulls were assayed, and fifty-six CVM-carriers and eight BLAD-carriers were identified, corresponding to heterozygote carrier frequencies of 9.54% and 1.36%, respectively. The pedigree analysis showed that most of the carriers could be traced back to the common ancestry, Osborndale Ivanhoe for BLAD and Pennstate Ivanhoe Star for CVM. Conclusions These results demonstrate that real-time PCR is a simple, rapid and reliable assay for BLAD and CVM defective allele detection. The high frequency of the CVM allele suggests that implementing a routine testing system is necessary to gradually eradicate the deleterious gene from the Chinese Holstein population.

Zhang Yi

2012-07-01

227

Congenital varicella-zoster virus infection. A rare case of severe brain and ocular malformations without limb or cutaneous involvement in a newborn after maternal subclinical infection  

International Nuclear Information System (INIS)

Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic malformation of the left eye, and absence of the right eye globe. Radiological work up revealed severe brain and eye malformations, serological studies of both mother and baby were positive for VZV. The baby underwent palliative surgery to the eyes, upon discharge, a plan of multidisciplinary team was made for follow up including neurologist, ophthalmologist, pediatrician and social worker. Congenital VZV infection can be severe enough to cause catastrophic fetal anomalies and damage to the vital organs as many of those infants die in infancy. (author)

228

Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?  

Digital Repository Infrastructure Vision for European Research (DRIVER)

We report on four children of both sexes from a highly inbred family with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children may also have been affected. The differential diagnosis and the possibility of a second family with the micro syndrome are discussed.???Keywords: autosomal recessive; cataract; consanguinity; mental retardation

Megarbane, A.; Choueiri, R.; Bleik, J.; Mezzina, M.; Caillaud, C.

1999-01-01

229

Pulmonary congenital cystic adenomatoid malformation, type I, presenting as a single cyst of the middle lobe in an adult: case report  

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Abstract Background Congenital cystic adenomatoid malformation (CCAM) of the lung is an uncommon fetal development anomaly of the terminal respiratory structures. The large cyst type usually occurs in stillborn infants or newborn infants with respiratory distress. Cases of CCAM have been previously described in adulthood, more often type I with multiloculated cystic lesions. Case presentation We report a case of type I CCAM presenting as a single, expansive cyst...

Donato Salvatore; Licci Stefano; Piscioli Irene; Morelli Luca; Catalucci Alessia; Del Nonno Franca

2007-01-01

230

Congenital varicella-zoster virus infection. A rare case of severe brain and ocular malformations without limb or cutaneous involvement in a newborn after maternal subclinical infection.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

ABSTRACT Although congenital varicella-zoster virus VZV infection is rare, it carries serious morbidity and mortality to the fetus and newborn infant. We report a full term female newborn infant, born to a multipara unbooked mother who had VZV subclinical infection during the first trimester of pregnancy. Routine newborn examination showed cystic malformation of the left eye, and absence of the right eye globe. Radiological work up revealed severe brain and eye malf...

Al-katawee, Yousef A.; Al-hasoun, Yousef A.; Taha, Mohamed N.; Khalid Al-Moslem

2005-01-01

231

Pesquisaje ultrasonográfico de marcadores genéticos y malformaciones congénitas mayores / Ultrasonographic Screening of Genetic Markers and Serious Congenital Malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Introducción: la determinación del valor predictivo de los marcadores genéticos es de vital importancia; ya que la presencia de varios marcadores en etapas tempranas de la gestación es un indicador de la presencia o no de aneuploidias. Objetivo: elevar la calidad del diagnóstico prenatal desde las p [...] rimeras semanas del embarazo. Método: se realizó un estudio descriptivo de serie de casos donde se incluyeron a todas las embarazadas del Policlínico Docente Comunitario José Martí Pérez. El muestreo fue no probabilístico; se realizó un estudio ecográfico en el primer y segundo trimestre; las anomalías detectadas por ultrasonido y los diagnósticos anatomopatológicos fueron clasificados de acuerdo con la estructura anatómica mayor afectada. La comparación de sus resultados permitió corroborar el diagnóstico preliminar. Se realizó análisis estadístico descriptivo y los resultados se expresaron en porcentajes y tablas. Resultados: se tomaron en cuenta según su significado clínico o no los resultados de los marcadores genéticos registrados; los de mayores incidencias fueron la visualización de estructuras colectoras y la imagen de ping pong ball, la presencia de varios marcadores se asoció a malformaciones congénitas mayores. El mayor número de alteraciones se detectaron entre 20 y 34 años. Conclusiones: el pesquisaje de marcadores genéticos eleva la calidad del diagnóstico prenatal, ya que aparecen tempranamente y están relacionados o no con alteraciones cromosómicas u otras malformaciones congénitas mayores. Abstract in english Introduction: the determination of the predictive value of genetic markers is of vital importance; because the presence of several markers in early stages of gestation is an indicator of the presence or not of aneuploidy. Objective: to improve the quality of prenatal diagnosis from the first weeks o [...] f pregnancy. Method: a descriptive retrospective study was carried out where all pregnant women who have undergone the ultrasonographic study during the 1st and 2nd trimester were included. Non probabilistic sampling was used. Anomalies detected by ultrasonography and pathoanatomical diagnosis were classified according to the most affected anatomical structure. Comparison of their results corroborated the preliminary diagnosis. Descriptive statistical analysis was performed and results were expressed in percentages and tables. Results: results of registered genetic markers were taken into account according to its clinical meaning or not; those of more incidences were the visualization of collector structures and the ping pong ball image, the presence of several markers associated with serious congenital malformations; the biggest number of alterations was detected between 20 and 34 years. Conclusions: the screening of genetic markers increases the quality of prenatal diagnosis, because of their early appearance and they are related or not with chromosomal alterations or other serious congenital malformations.

Filiberto, Miranda Rosales; Cynara, Mirón Folgoso; Arnaldo, Balaguer Burón; Eida, Iglesias Vidal; Idalmís, Pérez Gonzáles; Deborah, Cento Pernas.

2012-06-01

232

Congenital skeletal malformations induced by maternal ingestion of Conium maculatum (poison hemlock) in newborn pigs.  

Science.gov (United States)

Skeletal malformations were induced in newborn pigs from gilts fed Conium maculatum seed or plant during gestation days 43 through 53 and 51 through 61. The teratogenic effects in groups dosed during gestation days 43 through 53 were more severe than those in groups dosed during the later period, with many newborn pigs showing arthrogryposis and twisted and malaligned bones in the limbs and with 1 pig showing scoliosis and deformity of the thoracic cage. The pigs born to gilts given C maculatum during gestation days 51 through 61 had excessive flexure primarily in the carpal joints, without scoliosis or bone malalignment in the limbs. The teratogenicity of poison hemlock depends on the alkaloid concentration and content. Based on the data presented, we speculate that gamma-coniceine is the teratogenic alkaloid in the poison hemlock fed to the gilts. PMID:4062008

Panter, K E; Keeler, R F; Buck, W B

1985-10-01

233

The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association  

Energy Technology Data Exchange (ETDEWEB)

For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns one year at least. Ozyorsk is located near the large-scale nuclear complex Mayak which became operational in the Southern Ural in 1948. The aim of our follow-up is to study prevalence of CMs detected at birth or during the first year of life among the children born in the city of Ozyorsk in 1974-1988. This cohort was chosen for study, because medical records on children of this birth years are well preserved and the most complete information for these years might be obtained. (Author) 17 refs.

Petrushkina, N. P.; Koshurnikova, N. A.; Okatenko, P. V.

2004-07-01

234

The prevalence at birth of congenital malformations in the city of Ozyorsk located near the nuclear complex Mayak production association  

International Nuclear Information System (INIS)

For many years possible genetic effects of exposure to ionizing radiation have been a subject of interest and concern, but data from studies of the risk of radiation-induced hereditary effects in humans are limited. the most extensive human studies of genetic effects were those conducted on the Japanese. A-bomb survivors. In These studies in investigators examined the association of various levels of radiation exposure and several different endpoints, including major congenital defects, stillbirth, death during the first week of life, survivals, and sex ratio and Down's syndrome (8, (14-16). Although associations of these outcomes with radiation exposure were in the positive direction, none were close to statistical significance. Only teratogenic effects of in utero exposure at Hiroshima and Nagasaki, microcephaly and mental retardation, have been observed (8, (10, 16)). Of most interest is possible association of congenital malformations (CMs) with parental occupational radiation exposure. Determination of the role of parental occupational exposure in induction of CMs in children is necessary to evaluate reliability of radiation protection standards Epidemiological studies conducted on the basis of Registries of children who were born in regions located near a nuclear complex may be useful for such evaluation. It is preferable to carry out such studies on the basis of population registries, since long follow-up in large populations allows to reveal increased frequencations allows to reveal increased frequency of even very rare forms of congenital abnormalities. In a case-control study of association of parental occupational exposure due to Hanford Nuclear Site and risk of CMs in their offspring there was no evidence of such an association (12, 13). Our investigation is conducted on the basis of the basis of the Registry of children of Ozyorsk. The whole Registry includes all children with 1948-1988 birth years show were born or-came to town at the age of 0-14 years, and were residents of these towns one year at least. Ozyorsk is located near the large-scale nuclear complex Mayak which became operational in the Southern Ural in 1948. The aim of our follow-up is to study prevalence of CMs detected at birth or during the first year of life among the children born in the city of Ozyorsk in 1974-1988. This cohort was chosen for study, because medical records on children of this birth years are well preserved and the most complete information for these years might be obtained. (Author) 17 refs

235

Fetal Bronchoscopy as a Useful Procedure in a Case with Prenatal Diagnosis of Congenital Microcystic Adenomatoid Malformation.  

Science.gov (United States)

Massive microcystic congenital cystic adenomatoid malformation (CCAM) and bronchial atresia are associated with a high perinatal mortality secondary to lung hypoplasia and cardiac dysfunction, and fetal intervention should be considered to improve prognosis. Therapeutic options include open fetal surgery with pulmonary resection, fetal sclerotherapy and fetoscopy. We present a case with a severely enlarged left lung without ultrasound signs of dilated airways compatible with the diagnosis of microcystic CCAM, hydrops and severe contralateral lung hypoplasia that was treated successfully at 30 weeks of gestation by fetal bronchoscopy, through which bronchial atresia was identified at the end of the left mainstem bronchi and permeabilized by laser ablation. After fetal surgery, weekly follow-up showed a progressive decrease in the affected lung size and an increase in the contralateral hypoplastic lung size, demonstrating normal dimensions of both lungs at 34 weeks of gestation, reversal of the mediastinal shift, and complete disappearance of hydrops. A healthy neonate was delivered uneventfully at term with no need for respiratory support, and the boy is now doing well at 15 months of age. This report demonstrates that in cases with prenatal diagnosis of large microcystic CCAM, fetal bronchoscopy can be used to refine the diagnosis of bronchial atresia and as a therapeutic tool with good outcome. © 2014 S. Karger AG, Basel. PMID:25138479

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

2014-08-14

236

Antenatal and postnatal management of congenital cystic adenomatoid lung malformation diagnosed by ultrasound and Magnetic Resonance Imaging (MRI  

Directory of Open Access Journals (Sweden)

Full Text Available Purpose: Antenatal diagnosis of congenital cystic adenomatoid lung malformation (CCAM is vital for disease surveillance and postnatal care. Ultrasonography (US has been the imaging gold standard for antenatal CCAM assessment. However, one of the limitations of US is the “vanishing phenomenon” caused by isoechogenicity of CCAM tissue and adjacent normal lung parenchyma. Methods: Antenatal serial US were concurrently used with magnetic resonance imaging (MRI to monitor macro- and microcystic lesions. Results: In both pregnant women, antenatal US and MRI confirmed the presence, in the fetus, of cystic lesions and predicted disease regression/progression as well as the need for postnatal surgical intervention. Several advantages were detected by using both—serial US and MRI (over serial US alone—including improved signal intensity, exact volume size measurements, precise CCAM location in particular for patients with adverse ultrasound conditions. Both neonates underwent surgical resection and had an uneventful post-operative course. Conclusions: Antenatal use of MRI as well as serial US improved information regarding tissue resolution and delineation of CCAM. The information from two imaging modalities was complementary. Our literature review confirmed the emerging role of prenatal MRI for postnatal monitoring and management of CCAM.

Susanne E. Gruessner

2012-11-01

237

Prevalencia al nacimiento de malformaciones congénitas en las maternidades chilenas participantes en el ECLAMC en el período 2001-2010 / Prevalence of congenital malformations at birth in chilean maternity hospitals  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: The Latin American Collaborative Study of Congenital Malformations (ECLAMC) is an epidemiological surveillance system operating in 11 South American countries since 1969. Aim: To analyze the Congenital Malformation prevalence rate at birth from 2001 to 2010 in Chilean Hospitals participa [...] ting in ECLAMC. To compare these rates with those of the period 1982-1994. Material and Methods: Review of the ECLAMC database, which contains information about 282.568 newborns, 2.110 of them stillbirths (0.75%) from 13 Maternity hospitals. Results: In the study period, 10.925 newborns had congenital malformations (3.9 %). Their frequency was lower in live newborns than stillbirths (3.8 and 15.3%, respectively). Compared with the 1982-1994 period, congenital malformation prevalence rates at birth were higher. They stabilized in approximately 4 %, from 1985 to 2010. The prevalence of some anomalies such as Down syndrome increased significantly. On the other hand, there was a reduction in the prevalence of spina bifida and anencephaly. Conclusions: Prevalence rates of congenital malformations at birth remained stable in the last 18 years in Chilean Hospitals participating in ECLAMC. However the prevalence of some malformations such as Down syndrome, Polydactyly, anotia-microtia, syndactyly and cleft palate have increased. The prevalence rates of spina bifida and anencephaly have decreased.

Julio, Nazer H; Lucía, Cifuentes O.

1150-11-01

238

Diagnóstico ultrasonográfico de malformaciones congénitas: Nuestra experiencia en el período 1983-1995 Ultrasonographic diagnosis of congenital malformations: Our experiences in the period 1983-1995  

Directory of Open Access Journals (Sweden)

Full Text Available Se hizo un resumen del trabajo realizado durante 13 años con ecografía bidimensional en el Departamento de ultrasonido de nuestro hospital, motivados por la importancia de la detección intraútero, cada vez más precoz, de las malformaciones congénitas, con el propósito de demostrar el valor de la ecografía bidimensional para el diagnóstico de éstas. Revisamos los expedientes clínicos de las pacientes con malformaciones diagnosticadas y analizamos variables como: positividad del diagnóstico, principales tipos de malformaciones encontradas, así como las causas de los errores cometidos. Entre los principales resultados obtenidos tenemos que de los 73 866 exámenes realizados, encontramos 147 malformaciones, o sea, una malformación por cada 502,4 estudios realizados, lo que arroja un promedio anual de 11,3 malformaciones. Entre las malformaciones más frecuentemente diagnosticadas encontramos los del sistema nervioso central, siguiéndoles las renales, cardíacas, digestivas y otras. Concluimos señalando que a pesar de las novedosas técnicas aparecidas últimamente, la ecografía bidimensional sigue siendo, en manos expertas, un medio ideal, relativamente barato o inocuo para el diagnóstico de las malformaciones congénitas.It was made a summary of the work carried out during 13 years with bidimensional echography at the Ultrasound Department of our hospital, motivated by the importance of detecting intrauterus, increasingly early, and congenital malformations aimed at demonstrating the value of bidemensional echography for their diagnosis. The medical histories of the patients with diagnosed malformations were reviewed and variables such as the positivity of the diagnosis and the main types of malformations found were analyzed. The causes of the mistakes made were also examined. Among the principal results obtained it was found that of the 73 866 examinations made 147 were malformations, that is, a malformation per every 502.4 conducted studies. The annual average was of 11.3 malformations. One of the most frequently diagnosed malformations was that of the central nervous system, followed by the renal, cardiac, digestive and others. It is concluded that in spite of the appearance of new techniques, the bidemensional echography is still, in expert hands, a relatively cheap or innocuous ideal means for the diagnosis of congenital malformations.

Miguel Pérez Ramírez

1997-06-01

239

Paternal age and congenital malformations in offspring in California, 1989-2002.  

Science.gov (United States)

This study examined the association between paternal age and a wide range of structural birth defects. Data were drawn from The California Birth Defects Monitoring Program, a population-based active surveillance system for collecting information on infants and fetuses with defects born between 1989 and 2002. The analysis included 46,114 cases with defects, plus a random sample of 36,838 non-malformed births. After adjustment for maternal age, risks of anomalies of the nervous system for 38 and 42 year-old fathers, as compared to 29 year-old fathers, were 1.05-fold [1.00, 1.11] and 1.10-fold [1.02, 1.18] higher, respectively. Similar results were observed for anomalies of the limbs, where 38 and 42 year-old fathers had a 1.06-fold [1.02, 1.11] and 1.11-fold [1.05, 1.18] higher risk, respectively. Risks of anomalies of the integument were 1.05-fold [1.00, 1.09] and 1.10-fold [1.03, 1.16] higher for 38 and 42 year olds, respectively. Young paternal age, i.e., less than 29 years, was associated with an increased risk of amniotic bands (OR: 0.87 [0.78, 0.97]), pyloric stenosis (OR: 0.93 [0.90, 0.96]) and anomalies of the great veins (OR: 0.93 [0.87, 1.00]). In sum, both advanced and young paternal age was associated with select birth defects in California between 1989 and 2002. PMID:21344170

Grewal, Jagteshwar; Carmichael, Suzan L; Yang, Wei; Shaw, Gary M

2012-02-01

240

My personal evolution of caring for patients with congenital cleft malformations: a joyous, but humbling career.  

Science.gov (United States)

The evaluation and treatment of patients with congenital orofacial clefting is a challenging task. Successful treatment requires a concerted effort by the cleft surgeon and cleft team to maximize the appearance and function of the cleft patient. To become a competent cleft surgeon, a facial plastic surgeon must be dedicated to a lifelong pursuit of technical excellence through continual evaluation, self-criticism, and improvement of surgical techniques and approaches. The contemporary cleft surgeon must integrate the knowledge gained by mentors that have years of expert experience and evidence-based information demonstrated by careful study. This information should help guide the young cleft surgeon as experience is gained and expertise developed through years of careful observation and evaluation of patients. This article is a discussion of the art and science of cleft surgery. It outlines the timetable associated with cleft repairs, the resources necessary to provide superior cleft care, and exposes the weaknesses and frailties of all cleft surgeons. It is designed to aid cleft surgeons in their pursuit of perfection. PMID:24810129

Sykes, Jonathan M; Nolen, David

2014-04-01

 
 
 
 
241

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.  

