WorldWideScience
 
 
1

Congenital malformations of the vertebral column in ancient amphibians.  

Science.gov (United States)

Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene. PMID:23551141

Witzmann, F; Rothschild, B M; Hampe, O; Sobral, G; Gubin, Y M; Asbach, P

2014-04-01

2

Loss of col8a1a function during zebrafish embryogenesis results in congenital vertebral malformations.  

Science.gov (United States)

Congenital vertebral malformations (CVM) occur in 1 in 1000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue. PMID:24333517

Gray, Ryan S; Wilm, Thomas P; Smith, Jeff; Bagnat, Michel; Dale, Rodney M; Topczewski, Jacek; Johnson, Stephen L; Solnica-Krezel, Lilianna

2014-02-01

3

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

2014-11-01

4

Prevalence of Congenital Malformations  

Directory of Open Access Journals (Sweden)

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

Akhavan Karbasi Sedighah

2009-05-01

5

Congenital cystic lung malformations  

International Nuclear Information System (INIS)

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

6

Congenital Vascular Malformation  

Science.gov (United States)

... them, can be greatly improved in appearance by plastic surgery, but this is only occasionally needed and can ... malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit ... evaluation, surgery or less invasive therapy of the enlarged superficial ...

7

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

8

Complex Vertebral Malformation (CVM) in an Italian Holstein calf  

International Nuclear Information System (INIS)

Complex Vertebral Malformation, a congenital and lethal genetic defect of Holstein breed, has been recently observed in different Countries all over the world. In this paper the AA describe the clinical and radiological aspects of CVM in a two day old female calf. The disease was characterized by low body weight, symmetrical arthrogryposis and partial rotation of all legs and scoliosis. Calf was alert and showed physiological appetite, but was not able to maintain the quadrupedal stance. Radiographs of the vertebral column showed multiple vertebral anomalies, including hemivertebrae, fused and misshapen vertebrae and ribs and scoliosis, that affected mainly the caudal, cervical and thoracic regions. At necropsy, besides the skeleton anomalies, complex malformation of the heart was observed, which included atrial and interventricular defects and patent ductus arteriosus. This is the first case of CVM completely documented and genetically tested in Italy

9

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

10

Congenital cardiac malformations in congenital hypothyroid patients in Isfahan  

Directory of Open Access Journals (Sweden)

Full Text Available BACKGROUND: Congenital hypothyroidism (CH often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfahan. METHODS: In this cross-sectional study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. The association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and transient CH were studied in CH patients. RESULTS: Overall, 96 and 59 subjects were included in the case and control groups, respectively. Cardiac malformations were present in 30.2% (n = 29 and 15.2% (n = 9 of case and control groups, respectively; i.e. a higher prevalence in CH patients than in controls (P = 0.03. The prevalence of cardiac malformations without patent foramen oval was 6.25% (n = 6 in CH patients and 1.7% (n = 1 in control group (P = 0.1. There was no significant association between the presence of cardiac malformations and the aforementioned variables. CONCLUSIONS: High prevalence of cardiac malformations in CH patients strongly suggests the potential involvement of genetic factors in the pathogenesis of CH. This emphasizes on the necessity of genetic studies involving CH patients. KEY WORDS: Congenital hypothyroidism, cardiac malformations, genetics.

Mohammad Reza Sabri

2006-11-01

11

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.

2001-01-01

12

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

13

Congenital Chiari malformations: A review  

Directory of Open Access Journals (Sweden)

Full Text Available Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly evolved over the past decade with newer visualization techniques, thus posing new challenges to diagnosis and management. This review includes the developmental theories, the latest nomenclature and existing treatment modalities of this interesting anomaly. Five theories tried to explain the malformation of the hindbrain and the neuraxis but no single theory completes the development of embryonic defects. Several atypical presentations have been reported with either incidental/asymptomatic features resulting in further classifications. The new magnetic resonance imaging flow techniques attempt to substantiate the clinical presentations and correlate with the abnormality which can be subtle in correlation. Surgical correction to improve the cranial volume, decrease the hydrocephalus and improve flow across the foramen magnum is the mainstay but needs to be tailored to a given type of malformation. Further clinical and imageological studies, especially longitudinal natural history, might improve our understanding of the atypical/asymptomatic presentations and the management that is currently available.

Vannemreddy Prasad

2010-01-01

14

Clinical observation: congenital cystic adenomatoid malformation  

Directory of Open Access Journals (Sweden)

Full Text Available The aim of the article is to describe the case of congenital cystic adenomatoid malformation. The definition of this pathology, its morphology, classification, frequency and clinical forms are considered in the work. The data of the observation of a newborn with a complicated form of the defect have been determined: the peculiarities of the neonatal adaptation, the results of examination and treatment.

Chernenkov Yu.V.

2014-06-01

15

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

16

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

17

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.

18

Epizootic of ovine congenital malformations associated with Schmallenberg virus infection  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

19

Genetic basis of congenital cardiovascular malformations.  

Science.gov (United States)

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

Lalani, Seema R; Belmont, John W

2014-08-01

20

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

 
 
 
 
21

Congenital Malformation Prevalence in Cluj District between 2003-2007  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and ...

T?igan, S?tefan I.; Mi?rza, Tudor; Radu, Rodica; Molnar, Anamaria

2009-01-01

22

The effect of Consanguineous Marriages on Congenital Malformation  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Consanguinity has been a long-standing social habit among some of Iranians. The estimation of consanguinity ratios in different parts of Iran ranged from 30 to 85%. This study aimed to delineating the role of consanguinity on congenital malformations in Khominishahr rural population, Isfahan, Iran. Methods: In a case-control study, 518 malformed population (case group and 518 normal subjects (control group were randomly selected from khominishahr rural population, from July to November, 2003. Results: The frequency of consanguinity of parent’s was 59.7% in case group and 31.5% in control group. This different was statistically significant (p < 0.001. Conclusion: Family history of congenital malformation may play an important role in the high rates of congenital malformation. Key words: Consanguinity, Congenital Malformations

A Mehrabi Kushki

2005-09-01

23

Neurosurgical management of congenital malformations of the brain.  

Science.gov (United States)

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

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

2011-08-01

24

Transcatheter arterial embolization for congenital renal arteriovenous malformation  

International Nuclear Information System (INIS)

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

25

[Lung perfusion scintigraphy in pediatric patients with congenital malformations].  

Science.gov (United States)

Congenital malformations are an heterogeneous group of disorders that can lead changes in pulmonary perfusion and then can be evaluated with lung perfusion scintigraphy. We selected five patients in which the role of lung perfusion scintigraphy emerges as a reliable and non-invasive imaging technique. Lung perfusion scintigraphy is a useful tool in pediatric patients with congenital malformations allowing an accurate evaluation of the best therapeutic strategy and its results. PMID:24042425

Niccoli Asabella, Artor; Stabile Ianora, Amato Antonio; Di Palo, Alessandra; Rubini, Domenico; Pisani, Antonio Rosario; Ferrari, Cristina; Notaristefano, Antonio; Rubini, Giuseppe

2013-01-01

26

Spitz nevus arising upon a congenital glomuvenous malformation.  

Science.gov (United States)

There are several reports of the collision of vascular and pigmentary anomalies (e.g., phakomatosis pigmentovascularis) and the association between congenital melanocytic nevi and infantile hemangiomas. We report a case of Spitz nevus arising in skin overlying a congenital plaque-like glomuvenous malformation (GVM). This is the first report of a Spitz nevus arising in direct contiguity to a GVM. PMID:22304367

Arica, Deniz A; Arica, Ibrahim E; Yayli, Savas; Cobanoglu, Umit; Akay, Bengu N; Anadolu, Rana; Bahadir, Sevgi

2013-01-01

27

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)

28

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

29

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

30

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

International Nuclear Information System (INIS)

rmalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

31

MR imaging evaluation of congenital malformation of the spine  

International Nuclear Information System (INIS)

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

32

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

33

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

34

Population dependent differences of distribution of congenital heart malformations.  

Science.gov (United States)

The aim of the work was to study the pattern of congenital circulatory system malformations in the newborns in Upper Silesia, Poland (N = 355), and to compare it with the data known from the literature, predominantly with genetically very distant Chinese population from Hong Kong (N = 744). There were significantly more boys (about 60%) than girls (about 40%) in both groups. Much higher rate of the heart defects with pulmonary outflow obstruction was found in Hong Kong neonates (37.8%) than in the Polish ones (16.1%). Left ventricular outflow obstruction malformations were more common in Chinese group (22.7%) than in Polish one (14.1%), as well. On the other hand, Polish neonates were significantly more often admitted to cardiological hospital because of left-to-right shunts (37.7%) as compared to Chinese population (15.5%). The rate of complete transposition of great arteries was similar in both studied groups (12.1% in Poland versus 12.4% in Hong Kong). So called common mixing malformations were not significantly more often found in Polish newborns (12.1%) than in Hong Kong ones (8.3%). It is concluded that it significant race dependent distribution difference of congenital heart malformations exists between Polish (Silesian) and Chinese (Hong Kong) newborn populations. On the other hand the pattern of congenital heart malformations found in Polish newborns seems to be not very different from these ones, known from literature, described in the USA or in Europe. PMID:12901266

Rokicki, W?adys?aw; Leung, Maurice; Kohut, Joanna; Durma?a, Jacek; Borowicka, Ewa

2003-01-01

35

Transcatheter arterial ethanol embolization for congenital renal arteriovenous malformations  

International Nuclear Information System (INIS)

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

36

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

37

Genetic causes of congenital brain malformations in epilepsy patients  

DEFF Research Database (Denmark)

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

MØller, Rikke Steensbjerre

2008-01-01

38

POSSIBILITIES TO DIAGNOSE LIFE THREATENING CONGENITAL MALFORMATIONS  

Directory of Open Access Journals (Sweden)

Full Text Available 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 systems malformations during the postnatal period are presented hereinafter.