Science.gov (United States)

Purpose:Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two.Methods:We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence- and structure-based predictions and/or functional assays.Results:We identified eight probands with CHH with (n = 3; Kallmann syndrome) or without anosmia (n = 5) and SHFM, seven of whom (88%) harbor FGFR1 mutations. Of these seven, one individual is homozygous for p.V429E and six individuals are heterozygous for p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, or p.L712P. All mutations were predicted by in silico analysis to cause loss of function. Probands with FGFR1 mutations have severe gonadotropin-releasing hormone deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was observed only in the patient with the homozygous p.V429E mutation; V429 maps to the fibroblast growth factor receptor substrate 2? binding domain of FGFR1, and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of fibroblast growth factor receptor substrate 2? to FGFR1, thereby resulting in reduced mitogen-activated protein kinase signaling.Conclusion:FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10% in the general CHH population to 88% in these patients.Genet Med advance online publication 13 November 2014Genetics in Medicine (2014); doi:10.1038/gim.2014.166. PMID:25394172

Villanueva, Carine; Jacobson-Dickman, Elka; Xu, Cheng; Manouvrier, Sylvie; Dwyer, Andrew A; Sykiotis, Gerasimos P; Beenken, Andrew; Liu, Yang; Tommiska, Johanna; Hu, Youli; Tiosano, Dov; Gerard, Marion; Leger, Juliane; Drouin-Garraud, Valérie; Lefebvre, Hervé; Polak, Michel; Carel, Jean-Claude; Phan-Hug, Franziska; Hauschild, Michael; Plummer, Lacey; Rey, Jean-Pierre; Raivio, Taneli; Bouloux, Pierre; Sidis, Yisrael; Mohammadi, Moosa; de Roux, Nicolas; Pitteloud, Nelly

2014-11-13

242

Congenital malformations in Rio de Janeiro, Brazil: prevalence and associated factors Malformações congênitas no Município do Rio de Janeiro, Brasil: prevalência e fatores associados a sua ocorrência  

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Full Text Available This study aims to estimate the prevalence of congenital malformations and their correlation with socioeconomic and maternal variables. The design was cross-sectional, based on a sample of 9,386 postpartum women after admission for childbirth in maternity hospitals in the city of Rio de Janeiro, Brazil. Data were collected through interviews with mothers in the immediate postpartum, as well as by consulting the patient records of both the mothers and newborn infants. Prevalence of congenital malformations at birth was 1.7%, and minor malformations were the most frequent. Neural tube defects were the most frequent major malformations. According to multivariate analysis, congenital malformations were statistically associated with: maternity hospitals belonging to or outsourced by the Unified National Health System (SUS and inadequate prenatal care (¾ 3 visits. This study highlights the importance of measures for health promotion and disease prevention in childbearing-age women, with special attention to prenatal care and childbirth, which can directly influence neonatal indicators and prevention of birth defects.Este trabalho tem como objetivo estimar a prevalência ao nascimento das malformações congênitas e sua associação com escolaridade e outras características maternas. Trata-se de um estudo seccional, a partir de uma amostra de 9.386 puérperas hospitalizadas em maternidades do Município do Rio de Janeiro, Brasil, no momento do parto, no período de 1999 a 2001. Os dados foram coletados através de entrevistas com as mães, no pós-parto imediato, assim como consulta aos prontuários das puérperas e dos recém-nascidos. A prevalência ao nascimento de malformação congênita foi de 1,7% e as malformações menores foram as mais freqüentes (polidactilia e pé torto congênito. Os defeitos de fechamento do tubo neural foram as principais anomalias maiores detectadas. Na análise multivariada, a anomalia congênita esteve associada à maternidade ser pública ou conveniada com o SUS e receber inadequada assistência pré-natal (até três consultas. Ressalta-se neste estudo a importância de ações de promoção da saúde e prevenção de agravos a mulheres em idade fértil, com atenção especial para o atendimento ao pré-natal e ao parto, que podem repercutir diretamente nos indicadores infantis e na prevenção das anomalias congênitas.

Cláudia Maria da Silva Costa

2006-11-01

243

Congenital scoliosis  

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Congenital scoliosis is the most frequent congenital deformity of the spine. Congenital curvatures are due to anomalous development of the vertebrae (failure of formation and/or segmentation). Congenital scoliosis is believed to be related to an insult to the fetus during spine embryological development, and associated malformations (heart, spinal cord, kidney...) are frequently observed. A perfect understanding of the natural history of the deformity and the treatment principles will allow b...

Langmead, Frederick

2003-01-01

244

Diagnóstico prenatal y atención de las malformaciones congénitas y otras enfermedades genéticas Prenatal diagnosis and medical care of congenital malformations and other genetic diseases.  

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Full Text Available Se realizó un estudio longitudinal, prospectivo y descriptivo en la provincia de Pinar del Río, en el año 1998, para contribuir al conocimiento de las malformaciones congénitas y las enfermedades genéticas. Se estudiaron 128 gestantes cuyos fetos tenían diagnóstico de 1 o más malformaciones congénitas o enfermedad genética, de ellas, 108 solicitaron interrupción del embarazo y las malformaciones más frecuentes fueron: las cardiovasculares (29,69 %, los defectos del tubo neural (17,97 % y las renales (14,84 %. Se observó que la región occidental tuvo la mayor tasa de malformaciones detectadas por 1 000 nacimientos (16,80, por encima de la tasa provincial (11,82 y que la edad gestacional promedio al momento del diagnóstico prenatal fue de 21,79 sem (DE = =3,99. Hubo un 6,54 y un 1,87 % de complicaciones maternas en el aborto-parto y en el puerperio, respectivamente. En las 20 embarazadas que decidieron no interrumpirse el embarazo, hubo evolutivamente 25 % de muertes fetales tardías, 10 % de muertes neonatales precoces, 5 % de muertes neonatales tardías y posneonatales y 55 % de niños vivos al año de edad (n = 11, aunque todos con malformaciones y diferentes grados de afectación. Se obtuvo el 99,03 % de confirmación del diagnóstico prenatal.A longitudinal, prospective and descriptive study of congenital malformations and genetic diseases was made in Pinar del Rio province in 1998. One-hundred and twenty eight pregnant women whose fetuses had been diagnosed with one or more congenital malformations or genetic diseases were studied. One hundred and eight of them asked for the termination of their pregnancies and the most frequent malformations were: cardiovascular (29,69%, neural tube defects (17,97% and renal malformations (14,84%. It was observed that the Western region showed the highest rate of malformations detected per 1000 births (16,80, even higher than the provincial rate (11,82 and that the average gestational age at the moment of the prenatal diagnosis was 21.79 weeks (DE=3,99. The maternal complications reached 6,54% and 1,87% in the abortion-delivery and the puerperium respectively. In the 20 pregnant women who decided not to terminate their pregnancies, there were 25% of late fetal deaths; 10% of early neonatal deaths, 5% of late neonatal deaths and 55% of live infants at 1 year of age (n=11, although all of them presented with malformations and different levels of impact. The prenatal diagnosis was confirmed in 99,03%.

Manuel Piloto Morejón

2001-12-01

245

Contracted foal syndrome associated with multiple malformations in two foals.  

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

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

2014-02-01

246

CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder  

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A newborn girl was found to have a massive lymphatic truncal vascular malformation with overlying cutaneous venous anomaly associated with overgrown feet and splayed toes. These manifestations comprise the recently described CLOVE syndrome. She also had cranial asymmetry and developed generalized seizures, which were treated with anticonvulsants. Cranial CT showed encephalomalacia, widening of the ventricles and the sulci, hemimegalencephaly (predominantly white matter) and partial agenesis o...

Gucev, Zoran S.; Tasic, Velibor; Jancevska, Aleksandra; Konstantinova, Marina Krstevska; Pop-jordanova, Nada; Trajkovski, Zoran; Biesecker, Leslie G.

2008-01-01

247

Transtornos mentais maternos graves e risco de malformação congênita do bebê: uma metanálise Severe mental illness in mothers and congenital malformations in newborns: a meta-analysis  

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Full Text Available O risco de ter malformações parece ser maior em bebês de mães com transtornos mentais em comparação com bebês de mães sem histórico de transtornos psiquiátricos. O objetivo deste artigo foi realizar uma metanálise dos estudos sobre a associação entre transtornos mentais maternos e malformações congênitas. A revisão consistiu na busca de artigos nas bases MEDLINE, ISIWEB, Scopus, LILACS e SciELO, utilizando-se os descritores: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". Foram localizados 108 estudos, sendo selecionados cinco artigos de acordo com os critérios estabelecidos. Estes artigos foram incluídos na metanálise, envolvendo um total de 4.194 crianças de mães com transtornos mentais e 249.548 crianças de mães sem tais transtornos. A medida combinada revelou associação significativa entre exposição a transtornos mentais maternos e risco de malformações (RR = 2,06, IC95%: 1,46-2,67. O presente estudo evidencia a relação entre saúde mental materna durante a gravidez e suas repercussões na saúde do bebê.The risk of congenital malformations appears to be higher in infants of mothers with mental disorders as compared to those of mothers with no history of psychiatric illness. This article presents a meta-analysis of studies on the association between maternal mental illness and congenital malformations. The review consisted of an article search in the MEDLINE, ISIWEB, Scopus, and SciELO databases, using the following key words: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". A total of 108 studies were identified, and five articles were selected according to the established criteria. These articles were included in a meta-analysis, involving a total of 4,194 children of mothers with mental illness and 249,548 children of mothers with no such disorders. Pooled relative risk showed a significant association between exposure to mental illness in mothers and risk of malformations in newborns (RR = 2.06, 95%CI: 1.46-2.67. The study highlights the relationship between maternal mental health during pregnancy and its effects on the infant's health.

Priscila Krauss Pereira

2011-12-01

248

Aortic arch malformations  

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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.)

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

2010-06-15

249

CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder  

Science.gov (United States)

A newborn girl was found to have a massive lymphatic truncal vascular malformation with overlying cutaneous venous anomaly associated with overgrown feet and splayed toes. These manifestations comprise the recently described CLOVE syndrome. She also had cranial asymmetry and developed generalized seizures, which were treated with anticonvulsants. Cranial CT showed encephalomalacia, widening of the ventricles and the sulci, hemimegalencephaly (predominantly white matter) and partial agenesis of corpus callosum. Review of the literature identified several other patients with CLOVE syndrome, some of whom were misdiagnosed as having Proteus syndrome, with strikingly similar manifestations. We conclude that CNS manifestations including hemimegalencephaly, dysgenesis of the corpus callosum, neuronal migration defects, and the consequent seizures, may be a more common manifestation of CLOVE syndrome than is presently appreciated. PMID:18816642

Gucev, Zoran S.; Tasic, Velibor; Jancevska, Aleksandra; Konstantinova, Marina Krstevska; Pop-Jordanova, Nada; Trajkovski, Zoran; Biesecker, Leslie G.

2010-01-01

250

Diferenciales de mortalidad infantil por malformaciones congénitas con datos pareados: Chile (1993-1995) / Infant mortality differentials from congenital malformations with linked records: Chile (1993-1995)  

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Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: The analysis of infant mortality from congenital malformations, which at present is the main group of causes of this mortality in Chile, suggests that it could be decreased with a good knowledge of its conditioning factors. Aim: To study infant mortality differentials from congenital mal [...] formations with linked records, in the 1993 to 1995 Chilean birth cohorts. Material and methods: Analysis of mortality differentials in 1993,1994 and 1995 birth cohorts. Multivariate logistic regression of mortality from congenital diseases. Results: Univariate analysis showed that mortality is highest in the Southern regions of the country (VII to XII) and in rural areas. It is also higher in children from older and from very young mothers, it increases along with the birth order of the child and decreases with increasing educational level of the mother. Multiple logistic regression analysis, confirmed the higher mortality in the Southern regions, aged mothers, high birth order of the child and low educational level of the mother. However no significant influence of rurality nor greater mortality in children of very young mothers was found. Conclusions: These results can be attributed to the fact that this type of analysis permits the control with other variables. Although the mortality data showed interesting relationships with the independent variables, a registry of all live births and stillbirths with congenital anomalies, that would provide greater numbers and data on non fatal anomalies, would be desirable to better study their causal factors. (Rev Méd Chile 2001; 129: 405-12)

Erica, Taucher S; Gloria, Icaza N.

2001-04-01

251

Malformaciones del sistema nervioso central en el Hospital Clínico de la Universidad de Chile y maternidades chilenas participantes en el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC) / Central nervous system malformations in Chilean hospitals participating in the Latin American Collaborative Study of congenital Malformations (ECLAMC)  

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Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: In Chile, the rates of central nervous system congenital malformations at birth remain high, when compared with the rest of the world. Aim: To report the rates of central nervous system congenital malformations in Chilean hospitals. Material and methods: Using the ECLAMC protocol, every [...] malformed newborn or stillbirth, weighing more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. Results: The rates of central nervous system congenital malformations are higher at the University of Chile Clinical Hospital than in the rest of Chilean hospitals or Latin American Hospitals. There are significantly higher rates of anencephalia in Concepcion and spina bifida in Valdivia, Rancagua and Concepcion. In the University of Chile Clinical Hospital, global annual rates have a negative slope of -0.0259 per 1000 born alive, with a correlation coefficient of -0.125 (p

Julio, Nazer H; Lucía, Cifuentes O; Mariela, Rodríguez C; Mildred, Rojas N.

1163-11-01

252

Frequency and structure of congenital malformations of development as markers of teratogen and mutagen radiation effects in a populations of a diverse radiation risk  

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The principal task of this study is consideration of possible mutagenic and teratogenic effects of ionizing radiation on the dynamics, frequency and structure of congenital malformations of development (CMD) of newborns in rural populations of a diverse radiation risk. Analysis of dynamics of CMD spatial-temporal performances reveals the steady temporal trend to their growth in the posterity of irradiated persons and territorial build up of CMD frequency in populations geographically close to the Semipalatinsk test site. It is determined the high correlation frequency relation of CMD separate forms with population effective radiation dose (r=0.72-0.81) and considerable exposure of main population-genetic indexes (r=0.52-0.89). It is revealed population mutagenic and teratogenic effects of prolonged ionizing radiation effect on the frequency of germinal chromosomal and genome mutation in population of extremely high and maximal radiation risk

253

Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético / Analysis of the congenital malformations detected by the alpha-fetoprotein-genetic ultrasound program  

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Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish La alfafetoproteína es una glicoproteína específica del plasma fetal, cuya determinación en suero materno se realiza entre las 15 y 19 semanas de gestación. Para conocer el comportamiento del programa alfafetoproteína-ultrasonido genético en el municipio 10 de Octubre se realizó esta investigación. [...] En ella se encontró que 862 gestantes presentaron alfafetoproteína elevada en suero materno en el período analizado, y las principales causas encontradas dependientes de la madre fueron: el error en la fecha de última menstruación, seguida de la amenaza de aborto; y las malformaciones congénitas más frecuentemente encontradas fueron los defectos de cierre del tubo neural, seguidos de las malformaciones cardiovasculares. Abstract in english The alpha-fetoprotein is a specific glycoprotein of the fetal plasma, whose determination in maternal serum is performed from the 15th to the 19th week of gestation. This research was conducted to know the behavior of the alpha-fetoprotein-genetic ultrasound program in “10 de Octubre” municipality. [...] It was found that 108 pregnant women presented elevated alpha-fetoprotein in maternal serum during the analyzed period. The main causes depending on the mother were: error in the date of the last menstruation and threatened abortion. The most frequent congenital malformations were the defects of the neural tube closure, and the cardiovascular malformations.

Aicha Julia, Llamos Paneque; Arianne, Llamos Paneque; Alicia, Martínez de Santelises Cuervo; Zaymar L., Powell Castro; Eldys, Pérez Olivera.

2007-03-01

254

Pulmonary congenital cystic adenomatoid malformation, type I, presenting as a single cyst of the middle lobe in an adult: case report  

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Full Text Available Abstract Background Congenital cystic adenomatoid malformation (CCAM of the lung is an uncommon fetal development anomaly of the terminal respiratory structures. The large cyst type usually occurs in stillborn infants or newborn infants with respiratory distress. Cases of CCAM have been previously described in adulthood, more often type I with multiloculated cystic lesions. Case presentation We report a case of type I CCAM presenting as a single, expansive cystic mass in the middle pulmonary lobe in a 38-year-old man, revealed by persistent cough and haemoptysis. Computed tomographic scan showed a single cyst with air fluid level, occupying the lateral segment of the lobe. When the type I CCAM is a single cyst, other cystic pulmonary lesions must be excluded. The intrapulmonary localization and the absence of cartilage in the cyst wall are conclusive findings of CCAM. The pathogenesis, management and differential diagnosis with other lung malformations are discussed along with a review of the literature. Conclusion The literature data confirm that surgical resection is the treatment of choice in all cases of CCAM and in the cases of cystic pulmonary lesions with uncertain radiological findings, in order to perform a histological examination of the lesion and to prevent infection and the potential neoplastic transformation.

Donato Salvatore

2007-06-01

255

A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations  

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The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly. (orig.)

256

Associated malformations in patients with limb reduction deficiencies.  

Science.gov (United States)

Infants with limb reduction deficiencies (LRD) often have other associated congenital malformations. The purpose of this investigation was to assess the prevalence and the types of associated malformations in a defined population. This study included special strengths: each affected child was examined by a geneticist, all elective terminations were ascertained, and the surveillance for malformations was continued until 1 year of age. The associated malformations in infants with LRD were collected in all livebirths, stillbirths and terminations of pregnancy during 25 years in 347,810 consecutive births in the area covered by our population based registry of congenital malformations. Of the 271 LRD infants born during this period, representing a prevalence of 7.8 per 10,000, 57.9% had associated malformations. There were 17(6.3%) patients with chromosomal abnormalities including 10 trisomies 18, and 62 (22.9%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VA(C)TER(L) association. However numerous recognized dysmorphic conditions were registered including Poland, ectrodactyly-ectodermal dysplasia-clefting, oral-facial-digital, Klippel-Trenaunay-Weber, oculo-auriculo-vertebral defect spectrum, CHARGE, Townes-Brocks, Moebius, Du Pan, Smith-Lemli-Opitz, hypoglossia-hypodactyly, amniotic band, De Lange, Rubinstein-Taybi, Fanconi, radius aplasia- thrombocytopenia, Roberts, Holt-Oram, and fetal diethylstilbestrol. Seventy eight (28.8%) of the patients were multiply, non-syndromic, non chromosomal malformed infants (MCA). Malformations in the cardiac system, in the genital system, and in the central nervous system were the most common other malformations, 11.4%, 9.4%, and 7.7% of the associated malformations, respectively, followed by malformations in the renal system (4.8%), and in the digestive system (4.6%). Prenatal diagnosis was performed in 48.4% of dysmorphic syndromes with LRD. The overall prevalence of associated malformations, which was more than one in two infants, emphasizes the need for a thorough investigation of infants with LRD.A routine screening for other malformations especially cardiovascular system, urogenital system, central nervous system, and digestive system may be considered in infants and in fetuses with LRD. PMID:20670696

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

2010-01-01

257

Amplificação por condução óssea em malformações congênitas: benefício e satisfação / Amplification by bone conduction in congenital malformations: patient benefits and satisfaction  

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Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese A deficiência auditiva é um dos achados clínicos mais comuns em sujeitos com malformações de orelha. O tratamento consiste em realizar a cirurgia e/ou adaptar o aparelho de amplificação sonora por via óssea (AASI VO). A intervenção precoce é fundamental para favorecer a estimulação auditiva e desenv [...] olvimento da fala e linguagem. OBJETIVO: Caracterizar o perfil audiológico de sujeitos com malformação congênita de orelha externa e/ou média e avaliar o benefício e a satisfação destes com o uso de AASI VO. MÉTODO: Estudo descritivo, sujeitos com malformações congênitas bilaterais de orelha externa e/ou média, deficiência auditiva condutiva ou mista, moderada ou grave e usuários de AASI VO. Avaliação do benefício utilizando teste de reconhecimento de sentenças com ruído competitivo e medidas de ganho funcional e avaliação da satisfação utilizando questionário internacional QI - AASI. RESULTADOS: Foram avaliados 13 sujeitos, sendo 61% do sexo masculino e 80% com deficiência auditiva condutiva moderada ou grave. Houve melhor desempenho na avaliação proposta na condição com AASI, quando comparada à condição sem AASI. CONCLUSÃO: Os AASI VO retroauriculares apresentaram vantagens para a população estudada e devem ser considerados como uma opção para intervenção. A satisfação foi confirmada pelos escores elevados obtidos no QI - AASI. Abstract in english Hearing loss is one of the most common clinical findings in subjects with malformations of the ear. Treatment consists of surgery and/or adapt a hearing aid amplification by bone (HA VO). Early intervention is critical to auditory stimulation and development of speech and language. OBJECTIVE: To cha [...] racterize the audiological profile of subjects with congenital malformation of the external ear and/or middle and evaluate the benefit and satisfaction of using HA VO. METHOD: A descriptive study, subjects with bilateral congenital malformations of the external ear and/or middle, conductive or mixed hearing loss, moderate or severe and HA VO users. Evaluation of the benefit test using sentence recognition in noise and measures of functional gain and satisfaction assessment questionnaire using international IQ - HA. RESULTS: 13 subjects were evaluated, 61% were male and 80% with moderate conductive hearing loss or severe. There was better performance in the evaluation proposal, provided with HA when compared to the condition without HA. CONCLUSION: HA VO showed advantages for the population studied and should be considered as an option for intervention. Satisfaction was confirmed by elevated scores obtained in IQ - HA.

Elaine Cristina Moreto, Paccola; João Cândido, Fernandes; Maria Fernanda Capoani Garcia, Mondelli.

2013-06-01

258

A three-year-old boy with X-linked adrenoleukodystrophy and congenital pulmonary adenomatoid malformation: a case report  

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Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presen...

Cakan Nedim; Saadeh Sermin; Abdulhamid Ibrahim

2009-01-01

259

Limitations of fetal ultrasonography and magnetic resonance imaging in prenatal diagnosis of congenital cerebral arteriovenous malformations with hemorrhagic onset.  

Science.gov (United States)

A fetus at 30 gestational weeks was observed on fetal ultrasonography to have a dilated right lateral ventricle. After delivery, the entity was diagnosed as a prenatal intracerebral hemorrhage (ICH) due to a ruptured arteriovenous malformation (AVM). Ultrasonography and MRI examinations performed before birth indicated a cerebral aneurysm in the territory of the right middle cerebral artery. However, digital subtraction angiography revealed an intracystic hemorrhage due to a ruptured cerebral AVM. Arteriovenous malformations in children are rare, difficult to diagnose, and result in permanent sequelae after delayed treatment. Patient prognosis depends on early and accurate diagnosis and intervention. Outcomes can be improved if an AVM in a child is detected at the onset of ICH for young infants in the prenatal or early postnatal periods. Early AVM diagnosis is limited to fetal ultrasonography and MRI, and special consideration through invasive examination including neonatal digital subtraction angiography is urged unless a correct and clear diagnosis is made at an early stage. Prenatal ICH due to an AVM is rare. The authors discuss their observations and findings. PMID:22725727

Eguchi, Seiichiro; Aihara, Yasuo; Yamaguchi, Kohji; Okada, Yoshikazu

2012-08-01

260

Apuntes para la historia de las malformaciones congénitas en terneros de la región central de Cuba - Notes for the history of congenital malformations in calves of the central region of Cuba  

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Full Text Available ResumenSe realizó un estudio retrospectivo sobre los hallazgos de malformaciones congénitas en terneros en la región central de Cuba a partir de los primeros años de la década del 70 hasta nuestros días.SummaryIt was carried out a retrospective study on the discoveries of congenital malformations in calves in the central region of Cuba starting from the first years of the decade of the 70’s until our days.

Rojas Lleonart, Isaías

2011-01-01

 
 
 
 
261

Mortalidad infantil por malformaciones congénitas y condición socioeconómica: el caso de la Argentina / Infant mortality due to congenital malformations and socioeconomic status: the case of Argentina  

Scientific Electronic Library Online (English)

Full Text Available SciELO Public Health | Language: Spanish Abstract in spanish OBJETIVO: Relacionar la tasa de mortalidad infantil por malformaciones congénitas (TMIMC) y el porcentaje de muertes por malformaciones congénitas (%MMC) con las características sociodemográficas y económicas en la Argentina. MÉTODOS: La población estudiada de la Argentina reside en 511 departamento [...] s de 23 provincias, agrupadas en cinco regiones geográficas (Noroeste, Noreste, Centro, Cuyo y Patagonía). Las variables analizadas fueron la TMLMC y el %MMC calculados a partir de los nacimientos y las defunciones del quinquenio 2002-2006. Además, se utilizaron 21 variables del Censo de Población y Vivienda del 2001 (Instituto Nacional de Estadística y Censos de Argentina) para construir el Indicador Sociodemográfico y Económico (ISDE) mediante el análisis de componentes principales. Se realizaron pruebas de comparación para valorar si aparecían diferencias significativas entre las distintas regiones y las correlaciones entre indicadores, y de estos con la latitud y longitud departamental. RESULTADOS: La TMIMC no presentó correlación significativa con el ISDE ni con las coor denadas geográficas. El %MMC y el ISDE presentaron una correlación positiva significativa (P Abstract in english OBJECTIVE: Compare the infant mortality rate due to congenital malformations ( IMRCM) and the percentage of deaths due to congenital malformations (%DCM) with sociodemographic and economic characteristics in Argentina. METHODS: The Argentine study population resided in 511 departments of 23 province [...] s, grouped into five geographic regions (Northwest, Northeast, Central, Cuyo, and Patagonia). The analyzed variables were the IMRCM and the %DCM calculated on the basis of births and deaths during 2002-2006 period. In addition, 21 variables were used from the 2001 Population and Housing Census (National Census and Statistics Institute of Argentina) to construct the Sociodemographic and Economic Indicator (SDEI) through the analysis of principal components. Comparison tests were carried out in order to assess the significant differences among the various regions and the correlations between indicators, and of these with the departmental latitudes and longitudes. RESULTS: There was no significant correlation between the IMRCM and the SDEI, nor with geographic coordinates. However, there was a significant positive correlation between the IMRCM and the SDEI (P

Rubén A., Bronberg; Esperanza, Gutiérrez Redomero; María C., Alonso; José E., Dipierri.

2012-06-01

262

The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations.  

Science.gov (United States)

There were three objectives of this study: to investigate possible specificity in the association between specific cardiac defects and chromosomal anomalies; to evaluate ways of categorizing cardiac defects into larger groups with epidemiological similarities that could indicate similarities in etiology or pathogenesis; and to analyze the relationship between specific cardiac defects and diabetes. We pooled data on infants (aged 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. For severe congenital heart defects, the percentage of infants with identified chromosomal anomalies varied between 0.9% for d-TGV to 68.4% for ECD. In general, specific cardiac conditions have different risk factors. For example, conotruncal defects have been traditionally grouped, but the data presented in this paper indicates more differences for risk factors for the components of conotruncal defects: tetralogy of Fallot, d-TGV, common truncus, and DORV. In general, we suggest the strategy of "splitting" rather than "lumping" when searching for specific genetic factors and/or teratogens. Adequate analysis thus requires large registries or collaboration among registries. The findings did not support constellations between mothers' diabetes and specific defects. PMID:12632214

Harris, J A; Francannet, C; Pradat, P; Robert, E

2003-01-01

263

Cerebral malformations without antenatal diagnosis  

Energy Technology Data Exchange (ETDEWEB)

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.)

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

2010-06-15

264

Congenital skeletal malformations and cleft palate induced in goats by ingestion of Lupinus, Conium and Nicotiana species.  

Science.gov (United States)

Three piperidine alkaloid containing plants, Conium maculatum (poison-hemlock), Nicotiana glauca (tree tobacco) and Lupinus formosus (lunara lupine), induced multiple congenital contractures (MCC) and palatoschisis in goat kids when their dams were gavaged with the plant during gestation days 30-60. The skeletal abnormalities included fixed extension or flexure of the carpal, tarsal, and fetlock joints, scoliosis, lordosis, torticollis and rib cage abnormalities. Clinical signs of toxicity included those reported in sheep, cattle and pigs--ataxia, incoordination, muscular weakness, prostration and death. One quinolizidine alkaloid containing plant, Lupinus caudatus (tailcup lupine), on the other hand, which is also known to cause MCC in cows, caused only slight signs of toxicity in pregnant goats and no teratogenic effects in their offspring. PMID:2089736

Panter, K E; Keeler, R F; Bunch, T D; Callan, R J

1990-01-01

265

Anorectal malformations.  

Science.gov (United States)

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

Gangopadhyay, Ajay Narayan; Pandey, Vaibhav

2015-01-01

266

Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2  

Digital Repository Infrastructure Vision for European Research (DRIVER)

We report on three unrelated patients with the 22q11.2 microdeletion syndrome (del22q11) who have phenotypic anomalies compatible with oculo-auriculo-vertebral spectrum (OAVS). Hemifacial microsomia, unilateral microtia, hearing loss, congenital heart/aortic arch arteries defects, and feeding difficulties were present in all three patients. Additional anomalies occasionally diagnosed included coloboma of the upper eyelid, microphthalmia, cerebral malformation, palatal anomalies, neonatal hypo...

Digilio, M. Cristina; Mcdonald-mcginn, Donna M.; Heike, Carrie; Catania, Charles; Dallapiccola, Bruno; Marino, Bruno; Zackai, Elaine H.

2009-01-01

267

Tratamento cirúrgico de malformação digital congénita do membro superior / Surgical treatment of a congenital arteriovenous malformation of the upper limb  

Scientific Electronic Library Online (English)

Full Text Available SciELO Portugal | Language: Portuguese Abstract in portuguese Introdução: As malformações arteriovenosas (MAV) podem ter uma apresentação clínica e evolução imprevisíveis. Por isso, o seu tratamento é ainda um desafio entre as várias patologias vasculares. MAV’s das extremidades de localização muito periférica podem não ser amenizáveis por emboloterapia devido [...] ao risco elevado de necrose. Os autores apresentam um caso clínico de uma malformação arteriovenosa congénita do membro superior que foi abordado exclusivamente por cirurgia convencional. Caso clínico: Mulher de 27 anos sem antecedentes pessoais relevantes, seguida em consulta por malformação do 5º dedo da mão direita, com agravamento progressivo de queixas de dor, impotência funcional, deformidade do dedo da mão e incapacidade laboral. A doente foi submetida a uma ressecção da malformação arteriovenosa e laqueação dos principais ramos aferentes da MAV. Após um seguimento de 8 meses, a doente apresenta a incisão cirúrgica cicatrizada, sem impotência funcional do dedo e sem evidência clínica de recidiva. Conclusões: O tratamento cirúrgico das MAV digitais do membro superior pode ser realizado de forma curativa com conservação do dedo, com resultados estéticos e funcionais favoráveis. Abstract in english Introduction: Arteriovenous malformations (AVM) have a variety of clinical presentations and may evolve in unpredictable ways. Therefore, its management is still challenging. AVM’s with very peripheral location on the extremities, embolotherapy may be contraindicated due to the risk of necrosis. The [...] authors present a clinical case in which a finger AVM was treated surgically. Clinical case: A 27 year-old woman with a known AVM affecting the 5th finger of the right hand presented progressive pain, functional and cosmetic impairment of the finger, which significantly interfered with her professional occupation. A surgical procedure consisting of ligation of all the afferent vessels with complete nidus resection was performed. After 8 months of follow-up, the patient had a fully healed surgical incision, and was without any functional limitations or signs of clinical relapse. Conclusion: Surgical treatment of AVM affecting the fingers may be accomplished in a curative way with good cosmetic and functional outcomes.

Nelson, Oliveira; Luiza, Ferraz; Lisa, Borges; Emanuel, Dias; Fernando, Oliveira; Isabel, Cássio.

2014-03-01

268

Cor triatriatum sinistrum: estrategia diagnóstica y terapéutica / Cor triatriatum a rare congenital cardiac malformation of diagnostic difficulty  

Scientific Electronic Library Online (English)

Full Text Available SciELO Mexico | Language: Spanish Abstract in spanish Introducción. El cor triatriatum sinistrum es una membrana fibromuscular anómala en aurícula izquierda que la divide en 2 cavidades, con grados variables de obstrucción. Material y métodos. Estudio retrospectivo, longitudinal y descriptivo, que muestra 10 pacientes tratados en el Hospital Infantil d [...] e México Federico Gómez en 26 años, diagnosticados con ecocardiografía. Resultados. En ningún caso fue necesario realizar estudios adicionales ya que la ecocardiografía fue definitiva en el diagnóstico. La media de edad fue 16.9 meses; distribución por sexos 1:1. Dos pacientes murieron. El seguimiento a largo plazo promedió 46.8 meses en los 8 pacientes restantes. Conclusión. La ecocardiografía fue diagnóstica e identificó anomalías cardiacas congénitas asociadas. El abordaje por atriotomía derecha permitió una excelente exposición, la resección de la membrana obstructiva y la resolución de defectos asociados, demostrando ser la medida terapéutica definitiva. Esta es la serie pediátrica más grande reportada en nuestro país a la fecha. Abstract in english Introduction. We define cor triatriatum sinistrum as an anomalous fibromuscular membrane in the left atrium which divides it into 2 cavities with variable degrees of obstruction. Material and methods. In this retrospective, longitudinal and descriptive study we show a series of ten patients treated [...] at the Hospital Infantil de Mexico in a 26 year-experience diagnosed by echocardiography. Results. No additional studies were necessary. Median age was 16.9 months; sex distribution was 1:1, registering mortality in 2 patients (20%). Long-term follow-up in 8 remaining patients had a mean of 46.8 months. Echocardiography is diagnostic and identifies associated congenital cardiac anomalies; right atriotomy approach provides excellent exposure and allows resection of the obstructive membrane. It also allows resolution of associated defects and is the preferential approach. Conclusion. This is the largest pediatric series reported to date in our country.

Alejandro, Bolio-Cerdán; Miguel Ángel, Medina-Andrade; Patricia, Romero-Cárdenas; Sergio, Ruiz-González; Carlos Max, Luna-Valdez; Javier, González-Peña.

2007-02-01

269

O impacto da interrupção da gravidez por mal formação congénita: a perspectiva do pai / The interruption of pregnancy due to congenital malformation: the father`s perspective  

Scientific Electronic Library Online (English)

Full Text Available SciELO Portugal | Language: Portuguese Abstract in portuguese Os avanços das técnicas de diagnóstico pré-natal, tornaram possível a identificação de alguns problemas de saúde do feto in-útero, e a determinação do risco da sua ocorrência, deixando aos pais a liberdade e responsabilidade de decidir acerca da saúde do feto, muito antes do seu nascimento. A comple [...] xidade de tais decisões coloca os casais numa encruzilhada, em que qualquer dos caminhos escolhidos marcará as suas vidas. As vivências do progenitor masculino têm sido quase ignoradas pelos investigadores, pelo que a experiência do pai continua a ser muito pouco conhecida. O presente estudo pretende conhecer e compreender os significados atribuídos pelo Pai à experiência de interrupção da gravidez, por anomalia fetal. Para isso recorremos a uma metodologia qualitativa (Grounded Theory). A amostra é constituída por 12 homens cujas esposas interromperam a gravidez no serviço de obstetrícia do Hospital S. Marcos em Braga. Os resultados apontam a interrupção de gravidez por malformação congénita, como uma experiência emocionalmente intensa, com um intenso envolvimento dos pais ao longo do processo. A tomada de decisão representou a confrontação de dúvidas e incertezas, de sentimentos ambivalentes e de dilemas morais, como consequência do investimento na gravidez e da relação afectiva que já existia com o feto. Os pais tendem a desvalorizar os seus sentimentos e as suas necessidades de apoio, centrando as suas preocupações na companheira. Os profissionais de saúde, na opinião dos pais, não só demonstram pouca sensibilidade face aos seus sentimentos e necessidades como constituem um obstáculo ao envolvimento do pai ao longo do processo. A partilha desta experiência com a esposa e o apoio mútuo entre o casal fortaleceu a relação. Os projectos de nova gravidez evidenciam a busca de um novo sentido de vida para estes pais. Estes resultados enfatizam a necessidade de um olhar mais atento sobre o impacto que este acontecimento tem na vida do pai e da importância dos profissionais de saúde neste processo. Abstract in english The development of prenatal diagnosis techniques have made possible the identification of some health problems in the inborn baby and the determination of the risk of such occurrence, leaving parents with the choice and responsibility of deciding about the fetus’ health long before the birth. The co [...] mplexity of such decisions places the couple in a crossroad and any of the chosen roads will impact their lives forever. The father´ s experience has been neglected by researchers and, as a result, their experience is not well known. This study aims to understand the meanings fathers give to the pregnancy interruption, due to congenital malformation, of their baby. A qualitative analysis was used (grounded theory). The sample includes 12 men whose wives terminated their pregnancy in the obstetric service of S. Marcos Hospital in Braga. Results show that pregnancy interruption due to congenital malformation is a very intense emotional experience, with a great involvement of fathers during the entire process. The decision making process required a confrontation of doubts and uncertainties, ambivalent feelings and moral dilemmas, as a consequence of the investment on the pregnancy and the emotional relationship that was already established with the baby. Fathers tend not to value their need for support, and centred all their worries on their mates. Health professionals, in their opinion, show low sensibility towards their feelings and needs and are seen as barriers to their involvement through the process. Sharing their experience with their mates and mutual support between the couple strengthen the marital relationship. The project of a new pregnancy revealed the search for a new meaning in these fathers’ lives. These results show the need to look in depth into the impact of this life event on the father´ s life and the role of health professionals in the process.

Lucília, Sousa; M. Graça, Pereira.