Daniela Iacob

2010-01-01

39

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

40

Prenatal diagnosis of congenital lung malformations  

International Nuclear Information System (INIS)

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.)

 
 
 
 
41

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

42

Congenital malformations and asymmetric crying facies  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Asymmetric crying face (ACF) means a congenital anomaly caused by either agenesis or hypoplasia of the depressor anguli oris muscle. This defect is on only one corner of the mouth since the birth, affects lower lip, and is particularly evident when the newborn is crying. Lesions at different levels of seventh nerve can cause similar and confounding weakness of the facial expressions. But, in case of ACF, forehead wrinkling, eye closure, nasolabial fold depth, and tearing are normal and symmet...

Fabris, Claudio; Ventriglia, Anna; Garzena, Ettore; Simonitti, Alessandro

2000-01-01

43

Congenital malformations and infant mortality from the Chernobyl reactor accident  

International Nuclear Information System (INIS)

The health impact of radiological contamination in Bavaria from the Chernobyl accident was evaluated. According to caesium 137 levels in soil samples, Bavaria was subdivided in a higher contaminated region (Southern Bavaria) and a lower contaminated region (Northern Bavaria). Indicators for health effects were congenital malformations, perinatal mortality, and infant mortality. Definition of the study periods accounted for the temporal relationship between conception as well as organogenesis and the time of highest exposure to radioactivity during the first weeks of May 1986. Statistical analysis was based on a combined spatial and temporal comparison. The results of the study do not show a significant increase in any of the outcome variables. Consequently, this study provides no evidence that radiation from Chernobyl caused a rise in the birth prevalence of congenital malformations or perinatal and infant mortality in the Bavarian population. (orig.)

44

Human gene copy number spectra analysis in congenital heart malformations  

Digital Repository Infrastructure Vision for European Research (DRIVER)

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical appro...

Tomita-mitchell, Aoy; Mahnke, Donna K.; Struble, Craig A.; Tuffnell, Maureen E.; Stamm, Karl D.; Hidestrand, Mats; Harris, Susan E.; Goetsch, Mary A.; Simpson, Pippa M.; Bick, David P.; Broeckel, Ulrich; Pelech, Andrew N.; Tweddell, James S.; Mitchell, Michael E.

2012-01-01

45

Congenital malformations: an inquiry into classification and nomenclature.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

Kalter, H.

1998-01-01

46

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

47

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)

48

Major congenital malformations in barbados: the prevalence, the pattern, and the resulting morbidity and mortality.  

Science.gov (United States)

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

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

2014-01-01

49

Prevalence of congenital malformation in newborns of the public hospital  

Directory of Open Access Journals (Sweden)

Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the fact-gathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil-congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.

Aritana Pereira Ramos

2008-01-01

50

Patient with congenital heart malformation and infective endocarditis  

Directory of Open Access Journals (Sweden)

Full Text Available We present the case of a 17 year-old-man, with no remarkable past medical history, who had a one month history of worsening functional class, fatigability and dyspnea, in addition to fever and systemic inflammatory response syndrome (SIRS; a de-novo congenital heart malformation, situs inversus type, with levocardia and a ventricular septal defect (VSD associated with transposition of great vessels were documented. During hospitalization he received several antibiotic treatments without microbiological isolation or identification of the cause of hemodynamic decompensation. An Aspergillus endocarditis with emboli to different organs was identified in the post-mortem examination.

Ramírez Ortiz, Zoraida

2014-10-01

51

Extra Cardiac Anomalies (ECA in 2020 Subjects with Congenital Cardiovascular Malformation (CCVM and Control: Etiological Perspective  

Directory of Open Access Journals (Sweden)

Full Text Available The main objective of this research was to analyze the spectrum of Congenital Cardiovascular Mal-formations (CCVM, Congenital Cardiovascular Malformation (ECA, the frequency of extra-cardiac malformations, extra cardiac anomalies and the proportion of chromosome aberrations among live born infants in order to generate hypothetical theories of congenital cardiovascular malformation etiology. It was found that out of 1010 congenital cardiovascular malformation, 288 were affected by extra cardiac anomalies (28.5%. Among the most common congenital cardiovascular malformations, Atrioventricular Septal Defect was associated up to 72% with extra cardiac anomalies while Dextro-transposition of Great Arteries was related only up to 8.7%. The syndromes were the common extra cardiac anomalies (37% with congenital cardiovascular malformation. Overall, in live born infants, the congenital cardiovascular malformations were quite common and these were often associated with other cardiovascular and extra-cardiac malformations, as well as with chromosome anomalies. However, the complex heart defects such as hypoplastic left heart syndrome and double outlet right ventricle were infrequent in live born infants.

Abdullah A. Alabdulgader

2012-01-01

52

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

Directory of Open Access Journals (Sweden)

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

53

Central nervous system and vertebral malformation resembling the Arnold-Chiari syndrome in a Simmental calf.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Multiple congenital anomalies were identified in a stillborn calf, including severe cerebellar hypoplasia and central nervous system abnormalities resembling the Arnold-Chiari syndrome of malformation of calves. The Arnold-Chiari malformation occurs sporadically and has little economic impact, whereas cerebellar hypoplasia implies the presence of BVD virus in the herd.

Leclerc, S.; Lo?pez, A.; Illanes, O.

1997-01-01

54

Major congenital malformations among paediatric admissions at University College Hospital, Ibadan, Nigeria.  

Science.gov (United States)

The pattern of major congenital malformations seen at University College Hospital, Ibadan, Nigeria among admitted children over a period of 5 years is reported. Their ages at presentation ranged from a few hours to 13 years, and the majority (72.7%) presented in infancy. The male:female ratio was 1.6:1. Cardiovascular, central nervous and gastro-intestinal malformations accounted for 71.6% of all malformations. The commonest individual system malformations were congenital heart lesions, spina bifida, anorectal malformation and omphalocoele, while the highest case fatality rates were recorded in cases of oesophageal atresia, hydrocephalus, biliary atresia and posterior urethral valve. Overall mortality was 19.4%. The importance of both longitudinal and cross-sectional studies of congenital malformations in developing countries, while infectious diseases and malnutrition are being controlled, is emphasized. PMID:7516140

Adeyemo, A A; Okolo, C M; Omotade, O O

1994-01-01

55

Congenital Cystic Adenomatoid Malformation of the Entire Lung  

Directory of Open Access Journals (Sweden)

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

56

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.)

57

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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...

Silva, M. P. S.

2000-01-01

58

Major congenital malformations among neonatal referrals to a Nigerian university hospital.  

Science.gov (United States)

Major congenital malformations are unrecognised as a major cause of neonatal morbidity in many African countries. We have studied the contribution of major congenital malformations to morbidity among neonates referred to the University College Hospital, Ibadan, Nigeria over a four year period (1992-1995). Major congenital malformations were found in 11.1% of 1276 neonatal referrals and ranked fourth among the most common problems in such neonates (after sepsis, jaundice and tetanus but ahead of prematurity and perinatal asphyxia). The commonest malformations seen included spina bifida (22.5%), anorectal malformation (13.4%), omphalocoele (9.9%) and tracheo-oesophageal fistula (8.5%). Neonates with major congenital malformations presented significantly earlier than other neonates but mortality during the first admission was similar in the two groups. It is concluded that major congenital malformations pose a significant burden of morbidity in referred neonates to the hospital. Health services planners should take this into account in order to allocate the necessary resources for the diagnosis and management of such children. PMID:9557439

Adeyemo, A A; Gbadegesin, R A; Omotade, O O

1997-11-01

59

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

Directory of Open Access Journals (Sweden)

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

60

Monitoring of congenital malformations in Belarus after the Chernobyl accident  

International Nuclear Information System (INIS)

An investigation of over 21,000 embryos and fetuses from medically-induced abortions was conducted from 1980 through 1991 in the Republic of Belarus. More than half of the abortions studied were carried out after the Chernobyl nuclear accident, including 1176 from districts with 137Cs soil contamination levels over 0.6 TBq/km2 (15 Ci/km2). Congenital malformations (CM's) in 7325 newborn children also were analyzed. The data on these children were obtained from a genetic monitoring program. It was shown that in the 5 years after the Chernobyl accident the frequency of abnormal developments in aborted fetuses from contaminated areas was significantly higher than in aborted fetuses from Minsk, which was relatively uncontaminated. Additionally, the CM incidence in newborn children increased in Belarus compared to the CM incidences before the accident; the increase was most significant in the heavily contaminated areas. The increases were attributed primarily to CMS characterized by dominant mutations. These increases could have been partially caused by factors unrelated to radiation dose, including defective nourishment, chemical contaminants, and psychological stresses. A correlation between CM increase and the parents' dose has not been established. 17 refs., 6 tabs

 
 
 
 
61

Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations : a nationwide cohort study  

DEFF Research Database (Denmark)

Objectives:To analyse the relation between selective serotonin reuptake inhibitor (SSRI) use and major congenital malformations, with focus on malformations of the heart. DESIGN: Register-based retrospective nationwide cohort study, using the Danish Medical Birth Registry. SETTING: Denmark. PARTICIPANTS: Pregnant women in Denmark between 1997 and 2009 and their offspring. PRIMARY OUTCOME MEASURES: For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic regression models for women exposed to an SSRI during the first trimester and for women with paused exposure during pregnancy. RESULTS: The authors identified 848¿786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual SSRIs. Furthermore, the authors found no association with dosage. CONCLUSIONS: The apparent association between SSRI use and congenital malformations of the heart may be confounded by indications. The moderate absolute risk increase combined with uncertainty for causality still requires the risk versus benefit to be evaluated in each individual case.