270

Malformaciones congénitas como causa de hospitalización en una Unidad de Terapia Intensiva Neonatal / Congenital malformations as a cause of hospitalization in a Neonatal Intensive Care Unit  

Scientific Electronic Library Online (English)

Full Text Available SciELO Mexico | Language: Spanish Abstract in spanish Introducción: Las malformaciones congénitas (MC) son un problema importante de salud pública y la principal causa de muerte en niños. Representan el 20% de la mortalidad infantil en el primer año de vida. Objetivo: Evaluar la contribución de las MC como causa de hospitalización en una Unidad de Tera [...] pia Intensiva Neonatal, basado en el uso de datos obtenidos de una población de neonatos. Material y métodos: Estudio descriptivo en 2,907 neonatos del año 2005-2009, evaluados y categorizados por MC a través de CIE-10, OMS, obtenido por medio del expediente clínico al ingreso a la UCINEX, Hospital Civil de Guadalajara ''Fray Antonio Alcalde''. Los resultados fueron evaluados en porcentaje y medidas de tendencia central. Resultados: Doscientos noventa y cinco neonatos (10%) presentaron MC; 67% fueron masculinos y 33%, femeninos. Mielomeningocele fue la MC más frecuente (13%), mientras que el aparato gastrointestinal fue el más afectado con 27% de las MC. Las anormalidades cromosómicas generaron la estancia intrahospitalaria más elevada (20.5 ± 5.5 días), el sistema cardiovascular presentó 34% de defunción. La mortalidad resultó en 14.2%; 60% de las MC se intervinieron quirúrgicamente y el 64.5% radicaba en la zona metropolitana del Estado de Jalisco. Conclusiones: El conocimiento de la contribución de las MC en la mortalidad neonatal es importante para la integración de medidas preventivas y planificación de estrategias eficaces de atención a la salud, especialmente en las causas, tratamiento y prevención de estos trastornos. Esta información resalta la importancia de estudiar más a fondo el reconocimiento precoz de la morbimortalidad en la población pediátrica. Abstract in english Introduction: Congenital malformations (CM) are a major public health problem and the leading cause of death in children; representing 20% of infant mortality in the first year of life. Objective: To evaluate the contribution of CM as a cause of hospitalization in a Neonatal Intensive Care Unit. Mat [...] erial and methods: We performed a retrospective, observational, transversal and descriptive study, in which we reviewed the medical records of 2,907 neonates, which entered the External Service of Neonatal Intensive Care (UCINEX) of the Hospital Civil de Guadalajara ''Fray Antonio Alcalde'', in the period 2005-2009 with the diagnostic of congenital malformations (CM) according to the WHO ICD-10. Statistics: measures of central tendency and percentages were done. Results: Two hundred ninety five infants (10.14%) had CM, 67% male and 33% female. CM myelomeningocele was the most frequent (12.9%). The gastrointestinal tract was the most affected with 27.4% of CM, chromosomal abnormalities generated more days of hospitalization (20.5 ± 5.5 days), the cardiovascular system showed 34.2% of deaths. The overall mortality was 14.2%; 60% of CM was treated surgically and 64.5% of the mothers of these infants were living in the metropolitan area of Jalisco State. Conclusions: Knowledge of the contribution of CM to neonatal mortality is important for the integration of preventive measures and plan effective strategies for its prevention, identify their causes and establish treatment. This information highlights the importance of further study of early recognition of the morbidity and mortality in the pediatric population.

Víctor Michael, Salinas-Torres; José Alfonso, Gutiérrez-Padilla; Oscar Miguel, Aguirre-Jáuregui; Eusebio, Angulo-Castellanos.

2012-06-01

271

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.  

Science.gov (United States)

In this report, we describe a brother and sister who presented at birth with short-limb skeletal dysplasia, polyhydramnios, prematurity, and generalized edema. Dysmorphic features included broad nose, thick ears, thin lips, micrognathia, inverted nipples, ulnar deviation at the wrists, spatulate fingers, fifth finger camptodactyly, nail hypoplasia, and talipes equinovarus. Other features included short stature, microcephaly, psychomotor retardation, B-cell lymphopenic hypogammaglobulinemia, sensorineural deafness, retinal detachment and blindness, intestinal malrotation with poor gastrointestinal motility, persistent hyponatremia, intermittent hypoglycemia, and thrombocytopenia. Cardiac anomalies included PDA, VSD, hypertrophic cardiomyopathy, and arrhythmias. The brother had a small penis with hypospadias, hypoplastic scrotum, and non-palpable testes. Skeletal findings included absent ossification of cervical vertebral bodies, pubic bones, knee epiphyses, and tali. Both sibs died before age 2 years, one of overwhelming sepsis and the other of cardiorespiratory failure associated with her cardiomyopathy. Metabolic studies showed a type 1 pattern of abnormal serum transferrin glycosylation. Fibroblasts synthesized truncated LLOs, primarily Man(7)GlcNAc(2), suggestive of CDG-Ig. Both sibs were compound heterozygotes for a novel 301 G > A (G101R) mutation and a previously described 437 G > A (R146Q) mutation in ALG12. Congenital disorders of glycosylation should be considered for children with undiagnosed multi-system disease including neurodevelopmental delay, skeletal dysplasia, immune deficiency, male genital hypoplasia, and cardiomyopathy. PMID:17506107

Kranz, Christian; Basinger, Alice A; Güçsava?-Caliko?lu, Müge; Sun, Liangwu; Powell, Cynthia M; Henderson, Frederick W; Aylsworth, Arthur S; Freeze, Hudson H

2007-06-15

272

Trimethoprim use before pregnancy and risk of congenital malformation : reanalyzed using a case-crossover design and a case-time-control design  

DEFF Research Database (Denmark)

PURPOSE: Studies on the safety of drugs used during pregnancy are necessary and important but prone to bias. Using cases as their own controls can reduce bias. We used a case-crossover design and a case-time-control design to estimate the risk of congenital malformation (CM) for children born to mothers who redeemed a trimethoprim prescription shortly before pregnancy. METHODS: The study was based on all live born singletons (N?=?685?600) in Denmark whose mothers had available information on prescriptions in the Danish National Prescription Registry between 1996 and 2008. We defined 1-3?months before pregnancy as a potential risk period and 13-15?months before pregnancy as a reference period. Two other reference periods were used (7-9?months before pregnancy and months 4-6 of pregnancy). The case-crossover design is dependent on the assumption of a stable trimethoprim prescription over the study period in the source population. To estimate the trend of trimethoprim prescriptions, we used a control group comprising children without CMs. RESULTS: Both study designs showed children had a higher risk of overall CM [odds ratio of 1.66, 95% confidence interval (CI): 1.10-2.53 and 1.50, 95%CI: 0.66-3.38, respectively] if their mothers had a trimethoprim prescription in the 3?months before pregnancy and subtypes of CM for example in the musculoskeletal system, which were consistent to the previous findings from a cohort study. CONCLUSIONS: This study corroborates that trimethoprim is a potential teratogen when used 3?months before pregnancy and demonstrates the value of case-only approaches for studying, for example, adverse effects of antibiotics in reproductive epidemiology. Copyright © 2014 John Wiley & Sons, Ltd.

Sun, Yuelian; Wu, Chun Sen

2014-01-01

273

Malformações detectadas pelo ultrassom abdominal em crianças com cardiopatia congênita / Malformations detected by abdominal ultrasound in children with congenital heart disease  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC), trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (US [...] A), comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH) para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009), com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034). No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal. Abstract in english BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD), bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency and types of abdominal abnormalities detected in children with and without CHD through abdominal ultrasound (AUS), co [...] mpare the patients in relation to their dysmorphic/cytogenetic findings and perform an estimative of the cost-effectiveness of the screening through AUS. METHODS: 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. RESULTS: 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. CONCLUSION: 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.

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

1092-10-01

274

Congenital lung lesions.  

Science.gov (United States)

Confusion, controversy, and uncertainty are all terms applicable to the diagnosis and management of congenital lung lesions both prenatally and postnatally. This review examines the current status of fetal diagnosis and treatment of these lesions; reviews the various classifications, including congenital cystic adenomatoid malformation/congenital pulmonary airway malformation, sequestrations, variants and hybrid lesions; discusses the risk of malignant transformation or misdiagnosis with pleuropulmonary blastoma; presents the arguments in favor and against resection of asymptomatic lesions, the timing of such resection, and the long-term pulmonary function after resection; and reviews the experience with thoracoscopic resection of congenital lung lesions. PMID:22682383

Puligandla, Pramod S; Laberge, Jean-Martin

2012-06-01

275

Procesos embrionarios y malformaciones congénitas. Revisión con reporte de casos / Embryonic processes and congenital malformations. Review with case reports  

Scientific Electronic Library Online (English)

Full Text Available SciELO Colombia | Language: Spanish Abstract in spanish Los procesos fundamentales de la dinámica embrionaria en el reino animal, y particularmente en los vertebrados, obedecen a un programa genético que solo ha comenzado a comprenderse en los últimos años. Uno de los principales objetivos de los biólogos del desarrollo es develar el misterio de cómo un [...] oocito, después de ser fecundado, se transforma en un organismo multicelular. Esta dinámica requiere la activación de un complejo programa de desarrollo en el que genes específicos se expresan en una secuencia temporal precisa, y en la ubicación correcta, para dar origen a diferentes tipos de tejidos como la piel, músculos y nervios, entre otros. Mediante el estudio de mutantes en Drosophila se han identificado genes que participan en la organización del patrón de desarrollo del embrión, los cuales son activos en las hembras. Asimismo, en los últimos años, gracias a las técnicas moleculares, se han realizado grandes avances en el conocimiento de los mecanismos que controlan este intrincado proceso. Este trabajo plantea diversos aspectos relacionados con la teratogenia asociada a la gastrulación, periodo que es muy sensible a las agresiones, así como el aporte de casos y un análisis de los avances en el conocimiento de los procesos moleculares implicados en la dinámica embrionaria. Abstract in english The fundamental processes of embryonic dynamics in the animal kingdom and particularly in vertebrates are due to a genetic program that has begun to be understood in recent years. One of the developmental biologists' main goals is to unravel the mystery of how after being fertilized an oocyte become [...] s a multicellular organism. This dynamic requires activation of a complex development program in which genes are expressed in a temporal, precise sequence and in the correct location to give rise to different types of tissues such as skin, muscles and nerves among others. The genes involved in the embryo development pattern, active in females, have been identified by studying Drosophila mutants. Also, thanks to molecular techniques, advances in understanding the intricate mechanism that control this process have been significant in recent years. This work raises several issues related to teratogenicity associated with gastrulation, embryonic stage sensitive to damages. Also, this work provides study cases and a review of the progress in the understanding of molecular processes involved in embryonic dynamics.

Luis, Cervantes Parra; Alfonso, Londoño Orozco; Marco, Nieto García; Ricardo, Gutiérrez De Aguas.

2012-06-01

276

Associated congenital anomalies: Vestibular fistula, duodenal atresia and obstructive refluxing megaureter  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Congenital gastrointestinal anomalies include spectrum of malformations, simple ones as well as complex, which are associated with anomalies of other organs and systems of organs. Most infants (50-60%) with imperforate anus also have genitourinary, cardiovascular, gastrointestinal and vertebral anomalies. This case report is of a female newborn with prenatally diagnosed duodenal atresia and right hydronephrosis. Clinical investigation revealed an imperforate anus with vestibular fistula. A pl...

Bukarica Svetlana S.; Marinkovi? Smiljana P.; Borišev Vladimir V.; Anti? Jelena; Stani?-?anji Danica

2004-01-01

277

Congenital Anomalies in Infant with Congenital Hypothyroidism  

Directory of Open Access Journals (Sweden)

Full Text Available bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinicof Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life.Results: A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males were recruited during the period between May 2006-2010. Overall, 30 (20% infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1% had congenital cardiac anomalies such as: ASD (n=3, VSD (n=2, PS (n =1, PDA (n=1. Three children (2.6% had developmental displasia of the hip (n=3.Conclusion: The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies.

Zahra Razavi

2012-09-01

278

Prevalencia de malformaciones congénitas registradas en el certificado de nacimiento y de muerte fetal: México, 2009-2010 / Prevalence of congenital malformations recorded on the birth certificate and fetal death, Mexico, 2009 to 2010  

Scientific Electronic Library Online (English)

Full Text Available SciELO Mexico | Language: Spanish Abstract in spanish Introducción. Las malformaciones congénitas son causas importantes de mortalidad infantil, enfermedad crónica y discapacidad en muchos países. La frecuencia esperada es de 2 a 3% en nacidos vivos y de 15 a 20% en muertes fetales. En México, en 2010, la mortalidad infantil ocupó el segundo lugar, con [...] una tasa de 336.3/100,000 nacimientos. El objetivo de este trabajo fue estimar la prevalencia de malformaciones congénitas en México al nacimiento y las principales causas registradas en los certificados de nacimiento y muerte fetal para el período 2009-2010. Métodos. Se conjuntaron las bases de datos del certificado de nacimiento de nacido vivos y del de muerte fetal. Resultados. La población total fue de 4'123,531 registros, 99.3% nacidos vivos y 0.7% muertes fetales. Se registró un total de 30,491 casos de malformaciones congénitas en 91.7% nacidos vivos y 8.3% muertes fetales. La prevalencia fue de 73.9/10,000 nacimientos. Conclusiones. La tasa de prevalencia fue más baja que la esperada. Se requieren programas de validación y capacitación para fortalecer estos sistemas de registro. Abstract in english Background. Congenital malformations are a main cause of infant death, chronic illness and disability in several countries. The expected frequency is ~2-3% in live newborns and ~15-20% in stillbirths. In 2010 in Mexico, infant mortality ranked in second place with a rate of 336.3/100,000 births. In [...] order to estimate prevalence and main causes of congenital malformations in live births and stillbirths, national base registries of newborns and stillbirths were evaluated for 2009-2010. Methods. Databases of neonatal live births and fetal deaths were combined. Results. From a total population of 4,123,531 certificates, 99.3% were live born and there were 0.7% fetal deaths. Congenital malformations were registered in 30,491 cases, 91.7% of live newborns and 8.3% of fetal deaths with a prevalence rate of congenital malformations of 73.9/10,000. Conclusions. The reported prevalence was lower than expected. It is necessary to enforce registry systems through system validation and training of personnel.

Eduardo, Navarrete Hernández; Sonia, Canún Serrano; Aldelmo E., Reyes Pablo; María del Carmen, Sierra Romero; Javier, Valdés Hernández.

2013-12-01

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Supernumerary nostril: Congenital adrenal hyperplasia with a rare congenital anomaly  

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Multiple or supernumerary nostril is a rare congenital anomaly with unknown etiology. The first case was reported by Lindsay as bilateral supernumerary nostrils. Supernumerary nostril cases are mostly unilateral and isolated. They are also reported with other congenital malformations like facial clefts and congenital anomalies like congenital auricular hypoplasia, congenital cataracts, eusophageal atresia and patent ductus arteriosus. Here, we report a case of supernumerary nostril with conge...

Ciloglu, Sinem; Duran, Alpay; Buyukdogan, Hasan; Yigit, Ahmet K.

2014-01-01

280

Congenital malformations of the supratentorial brain. Pt. 2. Disorders of the corpus callosum and holoprosencephalies; Kongenitale Malformationen des Grosshirns. Teil 2: Entwicklungsstoerungen des Balkens und Holoprosenzephalien  

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The corpus callosum is formed between the 7th and the 20th gestational week. If this process is disrupted, partial or complete callosal agenesis may ensue. As large parts of the supra- and infratentorial brain are created druing this critical period, associated anomalies need always to be searched for when callosal agenesis is present. Associations with neuro-genetic syndromes also exist. The corpus callosum is generally formed from front to back (''front-to-back rule''). Therefore, a partial callosal agenesis usually involves the posterior portion of the corpus callosum, while a secondary lesion of the corpus callosum does not follow this rule. Holoprosencephalies are a notable exception to this rule, as the frontal part of the corpus callosum is absent in spite of their classification as congenital malformations. They represent a disturbance of the differentiation and cleavage of the prosencephalon with a disruption of the separation of the cerebral hemispheres. Holoprosencephalies can be due to genetic causes, but also to intrauterine infections or other teratogenic causes. The holoprosencephalies are subdivided into alobar, semilobar and lobar holoprosencephalies. This article aims to describe the most important features of callosal agenesis and holoprosencephalies highlighting the respective imaging characteristics. (orig.) [German] Die Anlage des Balkens findet in der 7.-20. Woche nach Gestation statt. Stoerungen in dieser Entwicklungsphase koennen zu einer Balkenagenesie oder zu einer Balkenhypogenesie fuehren. Da in diesem Entwicklungsstadium grosse Anteile des Gross- und Kleinhirns angelegt werden, muss immer nach assoziierten Anlagestoerungen gesucht werden. Ebenso treten auch Kombinationen mit genetisch bedingten Syndromen auf. Die Entwicklung des Balkens folgt der sog. anterioren-posterioren Sequenz (''front-to-back rule''). Sekundaere Schaedigungen bei der Balkenentwicklung folgen dieser Regel nicht, und lassen sich daher meist gut von einer Anlagestoerung differenzieren. Die Holoprosenzephalie bildet eine Ausnahme zu dieser Regel, da bei ihr der frontale Anteil des Balkens fehlt, wenngleich eine kongenitale Stoerung vorliegt. Sie stellt eine Stoerung der Differenzierung und Aufspaltung des Prosenzephalons dar. Die Ausbildung und Abtrennung der Grosshirnhemisphaeren ist gestoert. Holoprosenzephalien koennen sowohl genetisch als auch teratogen bedingt sein. Man unterscheidet 3 Formen, die alobaere, die semilobaere und die lobaere Holoprosenzephalie. Dieser Artikel soll die wichtigsten Erscheinungsformen der Anlagestoerungen des Balkens und der Holoprosenzephalien beschreiben und ihre bildgebenden Charakteristika illustrieren. (orig.)

Rummeny, C. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany); Institut fuer klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Marchioninistrasse 15, 81377, Muenchen (Germany); Ertl-Wagner, B.; Reiser, M.F. [Institut fuer Klinische Radiologie, Klinikum der Universitaet Muenchen, Grosshadern, Muenchen (Germany)

2003-11-01

 
 
 
 
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Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes / Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment  

Scientific Electronic Library Online (English)

Full Text Available SciELO Mexico | Language: Spanish Abstract in spanish OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC) en hijos de madres epilépticas (HME) tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico [...] de casos y controles en 166 recién nacidos vivos HME identificados en 21 501 recién nacidos con MC y respectivos controles del Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTADOS: La frecuencia de MC en HME tratadas fue mayor, (48.3%) que en HME no tratadas (28.3%); (RM= 2.37 IC95% 1.08-5.40), p=0.03. Las MC más frecuentes fueron espina bífida, anomalías en reducción de miembros, labio/paladar hendido, microcefalia, anotia/microtia, hipospadias, paladar hendido, polidactilia, anoftalmia/microftalmia y onfalocele. No hubo diferencias entre uso de mono o politerapia. La difenilhidantoína, carbamazepina y ácido valproico fueron los anticonvulsivantes más utilizados. CONCLUSIONES: Los resultados confirman la teratogenicidad propia de la epilepsia y el efecto sinérgico de ciertos anticonvulsivantes, lo que evidencia la necesidad de un apropiado control periconcepcional de esta enfermedad y su tratamiento. Abstract in english OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, i [...] n 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

Jazmín, Arteaga-Vázquez; Leonora, Luna-Muñoz; Osvaldo M, Mutchinick.

2012-12-01

282

Malformaciones congénitas en hijos de madres epilépticas con y sin tratamiento con anticonvulsivantes / Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment  

Scientific Electronic Library Online (English)

Full Text Available SciELO Public Health | Language: Spanish Abstract in spanish OBJETIVO: Determinar la frecuencia y tipo de malformaciones congénitas (MC) en hijos de madres epilépticas (HME) tratadas y no tratadas con anticonvulsivantes, la posible correlación anticonvulsivante/MC y la asociación con otras alteraciones del desarrollo. MATERIAL Y MÉTODOS: Estudio multicéntrico [...] de casos y controles en 166 recién nacidos vivos HME identificados en 21 501 recién nacidos con MC y respectivos controles del Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTADOS: La frecuencia de MC en HME tratadas fue mayor, (48.3%) que en HME no tratadas (28.3%); (RM= 2.37 IC95% 1.08-5.40), p=0.03. Las MC más frecuentes fueron espina bífida, anomalías en reducción de miembros, labio/paladar hendido, microcefalia, anotia/microtia, hipospadias, paladar hendido, polidactilia, anoftalmia/microftalmia y onfalocele. No hubo diferencias entre uso de mono o politerapia. La difenilhidantoína, carbamazepina y ácido valproico fueron los anticonvulsivantes más utilizados. CONCLUSIONES: Los resultados confirman la teratogenicidad propia de la epilepsia y el efecto sinérgico de ciertos anticonvulsivantes, lo que evidencia la necesidad de un apropiado control periconcepcional de esta enfermedad y su tratamiento. Abstract in english OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, i [...] n 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

Jazmín, Arteaga-Vázquez; Leonora, Luna-Muñoz; Osvaldo M, Mutchinick.