Solem, Espen Victor Jimenez; Andersen, Jon Thor Trærup

2012-01-01

62

Relationship between the characteristics of the menstrual cycle and congenital malformations in the human.  

Science.gov (United States)

We have studied the characteristics of conceptional and pre-conceptional cycles in mothers of malformed infants. A comparison made with a control group of mothers of normal, term infants showed that for the former the hypothermic phase during the conceptional cycle was longer than for the latter (20.4 and 16.9 days, respectively). Moreover, the mothers of malformed infants showed a slower temperature rise (greater than 3 days) in 45% of cases, vs 28% in the controls. The menarche of the mothers of malformed infants occurs later (14.3 vs 12.8 years). They usually have long menstrual cycles and a bad obstetric and gynaecological history. The risk for congenital malformations is thus closely related to the length of the hypothermic phase and to a slow temperature rise in the conceptional cycle. Therefore we suggest that the preovulatory oocyte overripeness is one of the mechanisms of congenital malformation. PMID:4054048

Troya, M; Bomsel-Helmreich, O; Bertrand, P; Papiernik, E; Spira, A

1985-09-01

63

Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?  

Science.gov (United States)

Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation. PMID:24898995

Istek, Seref

2014-01-01

64

Human gene copy number spectra analysis in congenital heart malformations.  

Science.gov (United States)

The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical approach permitting CNV gene frequency "spectra" to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 groups and verified in accordance with the European Paediatric Cardiac Code, were compared with two control groups, a disease-free cohort (n = 2,026) and a population with coronary artery disease (n = 880). Gains (?200 kb) and losses (?100 kb) were determined over 100 CHD risk genes and compared using a Barnard exact test. Six subphenotypes showed significant enrichment (P ? 0.05), including aortic stenosis (valvar), atrioventricular canal (partial), atrioventricular septal defect with tetralogy of Fallot, subaortic stenosis, tetralogy of Fallot, and truncus arteriosus. Furthermore, CNV gene frequency spectra were enriched (P ? 0.05) for losses at: FKBP6, ELN, GTF2IRD1, GATA4, CRKL, TBX1, ATRX, GPC3, BCOR, ZIC3, FLNA and MID1; and gains at: PRKAB2, FMO5, CHD1L, BCL9, ACP6, GJA5, HRAS, GATA6 and RUNX1. Of CHD subjects, 14% had causal chromosomal abnormalities, and 4.3% had likely causal (significantly enriched), large, rare CNVs. CNV frequency spectra combined with precision phenotyping may lead to increased molecular understanding of etiologic pathways. PMID:22318994

Tomita-Mitchell, Aoy; Mahnke, Donna K; Struble, Craig A; Tuffnell, Maureen E; Stamm, Karl D; Hidestrand, Mats; Harris, Susan E; Goetsch, Mary A; Simpson, Pippa M; Bick, David P; Broeckel, Ulrich; Pelech, Andrew N; Tweddell, James S; Mitchell, Michael E

2012-05-01

65

Progressive non-infectious anterior vertebral fusion, split cord malformation and situs inversus visceralis  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Progressive non-infectious anterior vertebral fusion is a unique spinal disorder with distinctive radiological features. Early radiographic findings consist of narrowing of the anterior aspect of the intervertebral disk with adjacent end plate erosions. There is a specific pattern of progression. The management needs a multi-disciplinary approach with major input from the orthopaedic surgeon. Case report We report a 12-year-old-female with progressive anterior vertebral fusion. This occurred at three vertebral levels. In the cervical spine there was progressive fusion of the lateral masses of the Axis with C3. Secondly, at the cervico-thoracic level, a severe, progressive, anterior thoracic vertebral fusion (C7-T5 and (T6-T7 resulted in the development of a thick anterior bony ridge and massive sclerosis and thirdly; progressive anterior fusion at L5-S1. Whereas at the level of the upper lumbar spines (L1 a split cord malformation was encountered. Situs inversus visceralis was an additional malformation. The role of the CT scan in detecting the details of the vertebral malformations was important. To our knowledge, neither this malformation complex and nor the role of the CT scan in evaluating these patients, have previously been described. Conclusion The constellations of the skeletal abnormalities in our patient do not resemble any previously reported conditions with progressive anterior vertebral fusion. We also emphasise the important role of computerized tomography in the investigation of these patients in order to improve our understanding of the underlying pathology, and to comprehend the various stages of the progressive fusion process. 3D-CT scan was performed to improve assessment of the spinal changes and to further evaluate the catastrophic complications if fracture of the ankylosed vertebrae does occur. We believe that prompt management cannot be accomplished, unless the nature of these bony malformations is clarified.

Grill Franz

2006-12-01

66

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

Directory of Open Access Journals (Sweden)

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.

Santos C.B.

2000-01-01

67

Congenital malformations and death among the offspring of Danish pharmacy assistants  

DEFF Research Database (Denmark)

Congenital malformations, stillbirth, and infant mortality were studied in a cohort of all female pharmacy assistants in Denmark under the age of 40 years who were members of the national union in 1979 to 1984 (4,939). Data on all births and deaths during first year of life during the study period were identified through the national birth register. Information on type of work, exposures, and life-style variables were obtained by postal questionnaires, to which 93% responded. In general, pharmacy assistants had a low frequency of congenital malformation and death among their offspring. Compared with an internal reference group, pharmacy assistants engaged in production or packing of pharmaceutical products experienced an increased prevalence of congenital malformations among their offspring. Working with identification and controls showed a slightly increased risk of death during the first year of life of the children. This could indicate occupational risks, but other explanations cannot be excluded.

Schaumburg, Inger; Olsen, J

1990-01-01

68

Congenital Malformations among Babies Born Following Letrozole or Clomiphene for Infertility Treatment  

Science.gov (United States)

Context Clomiphene citrate (CC) is the first line drug for ovulation induction but because of its peripheral antiestrogenic effect, letrozole was introduced as the 2nd line drug. It lacks the peripheral antiestrogenic effect and is associated with similar or even higher pregnancy rates. Since letrozole is a drug for breast cancer, its use for the purpose of ovulation induction became controversial in the light of studies indicating an increased incidence of congenital malformations. Aims To evaluate and compare the incidence of congenital malformations among offsprings of infertile couples who conceived naturally or with clomiphene citrate or letrozole treatment. Settings and Design A retrospective cohort study done at a tertiary infertility centre. Methods and Material A total of 623 children born to infertile women who conceived naturally or following clomiphene citrate or letrozole treatment were included in this study. Subjects were sorted out from medical files of both mother and newborn and follow up study was done based on the information provided by parents through telephonic conversations. Babies with suspected anomaly were called and examined by specialists for the presence of major and minor congenital malformations. Other outcomes like multiple pregnancy rate and birth weight were also studied. Results Overall, congenital malformations, chromosomal abnormalities were found in 5 out of 171 (2.9%) babies in natural conception group and 5 out of 201 babies in the letrozole group (2.5%) and in 10 of 251 babies in the CC group (3.9%). Conclusions There was no significant difference in the overall rate of congenital malformations among children born to mothers who conceived naturally or after letrozole or CC treatment. Key Messages Congenital malformations have been found to be comparable following natural conception, letrozole and clomiphene citrate. Thus, the undue fear against letrozole may be uncalled for. PMID:25272289

Sharma, Sunita; Ghosh, Sanghamitra; Singh, Soma; Chakravarty, Astha; Ganesh, Ashalatha; Rajani, Shweta; Chakravarty, B. N.

2014-01-01

69

Maternal use of fluconazole and risk of congenital malformations: a Danish population-based cohort study  

DEFF Research Database (Denmark)

OBJECTIVES: Fluconazole is widely used for the treatment of candidiasis. Although the drug is also prescribed to pregnant women, data on the safety of use of fluconazole during pregnancy are limited. We examined the association between the maternal use of fluconazole during pregnancy and the risk of congenital malformations. PATIENTS AND METHODS: In this population-based cohort study in Northern Denmark, we included 1079 women who had a live birth or a stillbirth after the 20th week of gestation and who redeemed at least one prescription for fluconazole during the first trimester. The reference cohort comprised 170 453 pregnant women who redeemed no fluconazole prescription during pregnancy. The women were identified through the Danish Medical Birth Registry. Data on drug use, birth outcome and covariates were extracted from population-based healthcare databases. We used logistic regression to estimate the prevalence odds ratio (POR) for congenital malformations after fluconazole exposure, while adjusting formaternal smoking, parity, maternal age and concurrent prescriptions for antiepileptics or antidiabetics. RESULTS: Among 1079 women who filled a fluconazole prescription during the first trimester, 797 (74%) received a total of 150 mg of fluconazole, 235 (22%) received 300 mg of fluconazole, 24 (2%) received 350 mg of fluconazole and 23 (2%) received 600 mg of fluconazole. These women gave birth to 44 (4.1%) children with congenital malformations. The 170 453 women without fluconazole prescriptions gave birth to 6152 (3.6%) children with congenital malformations. For congenital malformations overall, the adjusted POR associated with the first-trimester fluconazole use was 1.0 (95% confidence interval: 0.8-1.4). CONCLUSIONS: We found no overall increased risk of congenital malformations after exposure to short-course treatment with fluconazole in early pregnancy.