2012-12-01

283

Carcinoma bronquíolo-alveolar associado a malformação congénita das vias aéreas pulmonares em adolescente assintomático / Bronchioloalveolar carcinoma associated with congenital pulmonary airway malformation in an asymptomatic adolescent  

Scientific Electronic Library Online (English)

Full Text Available SciELO Portugal | Language: Portuguese Abstract in portuguese A malformação congénita das vias aéreas pulmonares (CPAM) é uma entidade rara com potencial de transformação maligna. Relata-se o caso de um rapaz de 14 anos, assintomático, referenciado à consulta após detecção de imagem nodular na base do pulmão direito num radiograma de tórax. A tomografia comput [...] orizada (TC) mostrou, no pulmão direito, formação redonda de média densidade com centro cavitado. Após um ano de seguimento, mantinha-se assintomático, sendo a imagem radiológica sobreponível. Em conjunto com a equipa de cirurgia cardiotorácica foi decidido proceder a biópsia excisional. O exame histológico revelou um carcinoma bronquíolo-alveolar mucinoso associado a CPAM tipo 1. Perante este resultado, o doente foi submetido a lobectomia inferior direita. No exame histológico do restante lobo, não se identificou tumor ou malformação residuais. Mantém-se assintomático e sem complicações passados dois anos. Tanto quanto é do conhecimento dos autores, este é o primeiro caso desta rara associação em Portugal. Discute-se a abordagem de lesões quísticas em doentes assintomáticos. Abstract in english Congenital pulmonary airway malformation (CPAM) is a rare entity with potential for malignant transformation. We describe the case of a fourteen-year-old boy evaluated for the presence of a nodular image on the right lung on the chest x-ray. Computerized Tomography (CT) showed a round lesion of medi [...] um density with cavitation on the right lung. After one year of follow-up the patient was still asymptomatic and the image was similar. With the agreement of the cardiothoracic surgeons an excisional biopsy was performed. The histological examination revealed a mucinous bronchioloalveolar carcinoma associated with a type 1 CPAM. The patient was then submitted to right inferior lobectomy. After two years follow-up he is asymptomatic and free of complications. To the authors best knowledge this is the first case reported in Portugal of this rare association. The approach to cystic lesions in asymptomatic patients is discussed.

Francisco, Abecasis; Maria Gomes, Ferreira; Ana, Oliveira; Henrique Vaz, Velho.

2008-03-01

284

Supratentorial CNS malformations  

International Nuclear Information System (INIS)

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 aatures 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 pathogenetic processes leading to the disorder in a given patient. Certain anomalies previously thought to be isolated have proven to be associated with one or more other brain malformations. When one CNS malformation is found expanded scrutiny of the whole of the whole brain for further anomalies is required. Learning objectives: 1) To describe what the radiologist should know about supratentorial anatomy and embryology; 2) To discuss some of the pitfalls in MR imaging in malformations of cortical development; 3) To show the spectrum of imaging findings of supratentorial CNS malformations

285

Routine ultrasound examination at 12 or 18 gestational weeks for prenatal detection of major congenital heart malformations? A randomised controlled trial comprising 36 299 fetuses.  

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Objective To compare the rate of prenatal diagnosis of heart malformations between two policies of screening for heart malformations. Design Randomised controlled trial. Setting Six university hospitals, two district general hospitals. Sample A total of 39 572 unselected pregnancies randomised to either policy. Methods The 12-week policy implied one routine scan at 12 weeks including measurement of nuchal translucency (NT), and the 18 week policy implied one routine scan at 18 weeks. Fetal an...

Westin, Maria-dorothea; Saltvedt, S.; Bergman, G.; Kublickas, M.; Almstrom, H.; Grunewald, C.; Valentin, Lil

2006-01-01

286

Abernethy malformation: a case report  

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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.

Pathak Ashish

2012-05-01

287

Brain Malformations  

Science.gov (United States)

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. Types of brain malformations include missing parts ...

288

Congenitally corrected transposition  

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Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

Debich-Spicer Diane

2011-05-01

289

A chromosomal deletion map of human malformations.  

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Malformations are common causes of pediatric morbidity and mortality, and genetic factors are a significant component of their etiology. Autosomal deletions, in almost all cases, cause a nonspecific embryopathy that presents after birth as growth failure, mental retardation, and multiple malformations. We have constructed a chromosome map of autosomal deletions associated with 47 different congenital malformations, using detailed clinical and cytogenetic information on 1,753 patients with non...

Brewer, C.; Holloway, S.; Zawalnyski, P.; Schinzel, A.; Fitzpatrick, D.

1998-01-01

290

Malformação adenomatoide cística congênita: características clínicas, conceitos patológicos e tratamento em 172 casos Congenital cystic adenomatoid malformation: clinical features, pathological concepts and management in 172 cases  

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Full Text Available OBJETIVO: A malformação adenomatoide cística congênita (MACC é a malformação pulmonar ressecada cirurgicamente mais comum em crianças. Este estudo retrospectivo foi realizado para apresentar a experiência de 172 casos de MACC em um hospital pediátrico. MÉTODOS: Séries publicadas com um pequeno número de pacientes relatam detalhes de lesões, evolução e tratamento. Como este estudo lida com características clínicas, evolução e procedimentos cirúrgicos em 172 crianças com diagnóstico de MACC, a população inclui casos tratados e acompanhados em um hospital pediátrico ao longo de 25 anos (1986-2011. RESULTADOS: A idade média ao diagnóstico foi de 48 meses (r = 0,03-213, 52% (n = 90 eram do sexo masculino. Os sintomas de apresentação mais comuns foram dificuldade respiratória em crianças com menos de 6 meses de idade (40% e pneumonia recorrente nas que tinham mais idade (75%; p = 0.001. Lobectomia foi o procedimento de escolha na maioria dos casos. Todos os tipos histológicos foram encontrados: 1 (70%, 2 (24%, 4 (4% e 0 e 3 (n = 1. Foi observado um padrão misto em nove pacientes. Foram encontradas anomalias associadas em 47% das crianças. A mais frequente foi sequestro (71%, mais presente na MACC tipo 2 (p = 0,001. As anomalias mais graves se relacionaram principalmente com o tipo 2 (p = 0,008. Também foram observados um blastoma pleuropulmonar e um carcinoma broncoalveolar. A mortalidade foi de 5% (n = 9. Os fatores de risco para mortalidade foram falência respiratória (OR = 25,7 [IC95% 3,2-221]; p = 0,03, sepse (OR = 9,9 [IC95% 8,2-12]; p = 0,002, necessidade de assistência respiratória (OR = 9,5 [IC95% 2,3-37]; p = 0,04 e diversas comorbidades associadas (OR = 3,3 [IC95% 1,2-22]; p = 0,008. CONCLUSÕES: Foram observadas anomalias relacionadas em quase metade da população. Devido à possibilidade de infecção recorrente ou desenvolvimento de neoplasias, deve-se considerar a ressecção cirúrgica quando MACC for diagnosticada. O desfecho cirúrgico é favorável e apresenta complicações tratáveis.OBJECTIVE: Congenital cystic adenomatoid malformation (CCAM is the most common surgically resected pulmonary malformation in children. This retrospective study was undertaken to present the experience of 172 CCAM cases in a pediatric hospital. METHODS: Published series with a small number of patients reports details of lesions, progress and management. As this study addresses clinical characteristics, progress and surgical procedures in 172 children with CCAM diagnosis, the population includes cases treated and followed up in a pediatric hospital throughout 25 years (1986-2011. RESULTS: Mean age at diagnosis was 48 months (r = 0.03-213, 52% (n = 90 were male. The most common presenting symptoms were respiratory distress in children under 6 months of age (40% and recurrent pneumonia in older ones (75%; p = 0.001. Lobectomy was the procedure of choice in the majority. All histological types were found: 1 (70%, 2 (24%, 4 (4%, and 0 and 3 (n = 1. A mixed pattern was observed in nine patients. Associated anomalies were found in 47% of children. The most frequent was sequestration (71%, mostly present in CCAM type 2 (p = 0.001. Severe anomalies were mostly related to type 2 (p = 0.008. A pleuropulmonary blastoma and a bronchioloalveolar carcinoma were also observed. Mortality was 5% (n = 9. Risk factors for mortality were respiratory failure (OR = 25.7 [95%CI 3.2-221]; p = 0.03, sepsis (OR = 9.9 [95%CI 8.2-12]; p = 0.002, respiratory assistance requirements (OR = 9.5 [95%CI 2.3-37]; p = 0.04, and severe associated comorbidities (OR = 3.3 [95%CI 1.2-22]; p = 0.008. CONCLUSIONS: Related anomalies were observed in almost half of the population. Due to the possibility of recurrent infection or development of malignancies, surgical resection should be considered when CCAM is diagnosed. Surgical outcome is favorable with manageable complications.

Verónica Giubergia

2012-04-01

291

Malformação adenomatoide cística congênita: características clínicas, conceitos patológicos e tratamento em 172 casos / Congenital cystic adenomatoid malformation: clinical features, pathological concepts and management in 172 cases  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: A malformação adenomatoide cística congênita (MACC) é a malformação pulmonar ressecada cirurgicamente mais comum em crianças. Este estudo retrospectivo foi realizado para apresentar a experiência de 172 casos de MACC em um hospital pediátrico. MÉTODOS: Séries publicadas com um pequeno núme [...] ro de pacientes relatam detalhes de lesões, evolução e tratamento. Como este estudo lida com características clínicas, evolução e procedimentos cirúrgicos em 172 crianças com diagnóstico de MACC, a população inclui casos tratados e acompanhados em um hospital pediátrico ao longo de 25 anos (1986-2011). RESULTADOS: A idade média ao diagnóstico foi de 48 meses (r = 0,03-213), 52% (n = 90) eram do sexo masculino. Os sintomas de apresentação mais comuns foram dificuldade respiratória em crianças com menos de 6 meses de idade (40%) e pneumonia recorrente nas que tinham mais idade (75%; p = 0.001). Lobectomia foi o procedimento de escolha na maioria dos casos. Todos os tipos histológicos foram encontrados: 1 (70%), 2 (24%), 4 (4%) e 0 e 3 (n = 1). Foi observado um padrão misto em nove pacientes. Foram encontradas anomalias associadas em 47% das crianças. A mais frequente foi sequestro (71%), mais presente na MACC tipo 2 (p = 0,001). As anomalias mais graves se relacionaram principalmente com o tipo 2 (p = 0,008). Também foram observados um blastoma pleuropulmonar e um carcinoma broncoalveolar. A mortalidade foi de 5% (n = 9). Os fatores de risco para mortalidade foram falência respiratória (OR = 25,7 [IC95% 3,2-221]; p = 0,03), sepse (OR = 9,9 [IC95% 8,2-12]; p = 0,002), necessidade de assistência respiratória (OR = 9,5 [IC95% 2,3-37]; p = 0,04) e diversas comorbidades associadas (OR = 3,3 [IC95% 1,2-22]; p = 0,008). CONCLUSÕES: Foram observadas anomalias relacionadas em quase metade da população. Devido à possibilidade de infecção recorrente ou desenvolvimento de neoplasias, deve-se considerar a ressecção cirúrgica quando MACC for diagnosticada. O desfecho cirúrgico é favorável e apresenta complicações tratáveis. Abstract in english OBJECTIVE: Congenital cystic adenomatoid malformation (CCAM) is the most common surgically resected pulmonary malformation in children. This retrospective study was undertaken to present the experience of 172 CCAM cases in a pediatric hospital. METHODS: Published series with a small number of patien [...] ts reports details of lesions, progress and management. As this study addresses clinical characteristics, progress and surgical procedures in 172 children with CCAM diagnosis, the population includes cases treated and followed up in a pediatric hospital throughout 25 years (1986-2011). RESULTS: Mean age at diagnosis was 48 months (r = 0.03-213), 52% (n = 90) were male. The most common presenting symptoms were respiratory distress in children under 6 months of age (40%) and recurrent pneumonia in older ones (75%; p = 0.001). Lobectomy was the procedure of choice in the majority. All histological types were found: 1 (70%), 2 (24%), 4 (4%), and 0 and 3 (n = 1). A mixed pattern was observed in nine patients. Associated anomalies were found in 47% of children. The most frequent was sequestration (71%), mostly present in CCAM type 2 (p = 0.001). Severe anomalies were mostly related to type 2 (p = 0.008). A pleuropulmonary blastoma and a bronchioloalveolar carcinoma were also observed. Mortality was 5% (n = 9). Risk factors for mortality were respiratory failure (OR = 25.7 [95%CI 3.2-221]; p = 0.03), sepsis (OR = 9.9 [95%CI 8.2-12]; p = 0.002), respiratory assistance requirements (OR = 9.5 [95%CI 2.3-37]; p = 0.04), and severe associated comorbidities (OR = 3.3 [95%CI 1.2-22]; p = 0.008). CONCLUSIONS: Related anomalies were observed in almost half of the population. Due to the possibility of recurrent infection or development of malignancies, surgical resection should be considered when CCAM is diagnosed. Surgical outcome is favorable with manageable complications.

Verónica, Giubergia; Marcelo, Barrenechea; Mónica, Siminovich; Hebe Gonzalez, Pena; Patricia, Murtagh.

2012-04-01

292

The association of congenital neuroblastoma and congenital heart disease  

International Nuclear Information System (INIS)

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

293

Morbilidad y mortalidad por malformaciones congénitas del sistema nervioso central en menores de un año / Morbidity and mortality caused by congenital malformations of the central nervous system in children under a year  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Se realizó un estudio descriptivo, transversal y retrospectivo durante 2012 de 46 pacientes con malformaciones congénitas del sistema nervioso central, pertenecientes a la provincia de Santiago de Cuba, con vistas a caracterizar aspectos relacionados con la morbilidad y la mortalidad por esta causa. [...] El municipio Santiago de Cuba fue el de mayor incidencia y la hidrocefalia la anomalía más frecuente; asimismo, la mortalidad fetal e infantil por estos defectos presentó tasas de 0,3 y 0,1, respectivamente. Se demostró que dichas malformaciones tienen baja incidencia en estos indicadores, lo cual confirma la importancia del diagnóstico prenatal Abstract in english A descriptive, cross-sectional and retrospective study was carried out during 2012 in 46 patients with congenital malformations of the central nervous system, belonging to Santiago de Cuba province, with the aim of characterizing aspects related to the morbidity and the mortality for this cause. San [...] tiago de Cuba municipality was that of higher incidence, and hydrocephaly the most frequent anomaly; also, the fetal and child mortality obtained for these defects showed rates of 0.3 and 0.1, respectively. It was demonstrated that this malformations have low incidence in these indicators, which confirms the importance of the prenatal diagnosis

Irina, Guzmán Sancho; Farah María, Ricardo Saint-Félix; Arianne, Muguercia Fornaris; Ricardo, García Álvarez; Suleidis, Vega Sams.

1671-16-01

294

Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4) (q25-->q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation.  

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A 7 year old boy with minor facial anomalies, the Rieger eye malformation, reduced vision, genital anomalies, and severe mental retardation had deletion of the segment 4q24-->q26. His phenotypically normal father had a balanced insertion of that segment into the distal long arm of chromosome 6: 46,XY,ins(6;4)(q26;q24q26). Microsatellite loci flanking the RIEG gene on 4q25 were deleted giving indirect evidence of deletion of this locus. This finding and the normal ocular findings in the insert...

Schinzel, A.; Brecevic, L.; Dutly, F.; Baumer, A.; Binkert, F.; Largo, R. H.

1997-01-01

295

Congenital malformations induced by ionizing radiation in mouse embryos: investigating molecular changes. Doctoral Thesis Prepared at SCK-CEN and Defended in 2006  

International Nuclear Information System (INIS)

Irradiation of the mammalian embryo during development results in diverse effects depending on the dose and the specific gestational phase at irradiation. In this work cellular and molecular changes associated with X-irradiation of embryos were therefore investigated at both early and late gestational stages at the moment of radiation exposure. Our goal was to find biological markers indicative of teratogenic effects of radiation, and provide a holistic model of the impact of irradiation during early and late development. In the first part of this doctoral thesis, we investigated telomere length in the irradiated and non-irradiated embryos bearing different p53 genotypes and malformation status as telomere shortening was associated with neural tube defects in mTR-/- embryos. Moreover, the loss of telomere function has been shown to elicit DNA damage checkpoints and p53-dependent apoptosis in vitro. We conclude that telomere shortening is associated with the malformation status as well with the p53 genotype. These data assign telomere length as a potential predictor of a malformed phenotype, a feature that is modulated according to the p53 genotype and the developmental stage at the moment of irradiation. In the second part of this work, we focused on a specific malformation phenotype, namely: forelimb defect. To identify potential genes involved in the radiation-induced forelimb teratogenesis, we investigated differential gene expression between irradiated and non-irradiated fetuses using RT-q-PCR. The results indicate that forelimb defects observed in p53 wild type fetuses irradiated at the organogenesis period was due to excessive cellular death as shown by the high expression of the pro-apoptotic factors caspase-3 and Bax. This suggestion was supported by the positive TUNEL assay performed on forelimb tissue sections of malformed irradiated fetuses. Moreover, overexpression in malformed fetuses of MKK3 and MKK7, both members of the stress-activated MAP kinase family, could be involved in radiation-induced apoptosis through activation of the p38 and JNK pathways, respectively. To further evaluate the biomarker value of telomere length in this forelimb defect phenotype, we assessed telomere length in normal fetuses versus abnormal ones with forelimb defects. We found that irradiated fetuses exhibiting forelimb defects showed a marked telomere shortening confirming our first findings, which showed an association between various malformations and telomere shortening. Knowing that oxidative stress and inflammation are potential accelerators of telomere attrition, and taking into account that amniotic fluid is the most accessible fetal material, we decided to explore cytokine secretion in the amniotic fluid of normal and malformed fetuses. Our results showed a considerable inflammatory reaction among the irradiated fetuses, as revealed by the high presence of pro-inflammatory cytokines. Finally, all these results indicate that insufficiency or excess of apoptosis is probably the central process behind radiation-induced malformations. Moreover, apoptosis is strongly related to p53, which upon signaling modulates cell death response according to the developmental stage at which exposure to radiation has occurred. Furthermore, in the context of this work, telomere shortening as well as the differential gene expression described and the high pro-inflammatory cytokines measured may constitute potential indicators of the teratogenic status of the embryos after radiation exposure

296

[Arteriovenous malformations].  