NØrgaard, Mette; Pedersen, Lars

2008-01-01

70

Surveillance of congenital malformations in Belarus. Chernobyl aftermath  

International Nuclear Information System (INIS)

Full text: In order to study possible genetic effects of the Chernobyl accident in human population a comparative analysis of the prevalence at birth of congenital malformations (CM) was performed on region and area administrative levels basing on the data of Belarus registry of CM permanently functioning since 1979. An attempt was made to evaluate dose dependence of the effects under study. We analyzed time trends of the prevalence at birth of 9 so called 'mandatory registered' nosologic units of CM. These group of CM could be easily diagnosed within the neonatal period and were assigned for registration at creation of the registry. Over 12 thousand cases registered within the period of 1981 to 2004 in 4 regions as well as about 3 thousand cases found in 47 rayons highly contrasting by radiation exposure were scrutinized. No long-term impact of the Chernobyl release on prevalence rates of surveyed CM was shown. Since the middle 80-s a similar steady increasing trend was observed as in contaminated, as in control areas with a tendency to stabilization after middle 90-s. We fail to reveal a dose dependence for CM prevalence rates calculated for the whole post-accidental period. Nonetheless, during the first years after the accident situation in contaminated areas was notably different from those in the control. Within the period of 1987 to 1989 a significant access of CM prevalence was registered in the strict radiological control area (Cs 137 soil contamination over 5rol area (Cs 137 soil contamination over 555 kBq/m2) as compared to non-contaminated zone. Relative risk was estimated as RR1987-1989 = 1.57 with 95% confidence interval being 95%CI = [1.29; 1.89]. Before the accident no difference in prevalence rates was marked (RR1981-1986 = 0.93; 95%CI = [0.80; 1.09]); nor it was evident in the farther post-accidental period (RR1990-2004 = 0.99; 95%CI = [0.80; 1.09]). Anomalies with high contribution of dominant de novo mutations (polydactyly, reduction defects of limbs and multiple CM) played principal role in the revealed increase. For this CM group a correlation with the estimated effective dose values was observed within the corresponding time period, no such relationship was marked for other analyzed CM, however. Analysis of the farther period failed to reveal a similar association for any group of CM under study. Thus, adverse effect of the Chernobyl accident on fetal development could not be excluded only within the first years after the accident. Peculiarity of the group of anomalies, chosen for the study, limits the impact of screening effect; however, it could not be completely ruled out because of ecological study design. Obtained results need to be confirmed in consecutive series of case-control and cohort studies. Extensive implementation of prophylactics of CM in the early 90-s made it possible to maintain the CM prevalence rates among newborns at the pre-accidental values. Currently over 30% of mandatory registered CM and about 20% of all CM in Belarus are registered among fetuses aborted for genetic reasons. Nevertheless, rather high level of CM prevalence in the republic insists farther improvement of the prophylactics of malformed children birth. For this purpose similar measures seems to be appropriate as for the residents of contaminated, as non-contaminated areas, since currently no substantial difference in time trends are traceable. The most perspective way of improvement of CM prenatal diagnostics is enlargement of the group of women that undergo ultrasound screening of I and II trimesters in specialized centers of prenatal diagnostics

71

Large congenital cystic asdenomatous malformation of the lung in a newborn  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital cystic adenomatous malformation (CCAM oflung is a rare form of congenital hamartomatous lesionsof the lung consisting of cysts filled with air. The generalclinic presentation of CCAM is dyspnea in newborns.CCAM may mimic congenital pneumonia or respiratorydistress syndrome. After the delivery, the newborn malewho had low Apgar score and severe respiratory distresswas intubated and admitted to neonatal intensive careunit. Patient was ventilated for 50 days and weaned fromthe mechanical ventilator at 50th day. Type II CCAM of thelung was diagnosed according to the chest radiographsand computed tomography scan signs. Although the surgeonssuggested lobectomy considering the patient’s notcompletely asymptomatic, family did not accept this operationdue to the risk of death. The patient was dischargedfrom the hospital until the next control.Key word: Congenital cystic adenomatous malformation of lunch, newborn, conservative treatment

?lyas Yolba?

2013-12-01

72

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

Directory of Open Access Journals (Sweden)

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

73

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

74

[Planning delivery in cases of congenital malformations from the neonatologist's point of view].  

Science.gov (United States)

Nowadays, most major congenital malformations are detected by prenatal ultrasound long before birth. This offers the opportunity to plan and organise the birth of such a baby in the most favourable setting. This paper gives an overview about how to decide on place, timing, and mode of delivery in some typical congenital malformations from the neonatologist's point of view. As, in most cases scientific evidence is lacking, there is an urgent need for prospective clinical trials. The question concerning the best place of birth is answered in a national guideline, which has been consented by several scientific societies. In this guideline, the transfer of the pregnant woman to a high level perinatal centre is recommended in the case of a known foetal malformation. Delivery outside a perinatal centre has been shown to increase mortality in infants with congenital diaphragmatic hernia and complications in infants born with gastroschisis. With respect to the timing of the delivery, the risks of an iatrogenic preterm birth must be considered in relation to the potential benefit for the newborn baby. There seems to be some advantage of a birth before the regular date only in few malformations. In most cases of congenital malformation, only a Caesarean section has a remarkable advantage with respect to the organisation of the delivery room management, but has no medical necessity for the baby. In summary, the delivery of a baby with a congenital malformation should be planned and organised by an interdisciplinary team of prenatal and postnatal specialists in close contact and consent with the parents. PMID:24595912

Werlein, A; Goebert, P; Maier, R F

2014-02-01

75

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

76

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.

77

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

78

Unusual roentgenographic presentation of a congenital cystic malformation of the lung  

International Nuclear Information System (INIS)

We describe here an infant with a large, solitary, fluid-filled lung cyst and hyperinflation of adjacent lung tissue in the same lobe. The combination of a fluid-filled cyst and ectatic emphysema in the same lobe suggests bronchial collapse and airway obstruction as a contributory mechanism for this unusual roentgenographic presentation of a congenital cystic malformation of the lung. (orig.)

79

Giant Hydatid Cyst within a Congenital Cystic Adenomatoid Malformation of the Lung  

Directory of Open Access Journals (Sweden)

Full Text Available A case of hydatid cyst within a congenital cystic adenomatoid malformation (CCAM of the right lower lobe of lung in an 8-year-old girl is reported. Presence of CCAM was confirmed on histopathology of the lung tissue attached to the specimen.

Yogesh Kumar Sarin

2013-05-01

80

Giant Hydatid Cyst within a Congenital Cystic Adenomatoid Malformation of the Lung  

Science.gov (United States)

A case of hydatid cyst within a congenital cystic adenomatoid malformation (CCAM) of the right lower lobe of lung in an 8-year-old girl is reported. Presence of CCAM was confirmed on histopathology of the lung tissue attached to the specimen. PMID:24040592

Sinha, Shalini; Bhalotra, Anju Romina; Khurana, Nita; Sobti, Parul

2013-01-01

 
 
 
 
81

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

82

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

83

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

84

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.

85

[Bone lengthening in congenital malformations of the lower limbs].  

Science.gov (United States)

The authors analyse 21 patients with congenital inequaliti of the lower limbs that had been included on a lengthening programme. The shortening aetiology was: global hipoplasy (8p), congenital deficiency of the fibula isolated (5p) or associated to proximal femoral focal deficiency (PFFD) (3p), congenital short femur (3p) and congenital abscense of the tibia (2p) The authors evaluate the anticipated discrepancy at the end of growth, the lengthening that was obtained and the complications that had been arised. On the femur and tibia hipoplasy the authors equalize the length of the lower limbs in the 75% of the patients, at only one time of lengthening. On the aplasya of the fibula the authors require two periods of lengthening and the achievement of complementary orthopaedic surgery. The authors conclude that the decision to initiate a limb lengthening programme must include not only the leg inequality evaluation, but also anothers factors like the associated anomalies, joint inestability, axial disturbance, foot condition, joint and muscle balance and the patient and family collaboration. PMID:2069279

Conejero Casares, J A; Flórez García, M T; Salcedo Luengo, J; Amaya Alarcón, J; Boudet García, J; González Herranz, J

1991-04-01

86

Radiotherapy for childhood cancer and risk for congenital malformations in offspring: a population-based cohort study  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Offspring of childhood cancer survivors may be at risk of genetic disease due to the mutagenic cancer treatments received by their parents. Congenital malformations were evaluated in a population-based cohort study of 1715 offspring of 3963 childhood cancer survivors and 6009 offspring of 5657 survivors’ siblings. The Danish Central Population Register, Cancer Registry and Hospital Register were used to identify study subjects and congenital malformations. Gonadal and uterine radiation dose...