Science.gov (United States)

Arteriovenous malformations are serious high-flow vascular malformations. Four progressive stages have been described: dormancy, expansion, destruction and heart failure. Progression from one stage to another is not systematic but depends on events - physiological or traumatic, sometimes iatrogenic. Pulsed Doppler imaging of venous waveforms and magnetic resonance imaging (MRI) are the most informative examinations for both diagnosis and follow-up of arteriovenous malformations.Arteriography and angio-MRI help guide treatment decisions. Treatment of the malformation must not be envisioned until it reaches a symptomatic stage. It most often combines an endovascular procedures and wide surgical excision. A syndromic form must be considered in cases of systemic angioma. PMID:20206460

Naouri, Michael; Lorette, Gérard; Barbier, Charlotte; Zakine, Gilbert; Herbreteau, Denis

2010-04-01

297

Vascular malformations revisited.  

Science.gov (United States)

Vascular malformations are congenital anomalies that can affect each part of the vasculature. Combined forms are common and they are often part of complex syndromes. Most malformations are diagnosed during infancy, but some get obvious only later in life. The field of vascular malformations is emerging with recently described new entities and treatments. Still, misdiagnosis is common in this field, leading to nosologic confusion and wrong treatment. Clinical evaluation and imaging are the gold standard for diagnostic confirmation. Sclerotherapy and embolization are the main treatment techniques but are also used preoperatively to reduce blood loss and shrink the lesion if surgery is planned. Despite new treatment options, especially if extensive in size or involving vulnerable structures, vascular malformations are still considered chronic diseases and cause significant morbidity. Common understanding and agreement on terminology and a multidisciplinary approach are the basis of successful treatment and long-term support for these patients. Continuing research in the field of vascular anomalies will improve knowledge and create further treatment options. PMID:25537054

Clemens, Robert K; Pfammatter, Thomas; Meier, Thomas O; Alomari, Ahmad I; Amann-Vesti, Beatrice R

2015-01-01

298

Controversies in choledochal malformation  

Scientific Electronic Library Online (English)

Full Text Available SciELO South Africa | Language: English Abstract in english Choledochal malformations (some of which are choledochal cysts) may be characterised as an abnormal dilatation of the biliary tract in the absence of acute obstruction. Most appear to be of congenital origin, probably related to distal bile duct stenosis, and almost 15% can now be detected antenatal [...] ly. Excision and biliary reconstruction using a Roux loop as an open operation is still the standard to compare against, although laparoscopic reconstruction is increasingly reported. This article discusses recent advances in the understanding of choledochal malformation aetiology and classification, together with the role of newer modalites of surgical treatment such as laparoscopic excision and biliary reconstruction. Although these are definitely feasible, care should be taken before dispensing with standard open techniques that have minimal complications and proven long-term benefit.

J J, Atkinson; M, Davenport.

2014-11-01

299

ptk7 mutant zebrafish models of congenital and idiopathic scoliosis implicate dysregulated Wnt signalling in disease  

Science.gov (United States)

Scoliosis is a complex genetic disorder of the musculoskeletal system, characterized by three-dimensional rotation of the spine. Curvatures caused by malformed vertebrae (congenital scoliosis (CS)) are apparent at birth. Spinal curvatures with no underlying vertebral abnormality (idiopathic scoliosis (IS)) most commonly manifest during adolescence. The genetic and biological mechanisms responsible for IS remain poorly understood due largely to limited experimental models. Here we describe zygotic ptk7 (Zptk7) mutant zebrafish, deficient in a critical regulator of Wnt signalling, as the first genetically defined developmental model of IS. We identify a novel sequence variant within a single IS patient that disrupts PTK7 function, consistent with a role for dysregulated Wnt activity in disease pathogenesis. Furthermore, we demonstrate that embryonic loss-of-gene function in maternal-zygotic ptk7 mutants (MZptk7) leads to vertebral anomalies associated with CS. Our data suggest novel molecular origins of, and genetic links between, congenital and idiopathic forms of disease. PMID:25182715

Hayes, Madeline; Gao, Xiaochong; Yu, Lisa X; Paria, Nandina; Henkelman, R. Mark; Wise, Carol A.; Ciruna, Brian

2014-01-01

300

A study on the progression of congenital scoliosis and the experimental production of the congenital scoliosis induced by 60Co irradiation in rats  

International Nuclear Information System (INIS)

In order to clarify the pathological mechanism of the development of congenital spinal deformities, seventy six cases with congenital spinal deformity were analysed clinically, and vertebral anomalies were produced experimentally in rats of the Wistar strain by giving 60Co irradiation (200 R) to the mother in the ninth, tenth and eleventh days of the pregnancy. The congenital vertebral anomalies were classified embryologically into the following eight groups, (1) Wedge vertebra, (2) Fused wedge vertebra, (3) Hemivertebra, (4) Fused hemivertebra, (5) Unilateral segmental failure, (6) Bilateral segmental failure, (7) Butterfly vertebra and (8) Mixed type. Out of these anomalies, the unilateral segmental failure and the imbalanced multiple hemivertebrae and wedge vertebrae proved to show a marked development of the scoliotic deformities. Vertebral anomalies were confirmed in 26 of the 101 newborn infants whose mothers were treated with 60Co irradiation in the 10th or 11th day of the pregnancy. The vertebral anomalies were either unilateral segmental failure or butterfly vertebrae located mostly at the lower thoracic, lumbar or sacral spine. A scoliotic deformity of the spine developed during the rapid growth of the body in all rats with unilateral segmental failure. From the histological examinations, it was revealed that the asymmetrical potency of the growth in the malformed vertebra was a factor causing the spinal deformities. (auth.)he spinal deformities. (auth.)

 
 
 
 
301

VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin.  

Science.gov (United States)

The VATER/VACTERL association is typically defined by the presence of at least three of the following congenital malformations: vertebral anomalies, anal atresia, cardiac malformations, tracheo-esophageal fistula, renal anomalies, and limb abnormalities (13). We report a rare case of a monochorionic twin gestation in which one of the infants had VACTERL association. Antenatal ultrasound showed bilateral renal dysplasia and cardiac anomaly (ASD) in twin A. Twin A was noted to have the following anomalies: a single umbilical artery, limb anomaly (right hand preaxial polydactyly), vertebral anomalies (T9 and T11 butterfly vertebras, bilateral renal agenesis, bladder agenesis, anal and urethral atresia. A normal-sized stomach and normal amount of amniotic fluid were observed during the prenatal period with no other anomalies. Twin B (male) was healthy and no cardiac, renal, or congenital anomalies were demonstrated on ultrasound and physical examination. Infant A was also diagnosed as having VACTERL association because he had five of the core anomalies (V, A, C, R, L) of VACTERL association. Butterfly vertebra is an uncommon congenital spinal anomaly. To the best of our knowledge, our patient is the second case VACTERL association with butterfly vertebra in the literature. PMID:25059024

Sandal, G; Aslan, N; Duman, L; Ormeci, A R

2014-01-01

302

Congenital cystic lung diseases.  

Science.gov (United States)

Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis. PMID:23607074

Jain, Aditi; Anand, K; Singla, Saurabh; Kumar, Ashok

2013-01-01

303

Congenital Cystic Lung Diseases  

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Congenital cystic diseases of the lung are a rare but significant cause of morbidity in children and young adults presenting with respiratory distress and repeated chest infections. They consist of cystic adenomatoid malformation, bronchogenic cyst, pulmonary sequestration, and congenital lobar emphysema. Surgical treatment is a safe and an effective method of treatment. Chest X-ray and computed tomography are the key imaging modalities used for diagnosis.

Jain, Aditi; Anand, K.; Singla, Saurabh; Kumar, Ashok

2013-01-01

304

Surgical treatment of congenital thoracolumbar spondyloptosis in a 2-year-old child with vertebral column resection and posterior-only circumferential reconstruction of the spine column: case report.  

Science.gov (United States)

Spondyloptosis refers to complete dislocation of a vertebral body onto another. The L5-S1 level is frequently affected. As this condition is rare, few published reports describing its clinical features and surgical outcomes exist, especially in the pediatric patient population. The authors report the presentation, pathological findings, and radiographic studies of a 2-year-old girl who presented to Texas Children's Hospital with a history since birth of progressive spastic paraparesis. Preoperative CT and MRI showed severe spinal cord compression associated with T11-12 spondyloptosis. The patient underwent a single-stage posterior approach for complete resection of the dysplastic vertebral bodies at the apex of the spinal deformity with reconstruction and stabilization of the vertebral column using a titanium expandable cage and pedicle screws. At the 12-month follow-up, the patient remained neurologically stable without any radiographic evidence of instrumentation failure or loss of alignment. To the best of the authors' knowledge, there have been only 2 other children with congenital thoracolumbar spondyloptosis treated with the above-described strategy. The authors describe their case and review the literature to discuss the aggregate clinical features, surgical strategies, and operative outcomes for congenital thoracolumbar spondyloptosis. PMID:25495210

Gressot, Loyola V; Mata, Javier A; Luerssen, Thomas G; Jea, Andrew

2015-02-01

305

Incidencia de labio leporino y paladar hendido en la Maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) período 1991-1999 Incidence of orofacial cleft in the University of Chile Maternity Hospital and other hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC)  

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Background: ECLAMC is a registry, aimed to assess the incidence of congenital malformations, that started in 1967 and Chile incorporated to it in 1969. Aim: To report the incidence of cleft lip/palate, updated to 1999 in the University of Chile Maternity Hospital and other Chilean hospitals participating in the ECLAMC. Patients and methods: A review of the ECLAMC database that registers all births or stillbirths of more than 500 g. Results: The incidence of orofacial ...

Julio Nazer H.; María Eugenia Hubner G; Jorge Catalán M; Lucía Cifuentes O.

2001-01-01

306

Características das crianças nascidas com malformações congênitas no município de São Luís, Maranhão, 2002-2011 / Characteristics of children born with congenital malformations in São Luís, Maranhão, Brazil, 2002-2011  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: descrever as características dos nascidos vivos com malformação congênita em São Luís-MA, Brasil, no período de 2002 a 2011. MÉTODOS: estudo descritivo baseado nos dados do Sistema de Informações sobre Nascidos Vivos (Sinasc). RESULTADOS: dos 180.298 nascidos vivos, 875 (0,49%) apre [...] sentaram algum tipo de malformação, principalmente do aparelho osteomuscular (48,0%); os nascidos vivos, em sua maioria, foram a termo (83,7%), com peso adequado (76,4%), do sexo masculino (54,9%) e com escores de Apgar satisfatórios no 1o (71,3%) e 5o minutos (88,9%), nascidos de mães na faixa etária de 20 a 34 anos (71,6%), solteiras (62,5%), com 8 a 11 anos de estudo (58,7%), de gravidez única (97,9%) e por parto cesáreo (54,8%). CONCLUSÃO: observou-se aumento na frequência de casos registrados no período estudado; entretanto, sugere-se a realização de novos estudos para que seja possível esclarecer se ocorreu melhoria do sistema de notificação ou aumento dos casos. Abstract in english OBJECTIVE: to describe the characteristics of children born with congenital malformations in São Luis-MA, Brazil, between 2002-2011. METHODS: a descriptive study using data from the Live Birth Information System. RESULTS: 875 (0.49%) of the 180,298 live births in the period had some type of m [...] alformation, mostly in the musculoskeletal system. The main findings were: mothers in the 20-34 age group (71.6%), single mothers (62.5%), mothers with 8-11 years of education (58.7%), only one pregnancy (97.9%) and cesarean delivery (54.8%). Newborns were mostly term (83.7%), normal weight (76.4%), male (54.9%) and satisfactory Apgar scores at the 1st (71.3%) and 5th minute (88.9%). CONCLUSION: congenital malformations continue to be a public health problem. In this study it was observed that during the study period there was an increase in reported case frequency. However, we suggest further studies be conducted to clarify whether the notification system improved or there was an increase in cases.

Lívia dos Santos, Rodrigues; Rômulo Henrique da Silva, Lima; Luciana Cavalcante, Costa; Rosângela Fernandes Lucena, Batista.

2014-06-01

307

Rib defects in patterns of multiple malformations: a retrospective review and phenotypic analysis of 47 cases.  

Science.gov (United States)

Rib anomalies may occur in isolation, as well as in association with abnormalities of vertebral segmentation and multi-system malformations. Specific entities include the VACTERL and MURCS associations, spondylocostal dysostosis, and spondylothoracic dysostosis. The relative significance of rib anomalies in other lesser known syndromes and associations remains unclear. To document the diagnoses and related defects in patients with rib anomalies as part of broader pattern of anomalies, we retrospectively identified 47 cases from a hospital population, and evaluated specific costal findings and associated birth defects. In our study, fusion was the most common pattern of rib anomaly (72%), followed by bifid (28%) and hypoplastic ribs (26%). Unrecognized patterns of multiple congenital anomalies (MCA) and VACTERL association were the commonest specific diagnoses with a frequency of 30 and 28%, respectively. An associated vertebral defect was found in 72% of the patients. Of those with no vertebral anomaly, the combinations of "rib and cardiac defects alone" and "rib and renal defects alone" were seen in one-third of the patients (4/13). Both the occurrence and type of rib anomaly were helpful in defining certain syndromes and enhanced the likelihood of identifying related malformations. PMID:12949975

Wattanasirichaigoon, Duangrurdee; Prasad, Chitra; Schneider, Gretchen; Evans, Jane A; Korf, Bruce R

2003-09-15

308

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

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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 those with Chiari 1 malformation. Characteristic imaging features of complex Chiari malformation, especially obex level, permit its distinction from the more common uncomplicated Chiari 1 malformation. (orig.)

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

309

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

International Nuclear Information System (INIS)

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 those with Chiari 1 malformation. Characteristic imaging features of complex Chiari malformation, especially obex level, permit its distinction from the more common uncomplicated Chiari 1 malformation. (orig.)

310

El riesgo de malformaciones congénitas y defectos de la programación genómica, en relación con las técnicas de reproducción asistida y la clonación The risk of congenital malformations and genomic imprinting defects in assisted reproductive technologies and nuclear transfer cloning  

Directory of Open Access Journals (Sweden)

Full Text Available Recent studies show that assisted reproductive technologies (ART, whether in vitro fertilization (IVF or intra-cytoplasmatic sperm injection (ICSI or applied to cloning by somatic cell nuclear transfer (SCNT are associated to a higher risk of congenital malformations and errors in deprogramming, maintenance or reprogramming genomic imprinting in humans and animals. IVF and ICSI are also associated to an increased admission to neonatal intensive care units and more need for health care resources in infancy. A mutagenic effect of a chemical used in SCNT has been reported and gene depression was found in bovine embryos obtained by IVF or SCNT. The causes of these anomalies could be pathological conditions for which ART is applied, a direct effect of technologies on the zygotes or embryos, avoidance for zygotes or embryos of the oviduct path that is needed to elicit necessary immunity or genomic programming processes, or adaptive selective steps acquired during thousands of millions of generations in evolution. The knowledge of evolution is emphasized as essential in the scientific ethical analysis (Rev Méd Chile 2005; 133: 1075-80.

Carlos Y Valenzuela

2005-09-01

311

El riesgo de malformaciones congénitas y defectos de la programación genómica, en relación con las técnicas de reproducción asistida y la clonación / The risk of congenital malformations and genomic imprinting defects in assisted reproductive technologies and nuclear transfer cloning  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Recent studies show that assisted reproductive technologies (ART), whether in vitro fertilization (IVF) or intra-cytoplasmatic sperm injection (ICSI) or applied to cloning by somatic cell nuclear transfer (SCNT) are associated to a higher risk of congenital malformations and errors in deprogramming, [...] maintenance or reprogramming genomic imprinting in humans and animals. IVF and ICSI are also associated to an increased admission to neonatal intensive care units and more need for health care resources in infancy. A mutagenic effect of a chemical used in SCNT has been reported and gene depression was found in bovine embryos obtained by IVF or SCNT. The causes of these anomalies could be pathological conditions for which ART is applied, a direct effect of technologies on the zygotes or embryos, avoidance for zygotes or embryos of the oviduct path that is needed to elicit necessary immunity or genomic programming processes, or adaptive selective steps acquired during thousands of millions of generations in evolution. The knowledge of evolution is emphasized as essential in the scientific ethical analysis (Rev Méd Chile 2005; 133: 1075-80).

Carlos Y, Valenzuela.

1075-10-01

312

Chiari I malformation: A missed diagnosis  

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Chiari I malformation is a complex congenital malformation of the hindbrain, characterized by herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal. There may be mild caudal displacement and flattening or kinking of the medulla with an associated small posterior fossa. We present a case of a 30 year old man who presented with a 2 year history of worsening nystagmus and ataxia with associated occipital headache and diplopia. Examination showed a young ...

Shehu B; Ismail N.; Mahmud M; Hassan I

2006-01-01

313

Obstetric outcomes in women with mullerian duct malformations  

Directory of Open Access Journals (Sweden)

Conclusions: Women with congenital uterine malformation usually have higher incidence of complications during pregnancy and delivery. Early diagnosis and treatment can improve obstetric outcomes. [Int J Reprod Contracept Obstet Gynecol 2014; 3(1.000: 127-133

Padmasri Ramalingappa

2014-02-01

314

Congenital lobar emphysema.  

Directory of Open Access Journals (Sweden)

Congenital lobar emphysema is a very rare congenital cystic malformation of the lung that can cause acute respiratory distress in early life. This paper reviews 6 cases of congenital lobar emphysema seen over a period of 10 years. The medical records of children with the diagnosis of congenital lobar emphysema were retrospectively reviewed for age at diagnosis, sex, presenting symptoms, investigations, treatment and outcome. There were 4 males and 2 females, and all of them presented before 6 months of age. Three presented with recurrent chest infection, while the other 3 had acute respiratory distress soon after birth. In all, the diagnosis was confirmed by chest x-ray, and the left upper lobe was affected in all of them. Although congenital lobar emphysema is rare, clinical awareness of this condition is important for early diagnosis and effective surgical treatment.

Ahmed H. Al-Salem

2002-03-01

315

Management of perinatal lung malformations.  

Science.gov (United States)

This review uses the most up--to--date literature to help guide obstetrical providers through the diagnosis and management of perinatal lung malformations. These lesions, which include congenital pulmonary airway malformation [CPAM, formerly congenital cystic adenomatoid malformation (CCAM)] and bronchopulmonary sequestration (BPS), are relatively rare but are becoming increasingly common because of the improved resolution and enhanced sensitivity of fetal ultrasound. Serial assessment throughout pregnancy remains the norm rather than the exception. Perinatal management strategies can differ based on the sonographic characteristics and dynamic growth patterns of lung masses. Fetal magnetic resonance imaging and other diagnostic testing can sometimes be helpful in providing additional prognostic information. Over the last decade, the importance of echocardiography and utility of maternal steroids have been recognized in cases of nonimmune hydrops. Fetal surgery is now rarely performed. Decisions regarding whether delivery of these fetuses should occur in a tertiary care center with pediatric surgery coverage versus delivery at a local community hospital are now highly relevant in most prenatal counseling discussions with families. Large lung malformations may require urgent surgical removal in the early postnatal period because of respiratory distress. Other complications, such as recurrent pneumonia, pneumothorax, and cancer, are indications for lung resection on an elective basis. In the vast majority of cases, the overall prognosis remains excellent. PMID:25310108

Macardle, C A; Kunisaki, S M

2014-10-13

316

Congenital cystic lesions of the lung.  

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Congenital cystic lesions of the lung are present in 1 in 10,000-35,000 births and present as a spectrum of anomalies. Majority of these cystic lesions comprise congenital cystic adenomatoid malformations, pulmonary sequestrations, congenital lobar emphysema, and bronchogenic cysts. Most of these lesions are nowadays detected antenatally, however some will present either in the newborn or during later childhood. A review of the aetiology, classification, natural history, investigations, and treatment of congenital cystic lung lesions is discussed. PMID:25448785

Durell, Jonathan; Lakhoo, Kokila

2014-12-01

317

Vertebrate skeletogenesis.  

Science.gov (United States)

Vertebrate skeletogenesis consists in elaborating an edifice of more than 200 pieces of bone and cartilage. Each skeletal piece is crafted at a distinct location in the body, is articulated with others, and reaches a specific size, shape, and tissue composition according to both species instructions and individual determinants. This complex, customized body frame fulfills multiple essential tasks. It confers morphological features, allows controlled postures and movements, protects vital organs, houses hematopoiesis, stores minerals, and adsorbs toxins. This review provides an overview of the multiple facets of this ingenious process for experts as well as nonexperts of skeletogenesis. We explain how the developing vertebrate uses both specific and ubiquitously expressed genes to generate multipotent mesenchymal cells, specify them to a skeletogenic fate, control their survival and proliferation, and direct their differentiation into cartilage, bone, and joint cells. We review milestone discoveries made toward uncovering the intricate networks of regulatory factors that are involved in these processes, with an emphasis on signaling pathways and transcription factors. We describe numerous skeletal malformation and degeneration diseases that occur in humans as a result of mutations in regulatory genes, and explain how these diseases both help and motivate us to further decipher skeletogenic processes. Upon discussing current knowledge and gaps in knowledge in the control of skeletogenesis, we highlight ultimate research goals and propose research priorities and approaches for future endeavors. PMID:20691853

Lefebvre, Véronique; Bhattaram, Pallavi

2010-01-01

318

Aneurysmal Malformation of Galen Vein: A Case Report  

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Introduction: Vein of Galen aneurismal malformation (VGAM) is a rare congenital vascular malformation Characterized by shunting of arterial flow into en-larged cerebral vein, dorsal to the tectum that consti-tute approximately 1% of all intracranial vascular le-sions, however they represent 30% of vascular mal-formations in the pediatric groups."nCase Presentation: A Ten-month old male infant pre-sented to the pediatric physician by increase in the head circumference. There were no sympt...

Alizadeh, A.; Sh. Yousefzadeh

2008-01-01

319

Persistent congenital milia with naevus spilus  

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We are reporting a case of solitary persistent left-sided endoareolar congenital milia in association with no serious malformation or abnormality of any structure except the presence of naevus spilus, on the back of the ipsilateral forearm.

Mishra Dharmendra; Singh Arun

1995-01-01

320

Association between congenital malformation and neonatal and maternal variables in neonatal units of a Northeast Brazilian city / Associação das malformações congênitas com variáveis neonatais e maternas em unidades neonatais numa cidade do Nordeste brasileiro / Associación de las malformaciones congénitas con variables neonatais y maternas en unidades neonatales de una ciudad del Nordeste brasileño  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese Malformações congênitas ocorrem devido a fatores genéticos, ambientais, mistos ou causas desconhecidas. Objetivou-se investigar a existência de relação entre tipo de malformação congênita e variáveis neonatais e maternas. Estudo prospectivo, quantitativo, realizado em três unidades neonatais pública [...] s em Fortaleza-CE, Brasil. Os dados foram colhidos dos prontuários de 159 neonatos malformados, analisados por meio do teste de Qui-quadrado (?2), nível de significância de 5% (p Abstract in spanish Malformaciones congénitas ocurrir debido a factores genéticos, ambientales, mistos o por causas desconocidas. Se objetivó investigar la relación entre tipo de malformación congénita, variables neonatales y maternas. Estudio prospectivo, cuantitativo, realizado en tres unidades neonatales públicas en [...] Fortaleza-CE, Brasil. Los datos fueron recolectados del sistema de registro de 159 recién nacidos malformados y analizados por medio del test Chi cuadrado (?2), nivel de significancia de 5% (p Abstract in english Congenital malformations occur due to genetic, environmental, and mixed factors or unknown causes. This study aimed to investigate the existence of a relationship between the type of congenital malformation and maternal and neonatal variables. This prospective, quantitative study was conducted in th [...] ree public neonatal units in Fortaleza, Ceará, Brazil. Data were collected from the medical records of 159 malformed neonates and analyzed using the Chi-square test (?2), significance level of 5% (p

Fabíola Chaves, Fontoura; Maria Vera Lúcia Moreira Leitão, Cardoso.

2014-12-01

 
 
 
 
321

Comparación entre el diagnóstico prenatal y anatomopatológico de las anomalías congénitas / Correlation between prenatal diagnosis of congenital malformations and pathological studies  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Se realizó un estudio descriptivo retrospectivo de 358 necropsias de fetos, mortinatos y neonatos, analizadas en el Departamento de Anatomía Patológica del hospital ginecoobstétrico “Ramón González Coro”, de Ciudad de La Habana, entre los años 1996 y 2004. Fueron descartados 144 casos que no cumplía [...] n los criterios de inclusión. Las anomalías encontradas se clasificaron sobre la base del sistema anatómico mayor afectado. Se comparó la información obtenida del examen sonográfico y el anatomopatológico, con el objetivo de establecer la relación entre el diagnóstico prenatal por ultrasonido y el estudio necrópsico. La coincidencia diagnóstica entre ambos métodos de estudio fue del 82,41 %. El grupo de malformaciones encontrado con mayor frecuencia en las necropsias, fueron las cerebroespinales, con un 30,99 %, de las cuales el 13,61 % eran defectos del tubo neural. En este grupo, el 100 % de las anencefalias se diagnosticó sonográficamente y el 73 % de las espinas bífidas. Evaluando posteriormente a partir del examen ultrasonográfico, se encontraron 199 casos con diagnóstico de una malformación específica y el sistema mayormente afectado, fue el cerebroespinal (34,14 %). De estos diagnósticos positivos, 133 casos revelaron hallazgos necrópsicos idénticos (81,1 %), y fueron las anomalías cerebroespinales y las cardiovasculares las que mostraron mayor exactitud diagnóstica. En 31 casos se describieron hallazgos adicionales, para un 18,9 % y de ellos, 54,83 % tuvieron significado clínico. El diagnóstico prenatal se realizó antes de las 26 semanas de gestación en el 81,4 % y en el 18,6 %, después que la paciente sobrepasó las 26 semanas. Abstract in english This is a retrospective study of 358 necropsies of stilbirths and newborns, performed at the Pathological Department of the “Ramón González Coro” Hospital, in Havana, between 1996 and 2004. Anomalies found were classified according to the major anatomic system affected. The aim of the study was to c [...] ompare the ultrasound prenatal diagnosis and the pathological findings after the necropsy. In 82,41 % of the cases, there was a coincidence between the two methods. Brain and spinal anomalies were the most frequent (30,99 %). In this group, ultrasound examination identified all cases of anencephaly and 73% of cases with spina bifida. The correlation between ultrasound examination and necropsy was higher in cases of brain and cardiovascular malformations. Prenatal diagnosis was done before 26 weeks gestation in 81,4 % of cases.

Victoria Marinella, Rivera Martínez; Celia, Llanusa Ruiz; Rita, Sánchez Lombana; Lourdes, Carrillo Bermúdez; Lidia, Rodríguez Peña; Alfredo, Nodarse Rodríguez; José María, Pérez Penco; Raimundo, Capote Arce; Dagnelia, Castillo; Juan Carlos, Ramiro; José, Oliva Rodríguez.

2007-04-01

322

Congenital Pseudohorseshoe Lung Associated with Scimitar Syndrome  

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Horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. This malformation consists of fusion of both pulmonary lobes from the posterobasal segments. The fusion appears in the retrocardiac area, in front of the esophagus and thoracic aorta. Pleural separation of pulmonary lobes distinguishes pseudohorseshoe appearance from a true horseshoe lung. Scimitar syndrome known as hypogenetic lung syndrome is a part of the congenital pulmonary venolobar ...

Alptekin Tosun; Serife Leblebisatan

2012-01-01

323

Periodicity and time trends in the prevalence of total births and conceptions with congenital malformations among Jews and Muslims in Israel, 1999-2006: a time series study of 823,966 births.  

Science.gov (United States)

BACKGROUND Congenital malformations (CMs) are a leading cause of infant disability. Geophysical patterns such as 2-year, yearly, half-year, 3-month, and lunar cycles regulate much of the temporal biology of all life on Earth and may affect birth and birth outcomes in humans. Therefore, the aim of this study was to evaluate and compare trends and periodicity in total births and CM conceptions in two Israeli populations. METHODS Poisson nonlinear models (polynomial) were applied to study and compare trends and geophysical periodicity cycles of weekly births and weekly prevalence rate of CM (CMPR), in a time-series design of conception date within and between Jews and Muslims. The population included all live births and stillbirths (n = 823,966) and CM (three anatomic systems, eight CM groups [n = 2193]) in Israel during 2000 to 2006. Data were obtained from the Ministry of Health. RESULTS We describe the trend and periodicity cycles for total birth conceptions. Of eight groups of CM, periodicity cycles were statistically significant in four CM groups for either Jews or Muslims. Lunar month and biennial periodicity cycles not previously investigated in the literature were found to be statistically significant. Biennial cycle was significant in total births (Jews and Muslims) and syndactyly (Muslims), whereas lunar month cycle was significant in total births (Muslims) and atresia of small intestine (Jews). CONCLUSION We encourage others to use the method we describe as an important tool to investigate the effects of different geophysical cycles on human health and pregnancy outcomes, especially CM, and to compare between populations. PMID:22535569

Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

2012-06-01

324

High Prevalence of Associated Birth Defects in Congenital Hypothyroidism  

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Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

Alok Sachan

2010-01-01

325

Pulmonary sequestration with histologic changes of cystic adenomatoid malformation  

International Nuclear Information System (INIS)

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

326

Pulmonary sequestration with histologic changes of cystic adenomatoid malformation  

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

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

1989-01-01

327

Congenital heart defects in children with oral clefts  

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  Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referre...

Nahvi H.; Mollaeian M; Kazemian F; Hoseinpoor M; Keiani A; Khatami F; Khorgami Z; Goodarzi M; Ebrahim Soltani A; ahmadi J.

2007-01-01

328

The Chiari malformations: A review with emphasis on anatomical traits.  

Science.gov (United States)

Hindbrain herniations come in many forms and have been further subdivided as their original descriptions. For cerebellar tonsillar ectopia, they can be divided into two categories, acquired and congenital. Acquired hindbrain herniations are due to increased intracranial pressure caused by certain conditions such as trauma or brain tumor. Although the mechanism for their formation is not clear, congenital hindbrain herniation makes up the majority of these congenital malformations. Furthermore, these malformations are often found to harbor additional anatomical derailments in addition to the hindbrain herniation whether it be the cerebellar tonsils (Chiari I malformation) or the cerebellar vermis (Chiari II malformation). This article reviews these forms of cerebellar ectopia and describes the details of their anomalous anatomy. Moreover, this article compares and contrasts the differing embryological theories found in this literature. Clin. Anat. 28:184-194, 2015. © 2014 Wiley Periodicals, Inc. PMID:25065525

Cesmebasi, Alper; Loukas, Marios; Hogan, Elizabeth; Kralovic, Sara; Tubbs, R Shane; Cohen-Gadol, Aaron A

2015-03-01

329

Human malformations induced by environmental noxae  

International Nuclear Information System (INIS)

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)

330

Congenital tracheobiliary fistula in an adolescent patient.  

Science.gov (United States)

Congenital tracheobiliary fistula is a rare malformation that allows communication between the respiratory system and hepatobiliary tract. We describe a male adolescent patient who was admitted with a destroyed lung caused by repetitive bile pneumonitis with a congenital tracheobiliary fistula. Left pneumonectomy was performed, and the fistula tract was successfully divided. PMID:25555959

Kim, Ju Sang; Suh, Jong Hui; Park, Chan Beom; Yoon, Jeong Seob

2015-01-01

331

Congenital cystic lesions of the biliary tree  

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OBJECTIVE: The purpose of this essay is to illustrate the imaging findings of congenital cystic lesions of the biliary tract. CONCLUSION: Congenital cystic lesions of the biliary tract include ductal plate malformations and choledochal cysts and can be recognized with characteristic imaging findings and basic knowledge of the embryologic development of the biliary tree.

Santiago, I.; Loureiro, R.; Curvo-semedo, L.; Marques, C.; Tarda?guila, F.; Matos, C.; Caseiro-alves, F.

2012-01-01

332

Reconstruction of middle ear malformations  

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

Schwager, Konrad

2007-01-01

333

Three-dimensional computed tomography in the assessment of congenital scoliosis  

International Nuclear Information System (INIS)

Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

334

Three-dimensional computed tomography in the assessment of congenital scoliosis  

Energy Technology Data Exchange (ETDEWEB)

Objective. Patients with congenital vertebral anomalies frequently are afflicted with kyphoscoliosis, with the curvatures often being severe and progressive. Spinal fusion almost always is the treatment of choice in such patients. This report examines the use of three-dimensional computed tomography (3D CT) in the preoperative investigation of patients with congenital scoliosis.Design and patients. Twelve spinal CT examinations on 11 pediatric patients with congenital scoliosis underwent image processing to produce 3D images. The 3D images were compared with both the axial sections from the CT examinations and multiplanar reformations with regard to the detection of malformations liable to cause progression of scoliosis (i. e., hemivertebrae and unsegmented bars).Results and conclusions. In six of the 12 cases, the 3D images provided improved depiction of the congenital anomalies and their interrelationships compared with planar CT images. This work suggests that 3D CT can be a useful tool in the assessment of patients with congenital scoliosis. (orig.)

Bush, C.H. [Department of Radiology, University of Florida College of Medicine, Gainesville, FL (United States); Kalen, V. [Department of Orthopedics, University of Florida College of Medicine, Gainesville, FL 32610 (United States)

1999-11-01

335

Radiological findings in congenital cystic disease of the lung in infancy  

International Nuclear Information System (INIS)

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

336

Congenital Diaphragmatic Hernia  

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Abstract Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointes...

Tovar Juan A

2012-01-01

337

Épidemiologie des malformations congénitales apparentes á Lubumbashi  

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Full Text Available Background : Lubumbashi, Chef-lieu de la Province du Katanga, l’une des onze provinces de la République Démocratique du Congo, connaît actuellement une situation sanitaire préoccupante liée à une pollution grandissante due à beaucoup des polluants d’origine minière (exploitation industrielle et artisanale. Ces polluants peuvent conduire à des accidents sanitaires, l’un d’eux étant les malformations congénitales. L’objectif visé est la détermination du taux de prévalence des malformations congénitales dans les hôpitaux généraux de référence de la ville de Lubumbashi de 2004 à 2011.Méthodes : Pour réaliser cette étude, nous avons utilisé la méthode d’observation rétrospective à visé descriptive cette étude a été basée sur la fouille documentaire (registre et autres documents. La population ciblée par cette étude est constituée essentiellement des nouveau- nés issus des structures sanitaires susmentionnées et porteurs d’une malformation congénitale apparente.Résultats : sur un total de 66.492Naissances vivantes observées durant la période susmentionnée (8ans, 449 Cas de malformations ont été diagnostiqué soit un taux de malformation de 0,67%.Elles touchent plus le système nerveux central avec 51.1%. Les malformations des membres représentent 13,1%.Conclusions : les malformations sont une réalité indéniable à Lubumbashi avec une prédilection sur le système nerveux central.ABSTRACT Background: Lubumbashi, Capital city of Katanga Province, is one of the eleven provinces of the Democratic Republic of Congo. This city is currently experiencing poor health outcomes associated with increasing pollution due to many pollutants from mining (industrial and artisanal. These pollutants can lead to health accidents, one of them being the birth defects. The objective of this study was to determine the prevalence of congenital malformations in the general referral hospitals in the city of Lubumbashi from 2004 to 2011.Methods: retrospective observational method was used. This descriptive study was based on literature search (register and other documents. The target study population consisted mainly of newborns from the above health facilities and having an apparent congenital malformation.Results: Out of 66.492 live births during the above period (8 years, 449 birth defect cases were diagnosed giving a malformation rate of 0.67%. They affect more central nervous system (in 51.1% of cases followed by the malformations of the extremities (in 13.1%.Conclusions: malformations are really in Lubumbashi with a predilection on the central nervous system.

Lambert Longombe Ndjate

2013-05-01

338

Congenital scoliosis - Quo vadis?  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient?s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the armamentarium of the spinal surgeon in dealing with certain difficult congenital spinal deformities. The goal of growing rod treatment is to provide simultaneous deformity correction and allow for continued spinal growth. Once maximal spinal growth has been achieved, definitive fusion and instrumentation is performed.

Debnath Ujjwal

2010-01-01

339

Incidencia de labio leporino y paladar hendido en la Maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC) período 1991-1999 / Incidence of orofacial cleft in the University of Chile Maternity Hospital and other hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC)  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english Background: ECLAMC is a registry, aimed to assess the incidence of congenital malformations, that started in 1967 and Chile incorporated to it in 1969. Aim: To report the incidence of cleft lip/palate, updated to 1999 in the University of Chile Maternity Hospital and other Chilean hospitals particip [...] ating in the ECLAMC. Patients and methods: A review of the ECLAMC database that registers all births or stillbirths of more than 500 g. Results: The incidence of orofacial cleft, at the University of Chile Maternity Hospital, in the period 1991-1999 was 17.8 per 10000 (12.6 for cleft lip and 5.2 for cleft palate). The incidence in the rest of participating hospitals was 12.04 and 4.6 respectively. Males had a higher incidence of cleft lip and 80% of children with cleft palate, had other malformations, most of them as part of a syndrome (13 and 18 trisomy, holoproscencephalia, Pierre Robin, Apert en EE syndromes, anencephaly etc). In three of 12 children with cleft lip but without cleft palate, there was a relative with the same malformation. Conclusions: It is proposed that both entities, cleft lip with or without cleft palate and cleft palate without cleft lip, are two etiopathogenically different conditions (Rev Méd Chile 2001; 129: 285-93).

Julio, Nazer H; María Eugenia, Hubner G; Jorge, Catalán M; Lucía, Cifuentes O.

2001-03-01

340

Incidencia de labio leporino y paladar hendido en la Maternidad del Hospital Clínico de la Universidad de Chile y en las maternidades chilenas participantes en el Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC período 1991-1999 Incidence of orofacial cleft in the University of Chile Maternity Hospital and other hospitals participating in the Latin American Collaborative Study of Congenital Malformations (ECLAMC  

Directory of Open Access Journals (Sweden)

Full Text Available Background: ECLAMC is a registry, aimed to assess the incidence of congenital malformations, that started in 1967 and Chile incorporated to it in 1969. Aim: To report the incidence of cleft lip/palate, updated to 1999 in the University of Chile Maternity Hospital and other Chilean hospitals participating in the ECLAMC. Patients and methods: A review of the ECLAMC database that registers all births or stillbirths of more than 500 g. Results: The incidence of orofacial cleft, at the University of Chile Maternity Hospital, in the period 1991-1999 was 17.8 per 10000 (12.6 for cleft lip and 5.2 for cleft palate. The incidence in the rest of participating hospitals was 12.04 and 4.6 respectively. Males had a higher incidence of cleft lip and 80% of children with cleft palate, had other malformations, most of them as part of a syndrome (13 and 18 trisomy, holoproscencephalia, Pierre Robin, Apert en EE syndromes, anencephaly etc. In three of 12 children with cleft lip but without cleft palate, there was a relative with the same malformation. Conclusions: It is proposed that both entities, cleft lip with or without cleft palate and cleft palate without cleft lip, are two etiopathogenically different conditions (Rev Méd Chile 2001; 129: 285-93.