Winther, Jf; Boice, Jd; Bautz, A.; Mulvihill, Jj; Stovall, M.; Olsen, Jh

2009-01-01

87

Case-control study of congenital malformations and occupational exposure to low-level ionizing radiation  

International Nuclear Information System (INIS)

In a case-control study, the authors investigated the association of parental occupational exposure to low-level external whole-body penetrating ionizing radiation and risk of congenital malformations in their offspring. Cases and controls were ascertained from births in two counties in southeastern Washington State, where the Hanford Site has been a major employer. A unique feature of this study was the linking of quantitative individual measurement of external whole-body penetrating ionizing radiation exposure of employees at the Hanford Site, using personal dosimeters, and the disease outcome, congenital malformations. The study population included 672 malformation cases and 977 matched controls from births occurring from 1957 through 1980. Twelve specific malformation types were analyzed for evidence of association with employment of the parents at Hanford and with occupational exposure to ionizing radiation. Two defects, congenital dislocation of the hip and tracheoesophageal fistula, showed statistically significant associations with employment of the parents at Hanford, but not with parental radiation exposure. Neural tube defects showed a significant association with parental preconception exposure, on the basis of a small number of cases. Eleven other defects, including Down syndrome, for which an association with radiation was considered most likely, showed no evidence of such an association. When all malformations were analyzed as a group, there was no evidere analyzed as a group, there was no evidence of an association with employment of the parents at Hanford, but the relation of parental exposure to radiation before conception was in the positive direction (one-tailed p value between 0.05 and 0.10). Given the number of statistical tests conducted, some or all of the observed positive correlations are likely to represent false positive findings. 30 references

88

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

Energy Technology Data Exchange (ETDEWEB)

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.

Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology

2005-12-01

89

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.)

90

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

91

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.

92

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.)

93

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)

94

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

95

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

96

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.

97

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.

98

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

99

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

Directory of Open Access Journals (Sweden)

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

100

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

 
 
 
 
101

Congenital heart malformations induced by hemodynamic altering surgical interventions  

Science.gov (United States)

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.

Midgett, Madeline; Rugonyi, Sandra

2014-08-01

102

Congenital heart malformations induced by hemodynamic altering surgical interventions  

Directory of Open Access Journals (Sweden)

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

103

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

Directory of Open Access Journals (Sweden)

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

104

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

105

[A case of congenital hypomyelination neuropathy with type I Chiari malformation and mental retardation].  

Science.gov (United States)

A four-year old boy with congenital hypomyelination neuropathy (CHMN) had mental retardation and a tic disorder, the latter commencing at 2 years of age. The diagnosis of CHMN was confirmed by electron microscopy of his biopsied sural nerve which showed loss of large myelinated fibers, decreased density of myelinated fibers, many naked axons and atypical onion bulb formation. MR imaging showed type I Chiari malformation in the absence of clinical signs attributable to it. Auditory brainstem response (ABR) showed delayed wave I peak latency, prolonged I--III interpeak latency, broad wave II duration and normal III--V interpeak latency, suggesting abnormal peripheral and normal central myelination. The association of CHMN with mental retardation. Chiari malformation and tic disorder has never been reported, the significance of which remained unclear. PMID:9294313

Saito, Y; Sugai, K; Sasaki, M; Hirano, S; Hanaoka, S; Hashimoto, T; Nonaka, I; Nagai, T

1997-09-01

106

PRENATAL CONGENITAL CYSTIC ADENOMATOID MALFORMATION DETECTED COINCIDENTALLY BY OBSTETRIC ULTRASOUND EXAMINATION  

Directory of Open Access Journals (Sweden)

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

107

Staged corrective surgery for complex congenital scoliosis and split cord malformation.  

Science.gov (United States)

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 the curve resulting in unstable walking and psychological upset. Her imaging studies showed multiple malformations in lower cervical and thoracic spine and a split cord malformation type 2 (fibrous septum with diplomyelia) at the apex of the deformity. A one-stage correction was deemed neurologically too risky. We therefore performed during a first stage a thoracotomy with anterior release. This was followed by skeletal traction with skull tongs and bilateral femoral pins. After gradual increase in traction weights a reasonable correction was achieved without any neurological deficit, over the next 10 days. A second-stage operation was done on the 11th day and a posterior instrumented fusion was performed. Post-operative recovery was uneventful and there were no complications. She was discharged with a Boston Brace to be worn for 3 months. At 2-year follow-up the patient outcome is excellent with excellent balance and correction of the deformity. In this grand round case, we discuss all the different option of treatment of congenital scoliosis associated with split cord malformation. In a medical environment where spinal cord monitoring is lacking, we recommend an initial release followed by skull and bifemoral traction over several days to monitor the neurologic status of the patient. Once optimal correction is achieved with the traction, a posterior instrumentation can be safely done. PMID:19626347

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

2009-09-01

108

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

International Nuclear Information System (INIS)

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

109

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

110

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.

111

Giant congenital melanocytic nevi in a patient with brain structural malformations and multiple lipomatosis.  

Science.gov (United States)

We present a 9-year-old boy diagnosed from birth with giant congenital melanocytic nevi. He had central structural brain malformations of hemimegalencephaly of the right frontotemporal lobe and left occipitoparietal lobe, choroid plexus hypertrophy, and a Dandy-Walker variant. In addition, he developed multiple lipomatoses. These lesions were cutaneous except for two at the cerebellopontine angles, which were present from birth. This patient represents a rarely documented example of two histopathologies resulting in serious complications. The diagnostic issues and histopathologic process are discussed. PMID:12088085

Wieselthaler, Nicky A; van Toorn, Ronald; Wilmshurst, Jo M

2002-04-01

112

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

Directory of Open Access Journals (Sweden)

Full Text Available 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 sensitivity of this method was done by PCR-PIRA method and sequencing. Four samples of heterozygous genotype GT for causal mutation in the bovine solute carrier family 35 member 3 gene (SLC35A3, which is responsible for CVM disease, were detected. Our results demostrated that the use of HRMA for genotyping of mutant allele T for SLC35A3 gene in Holstein cattle is an effective method for the selection of carriers of CVM disease.

Gábor M.

2012-01-01

113

Multiple congenital vertebral anomalies identified with multidetector CT  

Directory of Open Access Journals (Sweden)

Full Text Available We present computed tomography findings of a patient with several coexisting vertebral anomalies affecting different locations, namely partial atlanto-occipital assimilation, block vertebra and hemivertebra and briefly discuss clinical significance of each one of them.

Sarikaya B

2009-01-01

114

[Information should be given on consanguinity as a risk factor for congenital malformations].  

Science.gov (United States)

In the Born in Bradford study, an increased risk for congenital anomalies was found in the Pakistani subpopulation of Bradford, where cousin marriage is relatively frequent. While consanguinity may be associated with a risk for congenital malformations, it does not prove a causal relationship. Whatever the case, high perinatal mortality as well as the high prevalence of congenital anomalies are good reasons for implementing the knowledge on reproductive risks that has been available for many years. Well-known risk factors include higher maternal age, that was associated with congenital anomalies in the British mothers. Further research in an intervention study may provide more data on whether the associations found are causal. Implementing preconception care should involve primary care physicians, who need both facilities and training. In the Netherlands, the high perinatal mortality, especially in some big cities, could profit from similar interventions. Dutch primary care physicians consider it their responsibility to discuss consanguinity with patients, although there is some reluctance because of anticipated religious and social value conflicts. Without information reaching the target populations, they may lack awareness and will not ask for information themselves. People from Dutch migrant groups would prefer to be informed about reproductive risks of consanguinity by their primary care physicians. PMID:24397975

Cornel, Martina C; Houwink, Elisa J F; Houwink, Pieter E F

2014-01-01

115

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

Energy Technology Data Exchange (ETDEWEB)

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

116

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

International Nuclear Information System (INIS)

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.)

117

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

118

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  

DEFF Research Database (Denmark)

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.

Agergaard, Peter; Hebert, Anders

2011-01-01

119

Endoscopic transnasal odontoidectomy to treat basilar invagination with congenital osseous malformations  

Directory of Open Access Journals (Sweden)

Full Text Available Objective To introduce the surgical techniques of image-guided endoscopic transnasal odontoidectomy to treat basilar invagination with congenital osseous malformations and describe several advantages compared to the traditional transoral procedure. Methods From September 2009 to February 2010, two cases with basilar invagination, of which the etiology was congenital osseous malformations, underwent endoscopic transnasal odontoidectomy. Case 2 also received occipitocervical fixation and bone fusion during the same surgical episode to ensure stability. The clinical symptoms of the two cases were evaluated by using the Japanese Orthopaedic Association (JOA score for the evaluation of cervical myelopathy. Results Both patients were extubated after recovery from anesthesia and allowed oral food intake the next day. Cerebrospinal fluid rhinorrhea was found in the second case and cured by continuous lumber drainage of cerebrospinal fluid. No infection was noted. The average follow?up time was more than 24 months. Remarkable neurological recovery was observed at postoperation in both patients. The JOA scores elevated from preoperative 12 and 8 to postoperative 17 and 15. Conclusion The endoscopic transnasal odontoidectomy is a more minimally invasive approach for anterior decompression of cervicomedullary with basilar invagination. The advantages over the standard transoral odontoidectomy include visualization improvement, elimination of risk of tongue swelling and teeth damaging, alleviation of prolonged intubation, reduction of need for enteral tube feeding, and less risk of affecting phonation.

YU Yong

2012-08-01

120

Transcatheter embolization of a congenital intrahepatic arterioportal venous malformation: A case report  

Energy Technology Data Exchange (ETDEWEB)

Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors). 11 refs., 7 figs.

Sing, T.M.Y.S.; Wong, K.P.; Young, N. [Westmead Hospital, Westmead, NSW, (Australia). Department of Radiaology; Le, S.D.V. [Bankstown-Lidcombe Hospital, Bankstown, NSW, (Australia). Department of Nuclear Medicine and Ultrasound

1997-08-01

 
 
 
 
121

Congenital malformations in experimental diabetic pregnancy: aetiology and antioxidative treatment. Minireview based on a doctoral thesis.  

Science.gov (United States)

Diabetes mellitus in pregnancy causes congenital malformations in the offspring. The aim of this work was to characterize biochemical and morphologic anomalies in the conceptus of an animal model of diabetic pregnancy. In addition, a preventive treatment against diabetes-induced dysmorphogenesis was developed. Congenital cataract was often found in the offspring of diabetic rats. The fetal lenses had increased water accumulation, sorbitol concentration and aldose reductase activity compared to control lenses. The results suggest that the cataracts form via osmotic attraction of water due to sorbitol accumulation in the fetal lens. Another set of malformations, with possible neural crest cell origin, occurred frequently in offspring of diabetic rats. These included low set ears, micrognathia, hypoplasia of the thymus, thyroid and parathyroid glands, as well as anomalies of the heart and great vessels. Furthermore, diabetes caused intrauterine death and resorptions more frequently in the late part of gestation. When the pregnant diabetic rats were treated with the antioxidants butylated hydroxytoluene, vitamin E or vitamin C, the occurrence of gross malformations was reduced from approximately 25% to less than 8%, and late resorptions from 17% to 7%. This suggests that an abnormal handling of reactive oxygen species (ROS) is involved in diabetes-induced dysmorphogenesis in vivo. Indeed, an increased concentration of lipid peroxides, indicating damage caused by ROS, was found in fetuses of diabetes rats. In addition, embryos of diabetic rats had low concentrations of the antioxidant vitamin E compared to control embryos. These biochemical alterations were normalized by vitamin E treatment of the pregnant diabetic rats. The antioxidants are likely to have prevented ROS injury in the embryos of the diabetic rats, in particular in the neural crest cells, thereby normalizing embryonic development. These results provide a rationale for developing new anti-teratogenic treatments for pregnant women with diabetes mellitus. PMID:9394431

Simán, M

1997-01-01

122

Lumbo-Costo-Vertebral Syndrome with Congenital Lumbar Hernia  

Directory of Open Access Journals (Sweden)

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

123

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

124

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

Scientific Electronic Library Online (English)

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.

125

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

Directory of Open Access Journals (Sweden)

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

126

Prematurity, asphyxia and congenital malformations underrepresented among neonates in a tertiary pediatric hospital in Vietnam  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Estimated 17,000 neonates (? 28 days of age die in Vietnam annually, corresponding to more than half of the child mortality burden. However, current knowledge about these neonates is limited. Prematurity, asphyxia and congenital malformations are major causes of death in neonates worldwide. To improve survival and long term development, these vulnerable neonates need access to the specialized neonatal care existing, although limited, in lower middle-income countries like Vietnam. The aim of this study was to describe these conditions in a specialized Vietnamese hospital, compared to a Danish hospital. Methods We performed a comparative observational study of all neonates admitted to a tertiary pediatric hospital in South Vietnam in 2009–2010. The data were prospectively extracted from the central hospital registry and included basic patient characteristics and diagnoses (International Classification of Diseases, 10th revision. Prematurity, asphyxia and designated congenital malformations (oesophageal atresia, gastroschisis, omphalocoele, diaphragmatic hernia and heart disease were investigated. In a subgroup, the prematurity diagnosis was validated using a questionnaire. The hospitalization ratio of each diagnosis was compared to those obtained from a Danish tertiary hospital. The Danish data were retrieved from the neonatal department database for a ten-year period. Results The study included 5763 neonates (missing Conclusion Our findings suggest the investigated diagnoses were underrepresented in the Vietnamese study hospital. In contrast, relatively mild diagnoses were frequent. These results indicate the use of specialized care may not be optimal. Pre-hospital selection mechanisms were not investigated and additional studies are needed to optimise utilisation of specialized care and improve neonatal survival.

Kruse Alexandra Y

2012-12-01

127

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)

128

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

Directory of Open Access Journals (Sweden)

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

129

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

Directory of Open Access Journals (Sweden)

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

130

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

131

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

Science.gov (United States)

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. PMID:23476656

Andersen, Jon Traerup; Petersen, Morten; Jimenez-Solem, Espen; Rasmussen, Jeppe N?rgaard; Andersen, Nadia Lyhne; Afzal, Shoaib; Broedbaek, Kasper; Hjelvang, Brian Rafn; K?ber, Lars; Torp-Pedersen, Christian; Poulsen, Henrik Enghusen

2013-01-01

132

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)

133

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

134

Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defect...

Dowton, S. B.; Hing, A. V.; Sheen-kaniecki, V.

1997-01-01

135

A prospective study of congenital malformations among live born neonates at a University Hospital in Western Saudi Arabia  

International Nuclear Information System (INIS)

Objective was to estimate the incidence of major and minor congenital malformations among live born infants at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Estimation of risk factors was also evaluated. Between March 2004 and May 2005, a total of 5356 babies born at King Abdulaziz University Hospital, were enrolled in this study for malformations. Details of cases were recorded after parent's interviews, clinical, radiological and laboratory evaluations. One hundred and forty-seven (27.06/1000 livebirth) and 13 (2.39/1000 birth) stillbirth have congenital anomalies. In all livebirth, incidences of major anomalies were 93.9% and minor were 6.1%. Mothers of 95.9% with congenital malformation were healthy, 3.4% were diabetic and 0.7% had cardiac malformation. In 38.8% of cases parents were consanguineous. Among the liveborn births, the most common system involved was cardiovascular (7.1/1000), followed by musculoskeletal/limb (4.1/1000), external genitilia (2.8/1000), urinary (2.6/1000),multiple chromosomal (2.2/1000), orofacial (1.9/1000), central nervous system (1.9/1000), skin (1.7/1000), multiple single gene (1.3/1000), multiple sequence (0.75/1000), eyes (0.56/1000), unclassified (0.19/1000), musculoskeletal/abdominal (0.19/1000), endocrine (0.19/1000). High incidence of major malformation was found in Jeddah. Importance of Genetic Counseling is revealed in our study since more than three quarters of mothers were under 36 years and may well plan future pregnancies. (author)

136

Do parents of children with congenital malformations have a higher cancer risk? A nationwide study in Denmark  

Digital Repository Infrastructure Vision for European Research (DRIVER)

To investigate whether parents of children with congenital malformations more often developed cancer after birth of the child, a population-based case-control study in Denmark was undertaken. By linking the Cancer Registry with the Central Population Registry, we identified 8783 cancer patients having their first child born between 1977 and 1995 before the cancer was diagnosed. Parents of 41?206 firstborn children of a 10% random sample of newborns from the Birth Registry between 1980 and 1...

Zhu, J. L.; Basso, O.; Hasle, H.; Winther, J. F.; Olsen, J. H.; Olsen, J.

2002-01-01

137

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.

138

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.

139

Increased incidence of congenital malformations in the offspring of diabetic rats and their prevention by maternal insulin therapy.  

Science.gov (United States)

Intensive care of the pregnant mother with diabetes has dramatically decreased the incidence of diabetic fetopathy. The persistently high rate of fetal and neonatal mortality in diabetic pregnancies is nowadays mainly due to the increased incidence of serious congenital malformations. However, attempts to elucidate the precise teratogenic mechanisms have been sparse, presumably because of a lack of relevant animal models. In the present study we recorded the incidence and types of skeletal malformations in live offspring of normal rats and in rats made diabetic with the B-cytotoxic agent streptozotocin (SZ) at least 2 wk before conception. In some of the diabetic animals insulin treatment was begun 1 wk after the SZ injection and continued throughout pregnancy. In addition, the fetal development was followed by assessing the calcification of the skeleton on gestational days 20 and 22 with the aid of Alazarin Red S staining. Manifest diabetes in the pregnant rat induced a decrease in fetal weight and viability and marked retardation of skeletal maturation. In addition, about 20% of 135 viable fetuses showed skeletal malformations comprising either micrognathia or caudal dysgenesis. These defects were not found in 314 offspring of the control rats. Only two cases of caudal dysgenesis and none of micrognathia were detected among 233 offspring of the insulin-treated rats. The present data underscore the importance of a strict differentiation in the offspring of the diabetic rat between transient development retardations and true malformations. They also demonstrate that correction of the maternal glucose intolerance is crucial for preventing the fetus from developing skeletal malformations. Altogether the data suggest that fetal malformations in the diabetic rat are attributable either to the hyperglycemia as such or to some accompanying metabolic consequence of insulin deficiency. PMID:6759206

Eriksson, U; Dahlström, E; Larsson, K S; Hellerström, C

1982-01-01

140

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 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

 
 
 
 
141

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 for extraneous sources of variation results in an almost identical value, namely, 0.00412 (+/- 0.00364)

142

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.