Julio Nazer H

2001-03-01

 
 
 
 
341

Profiles in congenital heart disease  

International Nuclear Information System (INIS)

Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

342

Arteriovenous Malformations and Other Vascular Malformation Syndromes  

Science.gov (United States)

Vascular malformations are a disruption of the normal vascular pattern in which it is expected that a capillary network of microscopic vessels lies interposed between high-pressure arteries that deliver blood and thin-walled veins that collect low-pressure blood for return to the heart. In the case of arteriovenous malformations, arteries or arterioles connect directly to the venous collection system, bypassing any capillary bed. Clinical consequences result from rupture and hemorrhage, from dramatically increased blood flow, or from the loss of capillary functions such as nutrient exchange and filtering function. These malformations can occur sporadically or as a component of inherited vascular malformation syndromes. In these and other hereditary vascular malformation syndromes, genetic studies have identified proteins and pathways involved in vascular morphogenesis and development. A common theme observed is that vascular malformations result from disruption in pathways involved in vascular stability. Here we review the vascular malformations and pathways involved in hereditary hemorrhagic telangiectasia, capillary malformation–arteriovenous malformation, cerebral cavernous malformations, and mucocutaneous venous malformations. PMID:23125071

Whitehead, Kevin J.; Smith, Matthew C. P.; Li, Dean Y.

2013-01-01

343

[Superficial venous malformations].  

Science.gov (United States)

Superficial venous malformations are part of a larger group now called superficial vascular anomalies and previously known as angiomas. These include vascular tumors or infantile hemangioma, low-flow vascular malformations (capillary, lymphatic, and superficial venous malformations) and high-flow vascular malformations (arteriovenous malformations). Some of these lesions are complex. This classification facilitates their multidisciplinary therapeutic management. Embolization is an effective curative treatment for malformations of small and intermediate size. The objective for large or complex malformations is to restore anatomic function and improve cosmetic results. PMID:20304597

Barbier, Charlotte; Martin, Arnaud; Papagiannaki, Chrisanti; Cottier, Jean-Philippe; Lorette, Gérard; Herbreteau, Denis

2010-04-01

344

Methods of examination, anatomy, and congenital malformations  

International Nuclear Information System (INIS)

It is generally agreed that the radiographic examination of the chest, the most frequently performed radiographic examination (30% to 50% of all examinations), is extremely important in the diagnosis of pulmonary disease. Its value is equally great in the diagnosis of diseases of the mediastinum and bony thorax. Furthermore, it is a very cost-effective study. The chest roentgenogram serves as a record of the presence or absence of disease on the date it was taken, and follow-up examinations can show progress or development of disease. On the other hand, the chest roentgenogram should not supplant routine physical examination and clinical history even though it is well established that this method will demonstrate lesions that cannot be found in any other manner. It is possible to make positive diagnoses of a number of conditions on chest roentgenograms alone, while in other instances a lesion is disclosed, the nature of which must be ultimately determined by bacteriologic or cytologic studies

345

Hormonal pregnancy tests and congenital malformations.  

Science.gov (United States)

Some general practitioners are still using hormonal pregnancy tests despite the warning notice by the Committee on Safety of Medicines. In view of the possible fetal damage, this practice requires further action. 12 different preparations have been used. Only Primodos and Norlestrin are still available. These products are also used for the symptomatic treatment of secondary amenorrhea. The manufacturers' data sheets have been revised but the warning notice should be reinforced. A change in the name of the products is suggested. PMID:974708

Gal, I

1976-10-23

346

Congenital cystic adenomatoid malformation of the lung  

International Nuclear Information System (INIS)

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

347

Vascular malformations in the maxillofacial region  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital vascular lesions occur most often in children. Parents of these children take them to maxillofacial surgeons directly or during the treatment of other complications such as infection or jaw bone disorders. Various terms now used are unable to describe the pathogenesis and mechanism of the effect of vascular lesions on growth and development of facial bone.  Term of hemangioma is used in almost all cases of congenital and acquired vascular lesions, while fibrosis or shrinkage occurs in some of these lesions over the time. There is also some confusion in describing the vascular lesions which primarily affected bones and soft tissue vascular malformations associated with changes in hard tissues.

M. Jafari

1994-06-01

348

Two-Dimensional and Three-Dimensional Ultrasonography In assessment of Fetal Malformations: Routine versus Selective Use  

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Objective: This study was conducted trying to answer the question whether three-dimensional ultrasound imaging should be used routinely for prenatal screening of congenital malformations or only used selectively for specific high risk women for congenital malformations. Subjects & Methods: This study included 1000 pregnant women between 14 and 32 weeks gestation, Routine ultrasound examination was done during antenatal care of 500 pregnant women with no history of risk factors of congenital m...

Sioudi, Nahed H. Mohamed And Samia A.

2000-01-01

349

RECTAL DUPLICATION CYST IN PREVIOUS ANORECTAL MALFORMATION AND DOWN SYNDROME  

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Full Text Available Gastrointestinal (GI tract duplications are rare congenital malformations. Most of them occur in the ileum and only 1-5%, of all duplication, were in the rectum. Different clinical features including chronic constipation, rectal prolapsed or polips. We report on a 4-years-old girl with Down syndrome and anorectal malformation (ARM who was found to have a rectal duplication cyst.

A. Burgio

2012-12-01

350

Anorectal malformations  

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Full Text Available Abstract Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.

Peña Alberto

2007-07-01

351

Angiographic features of rapidly involuting congenital hemangioma (RICH)  

International Nuclear Information System (INIS)

Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

352

Prenatal sonographic detection of genital malformations.  

Science.gov (United States)

Postnatal clinical and pathological correlation of sonographically identified genital malformations in 17 fetuses was undertaken to determine the outcome of these findings. Diagnoses confirmed at autopsy or by postnatal examination and surgery included male (XY) pseudohermaphroditism in 2 cases, hypospadias with chordee in 3, microphallus in 2, cloacal anomaly in 2, congenital adrenal hyperplasia in 3, penoscrotal transposition in 2, intra-abdominal testes in 1, megalourethra in 1 and cloacal exstrophy variant in 1. Additional abnormalities included congenital heart defects, cleft palate, and renal, anorectal, cranial and cerebral malformations. Four fetuses with a sonographically abnormal appearing phallus were found to have an endocrine disorder (3 congenital adrenal hyperplasia and 1 panhypopituitarism). Outcomes included 2 abortions and 1 neonatal death with the remaining neonates undergoing medical and reconstructive treatment. Prenatal detection of genital abnormalities can be helpful in evaluating those fetuses with severe multi-system anomalies as well as lesions more amenable to correlation in the neonatal period. Detection is particularly important in neonates with endocrine disorders, and complex genitourinary and anorectal malformations. PMID:7752382

Mandell, J; Bromley, B; Peters, C A; Benacerraf, B R

1995-06-01

353

Clinical review of inner ear malformation  

International Nuclear Information System (INIS)

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)

354

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

Science.gov (United States)

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

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

2014-01-01

355

Ethanol sclerotherapy of peripheral venous malformations  

International Nuclear Information System (INIS)

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 skilmonary 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

356

Ethanol sclerotherapy of peripheral venous malformations  

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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.

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

2004-12-01

357

[Congenital fibular hemimelia].  

Science.gov (United States)

Among the congenital malformations of the lower limb, hemimelia of the fibula is particularly important because of its frequency and the large number of anatomic forms which have been observed. Attempts at various therapeutic approaches have ranged from external prostheses to amputations and finally major skeletal lengthening. Based on a statistical study of 17 patients, we examined the different steps in the treatment of such cases with the aim of preserving the limb. Modalities for lengthening procedures and complications were studied in a comparison with results obtained with classical treatments. PMID:7743850

Prévot, J; Dalat-Leneveu, P; Leneveu, E; Lascombes, P

358

Congenital Diaphragmatic Hernia  

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Full Text Available Abstract Congenital Diaphragmatic Hernia (CDH is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is

Tovar Juan A

2012-01-01

359

Microgastria: congenital microgastria  

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Full Text Available The authors report a case of an one-year-old girl with growth retardation, vomiting, aspiration pneumonias and malnutrition presenting gastroesopheal reflux and microgastria. The child was underwent a double lumen Roux-en-Y jejunal reservoir (Hunt-Lawrence pouch. This treatment improved nutritional status and growth. No others anomalies were detected. Congenital microgastria is a rare anomaly which is usually associated with other malformations. The authors reviewed the literature and recommend the gastric augmentation for the treatment for microgastria.

Nilton Crepaldi Vicente

2001-08-01

360

16 multi-slice CT three-dimensional and multiplanar reconstruction for evaluation of pediatric congenital scoliosis  

International Nuclear Information System (INIS)

Objective: Our study is to use of 16 MSCT three-dimensional images and multiplanar reconstruction images in the preoperative investigation of patients with congenital scoliosis, to study its technical advantage and work out surgical plan. Methods: Twenty-seven pediatric patients with congenital scoliosis processing between April to October 2004 were reviewed, including 13 boys and 14 girls. X-ray plain film and sixteen multi-slice CT examination on curved/standard multiplanar reconstruction and three- dimensional computed tomographic imaging may offer, many potential advantages for defining congenital spine anomalies liable to cause progression of scoliosis, including visualization of the deformity in any plane, from any angle, with the overlying structures subtracted. Results: Ten patients had segmentation defects, 6 patients underwent formation defects, 11 patients had complex, unclassifiable anomalies. The patients of rib deformity were found in 15 patients, the most prominent part of the rib cage deformity was at the same level as the most rotated vertebra in 7 patients; 8 patients had vertebral anomalies accompanied with diastematomyelie, including 6 patients with uncompleted or completed bony spur. In 19 of 27 cases, the muhiplanar reconstruction and three-dimensional images allowed identification of unrecognized malformations and completely evaluated the degree of scoliosis, during conventional X-ray images and axial CT images, including volume 3D imaging evalu images, including volume 3D imaging evaluated approximately classification and modality of complex anomalies in 11 cases, which were unclassifiable malformation in 7 cases and unsegmented bar with contralateral hemivertebrae; 4 children had segmentation defects revealed unilateral unsegmented bar (3 cases) and bilateral block vertebra (1 case) in volume 3D reconstruction images; 2 children were found occultation hemivertebrae which were not been discovered during conventional X-ray images and axial CT images; and 2 children were revaluated the amount of hemivertebrae. The curved multiplanar reconstruction images in all eases were best for defining the spinal canal and spinal medulla, and showed clearly the modality and developed way of bony spur, even the relationship with spinal cord in 6 cases. The standard muhiplanar reformatted images in 4 cases were helpful in showing occipital-C1-C2 anatomy and malformation, especially the junction of skull and cervix malformation. Conclusion: Our data suggest that 16 MSCT three- dimensional images and muhiplanar reconstruction images appears to be most useful tool in the patients with congenital scoliosis in which the anomalies are complex, multiple, or obscured by deformity and rib malformation. The reformatted images of MSCT is markedly superior to conventional X-ray images and axial CT images when used to evaluate the progressive spinal curvatures and work out surgical plan. (authors)

 
 
 
 
361

Congenital pulmonary lymphangiectasis.  

Science.gov (United States)

Congenital pulmonary lymphangiectasis (CPL) is a rare vascular malformation causing dilated lymph vessels and disturbed drainage of lymph fluid. Based on the pathogenesis and clinical phenotype it can be classified as primary or secondary CPL. Associated genetic syndromes with or without lymphedema, familial occurrence and gene mutations have been described. In utero, it may present as non-immune hydrops with pleural effusions. At birth neonates may have respiratory failure due to chylothorax and pulmonary hypoplasia, causing very high short term mortality rates. Other cases may become symptomatic any time later in childhood or even during adult life. CPL is usually diagnosed based on the combination of clinical signs, imaging and histological findings. Open-lung biopsy is considered the gold standard for the diagnosis of CPL. Treatment is primarily supportive featuring aggressive mechanical ventilation and the management of problems associated with congenital chylothorax including chest-drainage, medium-chain triglycerides (MCT) diet, and octreotide. PMID:24997116

Reiterer, Friedrich; Grossauer, Karin; Morris, Nicholas; Uhrig, Sabine; Resch, Bernhard

2014-09-01

362

Congenital radioulnar synostosis – case report  

Science.gov (United States)

Summary Background: Congenital radioulnar synostosis is a rare malformation of the upper limb, with functional limitations of the limb. Case Report: A 10-year-old child with pain and restricted mobility of the elbow joint was admitted to the hospital. Plain film radiography and CT examination was performed. Radiological examinations showed a congenital radioulnar synostosis. The child underwent surgical treatment – derotational osteotomy. Conclusions: Diagnostic imaging including computed tomography with three-dimentional (3D) reconstructions, preceding surgery enables planning of the surgical treatment. PMID:22802806

Siemianowicz, Anna; Wawrzynek, Wojciech; Besler, Krzysztof

2010-01-01

363

Socio-occupational status and congenital anomalies  

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Background: The aim of this study is to investigate the association between socio-occupational status and the frequency of major congenital anomalies in offspring. Methods: The study population comprised 81 435 live singletons born to mothers enrolled in the Danish National Birth Cohort between 1996 and 2002. A total of 3352 cases of major congenital anomalies (EUROCAT criteria) were identified by linkage to the National Hospital Discharge Register. Malformations were recorded at birth or in ...

Morales-sua?rez Varela, Mari?a M.; Nohr, Ellen Aagaard; Llopis-gonza?lez, Agustin; Andersen, Ann-marie Nybo; Olsen, Jorn

2009-01-01

364

Giant congenital melanocytic nevus scalp: report of a rare case  

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Giant congenital melanocytic nevus (garment nevus) is a kind of congenital malformation of neural crest cells with size greater than 20 cm. Malignant melanoma may develop in 2-31% of these lesions. The objective of this paper is to present a unique case of giant nevus which is rare. [Int J Res Med Sci 2013; 1(3.000): 317-319

Bhagyalakshmi, A.; Sudhakar, P. V.; Uma, P.; Urmila Devi, P.

2013-01-01

365

Congenital anomalies of the esophagus.  

Science.gov (United States)

Congenital malformations of the esophagus are frequently encountered by pediatric surgeons, especially esophageal atresia with or without tracheo-esophageal fistula. However, the molecular mechanisms underlying the development of these various anomalies are not clear. Here we present a brief overview of the embryologic development of the tracheoesophageal tube, along with some of the genetic controls which, when defective can lead to abnormal separation of this tube. PMID:20610191

El-Gohary, Yousef; Gittes, George K; Tovar, Juan A

2010-08-01

366

[Congenital anomalies of the central nervous system in autopsy specimens].  

Science.gov (United States)

On the basis of an analysis of 2398 autopsies of infants aged up to 1 year in 194 cases congenital anomalies of the central nervous system were found (8.1%). Most cases of these anomalies were noted in the group of newborns (85%) and the most frequent anomalies were: myelomeningocele (35.6%), multiple anomalies (20.1%), congenital hydrocephalus (17%), anencephaly (14.4%) and corpus callosum malformations (3.6%). Myelomeningocele, congenital hydrocephalus, anencephaly and true microcephaly were more frequent in girls, while multiple anomalies and corpus callosum malformations were more frequent in boys. PMID:2623859

Sobaniec-Lotowska, M; Ostapiuk, H; Sulkowski, S; Sobaniec, W; Sulik, M; Famulski, W

1989-02-01

367

Identification of a Novel ZIC3 Isoform and Mutation Screening in Patients with Heterotaxy and Congenital Heart Disease  

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Patients with heterotaxy have characteristic cardiovascular malformations, abnormal arrangement of their visceral organs, and midline patterning defects that result from abnormal left-right patterning during embryogenesis. Loss of function of the transcription factor ZIC3 causes X-linked heterotaxy and isolated congenital heart malformations and represents one of the few known monogenic causes of congenital heart disease. The birth incidence of heterotaxy-spectrum malformations is significant...

Bedard, James E. J.; Haaning, Allison M.; Ware, Stephanie M.

2011-01-01

368

Persistent congenital milia with naevus spilus  

Directory of Open Access Journals (Sweden)

Full Text Available We are reporting a case of solitary persistent left-sided endoareolar congenital milia in association with no serious malformation or abnormality of any structure except the presence of naevus spilus, on the back of the ipsilateral forearm.

Mishra Dharmendra

1995-01-01

369

Interventional treatment of pulmonary arteriovenous malformations  

Directory of Open Access Journals (Sweden)

Full Text Available 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 to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises 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.

Poul Erik Andersen

2010-09-01

370

Interventional treatment of pulmonary arteriovenous malformations  

DEFF Research Database (Denmark)

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 to the arteriovenous malformations. It is a minimally invasive procedure and at the same time a lung preserving treatment with a very high technical success, high effectiveness and low morbidity and mortality. Embolization prevents cerebral stroke and abscess as well as pulmonary haemorrhage and further raises the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenationof the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT.

Andersen, Poul Erik; Kjeldsen, Anette DrØhse

2010-01-01

371

Two major patterns of nongenetic malformations are found at autopsy.  

Science.gov (United States)

Patterns of malformations seen in autopsies may contribute to the understanding of their pathogenetic mechanisms. Two entities, acardiac twins (ATs) and amniotic band disruption complex (ABDC), have distinct patterns, indicating different mechanisms, namely vascular perfusion deficit and external disruption. With ATs and ABDC as model groups, this study was undertaken to see if other dysmorphic infants with the characteristic defects of these models formed distinct and numerically important groups. A total of 192 autopsies with nongenetic malformations was divided into groups including (1) those with defects found in the ATs but not in the ABDC, (2) those with defects found only in the ABDC, and (3) those with a mixture of exclusive defects from each model group. The cases followed the characteristic defects of ATs or ABDC in 20% (group 1) and 28% (group 2), respectively, forming 2 large and distinct groups; only 4% had mixed malformations (group 3). Group 1 had different characteristics from group 2 as a result of the frequent multiple malformations, often with congenital heart defects (CHDs), internal and inferior malformations. These cases were probably related to a vascular perfusion deficit. Group 2 had a majority of females and single, external, and superior defects, but it lacked CHDs and inferior malformations. These cases were likely due to external disruption. Two large and distinct groups of autopsies with nongenetic malformations were thus identified, and their mechanisms are proposed to be similar to those of the model groups. PMID:21105785

Davies, Belinda R; Giménez-Scherer, Juan Antonio

2011-01-01

372

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

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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.

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

1984-01-01

373

Congenital pseudohorseshoe lung associated with scimitar syndrome.  

Science.gov (United States)

Horseshoe lung is a congenital pulmonary malformation that is usually associated with scimitar syndrome. This malformation consists of fusion of both pulmonary lobes from the posterobasal segments. The