143

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

144

An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

The records of an ongoing health surveillance registry that utilizes multiple sources of ascertainment were used to study the incidence rate of congenital malformations of the anterior abdominal wall in live-born children in British Columbia during the period 1964--1978 inclusive. No overall increase in incidence rate of these anomalies was detected during the study period. The estimated live-born incidence rates were: one in 4,175 live births for omphalocoele, one in 12,328 live births for g...

Baird, P. A.; Macdonald, E. C.

1981-01-01

145

Surgical repair of congenital mitral valve malformations / Reparación quirúrgica de las malformaciones congénitas de la válvula mitral  

Scientific Electronic Library Online (English)

Full Text Available SciELO Mexico | Language: English Abstract in spanish El desarrollo de las técnicas de plastía mitral en el paciente pediátrico ha sido lento debido a la gran variabilidad de presentación de las lesiones mitrales congénitas, y al poco conocido efecto del crecimiento sobre el complejo aparato valvular mitral. El objetivo de este estudio fue revisar nues [...] tra experiencia institucional en el corto y mediano plazo en la reparación quirúrgica de las valvulopatías mitrales congénitas. En forma retrospectiva se estudió una serie de 14 pacientes operados de reparación quirúrgica por valvulopatía mitral congénita en un lapso de cinco años. Se realizó seguimiento clínico y ecográfico en todos los casos a los 25 meses en promedio. La morbilidad operatoria de la serie fue de 77% y la mortalidad operatoria de 7%. No hubo mortalidad tardía. En el mediano plazo, la capacidad funcional mejoró en 73% de los sobrevivientes y se mantuvo en 27%. El índice de sobrevida libre de re-operación para cambio valvular por falla de la plastía mitral fue de 84% a los 30 días y de 77% a los 3.5 años. La reparación valvular mitral en el paciente pediátrico es probablemente la técnica de elección en el tratamiento quirúrgico de la patología valvular mitral congénita, y la ecocardiografía transesofágica intraoperatoria debe ser considerada como una herramienta altamente recomendable para evaluar los resultados. Abstract in english Surgical development of mitral valve repair techniques in pediatric patients has been slow because of the great variety in the presentation of congenital mitral valve malformations and the still unknown growing effect over the complex mitral valve apparatus. The aim of this study is to review our ea [...] rly an mid-term institutional outcomes in surgical repair of congenital mitral valve malformations. We studied retrospectively 14 patients with surgical repair of congenital mitral valve malformations in a 5 year period. Clinical and echocardiographic follow-up at a mean of 25 months was performed in all cases. Operative morbidity was 77% and operative mortality 7%. There were no late deaths. Clinical functional class stratification at the mid-term improved in 73% of survivors and did not change in the remaining 27%. Freedom from reoperation for mitral valve prosthetic replacement due to mitral valve repair failure was 84% at 30 days and 77% at 3.5 years. Surgical repair is probably the best technique option in the treatment of congenital malformations of the mitral valve, and transesophageal intraoperatory echocardiography must be highly recommended for evaluation of results.

Pedro, Curi-Curi; Samuel, Ramírez-Marroquín; Jorge, Cervantes-Salazar; Mauricio, Soulé; Julio, Erdmenger; Juan, Calderón-Colmenero.

146

Surgical repair of congenital mitral valve malformations / Reparación quirúrgica de las malformaciones congénitas de la válvula mitral  

Scientific Electronic Library Online (English)

Full Text Available SciELO Mexico | Language: English Abstract in spanish El desarrollo de las técnicas de plastía mitral en el paciente pediátrico ha sido lento debido a la gran variabilidad de presentación de las lesiones mitrales congénitas, y al poco conocido efecto del crecimiento sobre el complejo aparato valvular mitral. El objetivo de este estudio fue revisar nues [...] tra experiencia institucional en el corto y mediano plazo en la reparación quirúrgica de las valvulopatías mitrales congénitas. En forma retrospectiva se estudió una serie de 14 pacientes operados de reparación quirúrgica por valvulopatía mitral congénita en un lapso de cinco años. Se realizó seguimiento clínico y ecográfico en todos los casos a los 25 meses en promedio. La morbilidad operatoria de la serie fue de 77% y la mortalidad operatoria de 7%. No hubo mortalidad tardía. En el mediano plazo, la capacidad funcional mejoró en 73% de los sobrevivientes y se mantuvo en 27%. El índice de sobrevida libre de re-operación para cambio valvular por falla de la plastía mitral fue de 84% a los 30 días y de 77% a los 3.5 años. La reparación valvular mitral en el paciente pediátrico es probablemente la técnica de elección en el tratamiento quirúrgico de la patología valvular mitral congénita, y la ecocardiografía transesofágica intraoperatoria debe ser considerada como una herramienta altamente recomendable para evaluar los resultados. Abstract in english Surgical development of mitral valve repair techniques in pediatric patients has been slow because of the great variety in the presentation of congenital mitral valve malformations and the still unknown growing effect over the complex mitral valve apparatus. The aim of this study is to review our ea [...] rly an mid-term institutional outcomes in surgical repair of congenital mitral valve malformations. We studied retrospectively 14 patients with surgical repair of congenital mitral valve malformations in a 5 year period. Clinical and echocardiographic follow-up at a mean of 25 months was performed in all cases. Operative morbidity was 77% and operative mortality 7%. There were no late deaths. Clinical functional class stratification at the mid-term improved in 73% of survivors and did not change in the remaining 27%. Freedom from reoperation for mitral valve prosthetic replacement due to mitral valve repair failure was 84% at 30 days and 77% at 3.5 years. Surgical repair is probably the best technique option in the treatment of congenital malformations of the mitral valve, and transesophageal intraoperatory echocardiography must be highly recommended for evaluation of results.

Pedro, Curi-Curi; Samuel, Ramírez-Marroquín; Jorge, Cervantes-Salazar; Mauricio, Soulé; Julio, Erdmenger; Juan, Calderón-Colmenero.

2010-06-01

147

Congenital Pouch Colon: A Rare Variant of Anorectal Malformation: Histopathological Perspective with Brief Review of Literature  

Directory of Open Access Journals (Sweden)

Herein, we report a case of 10 days male child presented with congenital pouch colon in view of a rare congenital anomaly. We enlighten the detailed histopathological findings in this case as there is paucity of literature of congenital pouch colon. [J Interdiscipl Histopathol 2014; 2(3.000: 173-178

Dhiraj B Nikumbh

2014-06-01

148

Transarterial embolization of congenital pelvic arteriovenous malformation in a male (a case report and review of the literature)  

International Nuclear Information System (INIS)

A case of congenital pelvic arteriovenous malformation in a 41-years-old male treated by successful transarterial embolization was reported. This patient suffered from adult polycystic kidney disease and unknown reason for gross hematuria for four years. His left kidney was resected one year ago for suspected left nephrorrhagia but the hematuria remained. MRI examination of pelvis demonstrated AVM involving extensively the pelvic soft tissue, bladder and seminal vesicles. Bilateral internal iliac arterial angiography by DSA showed congenital pelvic arteriovenous malformations (CPAVM), the fringy anisotrophy vascular plexus supplied by many feeding arteries and drained into bilateral dilated and tortuous internal iliac venous branches. Super-selective catheterization and embolization for eight supplying blood branches, such as bilateral internal pudendal arterial branches, right obturator arterial branches, fight inferior gluteal arterial branches, left superior vesical artery, left inferior vesical artery, spermatocyst artery and right lateral sacral artery etc, were carried out successfully with gelfoam sponge or PVA particulates in one time. His urine turned clear on the same day after arterial embolization, and no gross hematuria occurred during 6-months follow-up. The pelvic arterial angiography with embolization is extremely effective for the diagnostic and therapeutic measure of CPAVM. (authors)

149

Interrupção da gravidez por malformação congénitica: a perspectiva da mulher / Pregnancy interruption due to congenital malformation: the woman's perspective  

Scientific Electronic Library Online (English)

Full Text Available SciELO Portugal | Language: Portuguese Abstract in portuguese O presente estudo pretende conhecer a experiência da interrupção terapêutica da gravidez, por malformação congénita, do ponto de vista das mulheres que a vivenciaram. Para a realização deste estudo, recorreu-se a uma metodologia qualitativa (Grounded Theory). A amostra, constituída por 18 mulheres, [...] resultou de uma amostragem intencional, sendo a recolha de dados realizada através de entrevista semi­ estruturada. Os resultados do estudo apontaram a interrupção de gravidez por malformação congénita, como uma experiência emocionalmente intensa. A notícia do diagnóstico de uma malformação foi recebida com choque e surpresa. A tomada de decisão de prosseguir ou interromper a gravidez foi considerada a mais difícil da vida do casal pela ambivalência de sentimentos e dilemas morais que produziu. Conhecer as reacções das mães, as razões e dificuldade na decisão representa, para os profissionais envolvidos no processo, uma oportunidade de definirem estratégias de aconselhamento e suporte facilitadoras do processo decisório. Abstract in english The present study aims to understand the experience of therapeutic pregnancy interruption, due to congenital malformation, according to mother’s perspective. For this study, a qualitative methodology (Grounded Theory) was chosen. The sample, composed of 18 women was the result of an intentional samp [...] ling and the data was collected through semi-structured interviews. The results of the study revealed the interruption of pregnancy, due to congenital malformation, as an emotional intense experience. The news of the diagnosis of a malformation was received with shock and surprise. The decision to continue or to interrupt the pregnancy was considered the most difficult in the couple’s life due to the ambivalence of feelings and moral dilemmas it produced. Understand mother’s reactions and the reasons and difficulties in the decision regarding pregnancy interruption represents for the professionals involved in the process, a chance to define strategies to facilitate counseling and support in the decision process.

Lucília, Sousa; M. Graça, Pereira.

150

Detection of Silent Homozygous Polymorphism in Exon 4 of SLC35A3 Gene in a Holstein Cattle Carrier for Complex Vertebral Malformation  

Directory of Open Access Journals (Sweden)

Full Text Available The complex vertebral malformation (CVM syndrome is a congenital autosomal recessively inherited disorder first observed in Danish Holsteins. It is caused by a point mutation (G?T at nucleotide position 559 of the gene, bovine solute carrier family 35 member 3 (SLC35A3. Bovine SLC35A3 plays a vital role in the development of the axial skeleton. The aim of this study was to detect carriers of CVM in Holstein population using Polymerase Chain Reaction- Primer-introduced restriction analysis and Restriction Fragment Length Polymorphism (PCR-PIRA and RFLP methods. Our results show that one out of 60 bulls tested exhibited polymorphism (G?T at position 559 in exon 4 of SLC35A3 gene. To confirm this polymorphism, the PCR product was purified using ExoSAP-IT followed by sequencing by Applied Biosystems 3130XL Automated Sequencer using the ABI BigDye Ver 3.1. Gene sequences from normal and carrier animals were compared using the software, codon code Aligner 4.0.4. Surprisingly, the sequence analysis of PCR product also revealed the presence of two previously unknown homozygous mutations (TG?CT at nucleotide positions 554 and 555 in addition to the previously reported heterozygous mutation at position 559. The bull was immediately culled from the breeding programme. To the our best of knowledge, this is the first study to report the existence of homozygous and heterozygous mutations at positions 554, 555 and 559 in exon 4 of SLC35A3 gene in Indian Holstein cattle. However, it is surprising that no phenotypic effects were observed in the carrier bull, necessitating further studies to fully elucidate the effects of these novel homozygous mutations.

Rosaiah Kotikalapudi, Rajesh K Patel*, Phani Sri S Sunkara and Arpita Roy

2013-04-01

151

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

International Nuclear Information System (INIS)

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

152

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

153

Prevalencia al nacimiento de malformaciones congénitas y de menor peso de nacimiento en hijos de madres adolescentes / Prevalence of congenital malformations at birth among teenage mothers  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english In Chile, 14 to 16% of births occur in teenage mothers. These mothers apparently have a higher frequency of premature labor, low birth weight and congenital malformations. Aim: To assess the frequency of prematurity, congenital malformations and weight at birth among the offspring of adolescent moth [...] ers. Patients and methods: The births occurred in a hospital between 1982 and 2001, were analyzed using the Latin American Collaborative Study for Congenital Malformations (ECLAMC) data base. Mothers were classified as teenagers when their age ranged between 10 and 19 years old and older when their age was over 20 years old. All women were subdivided as cases and controls. Results: The sample was formed by 894 teenage and 806 older mothers. Seven percent of both teenage and older mothers had offspring with one or more malformations. The incidence of low birth weight newborns and of prematurity was also similar in both groups of mothers. Conclusions: In this sample, offspring of teenage mothers do not have a higher frequency of malformations, low birth weight or prematurity (Rev Méd Chile 2003; 131: 1165-72).

Rosa Andrea, Pardo; Julio, Nazer H; Lucía, Cifuentes O.

1165-11-01

154

Prevalencia al nacimiento de malformaciones congénitas y de menor peso de nacimiento en hijos de madres adolescentes Prevalence of congenital malformations at birth among teenage mothers  

Directory of Open Access Journals (Sweden)

Full Text Available In Chile, 14 to 16% of births occur in teenage mothers. These mothers apparently have a higher frequency of premature labor, low birth weight and congenital malformations. Aim: To assess the frequency of prematurity, congenital malformations and weight at birth among the offspring of adolescent mothers. Patients and methods: The births occurred in a hospital between 1982 and 2001, were analyzed using the Latin American Collaborative Study for Congenital Malformations (ECLAMC data base. Mothers were classified as teenagers when their age ranged between 10 and 19 years old and older when their age was over 20 years old. All women were subdivided as cases and controls. Results: The sample was formed by 894 teenage and 806 older mothers. Seven percent of both teenage and older mothers had offspring with one or more malformations. The incidence of low birth weight newborns and of prematurity was also similar in both groups of mothers. Conclusions: In this sample, offspring of teenage mothers do not have a higher frequency of malformations, low birth weight or prematurity (Rev Méd Chile 2003; 131: 1165-72.

Rosa Andrea Pardo

2003-10-01

155

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  

Scientific Electronic Library Online (English)

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.

156

Echocardiographic Assessment of the Pulmonary Venous Flow: An Indicator of Increased Pulmonary Flow in Congenital Cardiac Malformations  

Directory of Open Access Journals (Sweden)

Full Text Available OBJECTIVE: To identify the left inferior pulmonary vein as an indirect marker of increased pulmonary flow in congenital heart diseases.METHODS: We carried out a prospective consecutive study on 40 patients divided into 2 groups as follows: G1 - 20 patients diagnosed with congenital heart disease and increased pulmonary flow; G2 (control group - 20 patients who were either healthy or had congenital heart disease with decreased or normal pulmonary flow. We obtained the velocity-time integral of the left inferior pulmonary vein flow, excluding the "reverse A" wave, with pulsed Doppler echocardiography.RESULTS: In G1, 19 out of the 20 patients had well-identified dilation of the left inferior pulmonary vein. No G2 patient had dilation of the left inferior pulmonary vein. Dilation of the left inferior pulmonary vein in conditions of increased pulmonary flow had sensitivity of 95%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 95% (1 false-negative case. The integral of time and velocity of the pulmonary venous flow obtained with pulsed Doppler echocardiography was greater in the G1 patients (G1=25.0±4.6 cm versus G2=14.8±2.1 cm, p=0.0001.CONCLUSION: The identification of dilation of the left inferior pulmonary vein suggests the presence of congenital heart disease with increased pulmonary flow. This may be used as an indirect sign of increased flow, mainly in malformations of difficult diagnosis, such as atrial septal defects of the venous sinus or coronary sinus type.

Rivera Ivan Romero

2002-01-01

157

Post-Natal Spontaneous Resolution of a Congenital Pulmonary Airway Malformation in an Infant: Plain Radiographic and CT Manifestations  

Directory of Open Access Journals (Sweden)

Full Text Available We present a case of a near-term infant who developed respiratory distress, shortly after birth. Chest X-ray showed a right sided tension pneumothorax (PTX with a large air containing structure at the base of the right hemithorax. The pneumothorax was partially evacuated with needle aspiration at which time the patient became asymptomatic, despite a small residual pneumothorax. CT scan of the chest confirmed a multilocular air-filled structure within the right lower lobe, most likely consistent with a congenital pulmonary airway malformation (CPAM. Subsequently, there was spontaneous resolution of the PTX and CPAM prior to surgical intervention. This case illustrates post-natal spontaneous resolution of a CPAM, thus obviating the need for surgical removal.

John Amodio

2012-06-01

158

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

Energy Technology Data Exchange (ETDEWEB)

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

159

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

Scientific Electronic Library Online (English)

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

160

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

Directory of Open Access Journals (Sweden)

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 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 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

 
 
 
 
161

BMP signaling modulation attenuates cerebral arteriovenous malformation formation in a vertebrate model.  

Science.gov (United States)

Cerebral arteriovenous malformations (AVMs) are vascular anomalies that carry a high risk of stroke and death. To test potential AVM therapies, a reverse genetics approach was used to model AVMs in zebrafish. Antisense morpholino oligonucleotides were used to knockdown activin receptor-like kinase I (alk1), which encodes a transforming growth factor (TGF)-beta family type I receptor implicated in a subset of human AVMs. Knockdown of alk1 caused a spectrum of morphologic, functional, and molecular defects that resemble those seen in humans with AVMs. It was found that losartan, an angiotensin II receptor antagonist, attenuated abnormal blood vessel morphology and systemic manifestations of high-output arteriovenous shunting in vivo. SMAD1 phosphorylation was significantly decreased in alk1 morphants compared with uninjected organisms (0.189±0.0201, 0.429±0.0164, P=0.0002). After treatment, morphant SMAD1 levels approached uninjected levels (0.326±0.0360, P=0.0355) and were significantly higher than those seen in the morphant-control group (P=0.0294). These data suggest that modulating the BMP signaling pathway with losartan, a drug in widespread clinical use in humans as an antihypertensive, may have the potential to be further evaluated as a therapeutic strategy for patients with AVMs. PMID:25052553

Walcott, Brian P

2014-10-01

162

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

163

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

Scientific Electronic Library Online (English)

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.

164

Congenital colonic malformation ("short colon") in a 4-month-old standardbred foal  

Science.gov (United States)

During exploratory laparotomy of a foal with colic, a congenital abnormally developed large colon was identified incidentally. Long-term follow-up showed that the colt was more prone to gas-colic with diet and exercise changes than were other horses, due possibly to the short colon. PMID:17494371

Koenig, Judith B.; Rodriguez, Alexander; Colquhoun, J. Keith; Stampfli, Henry

2007-01-01

165

Congenital cystic adenomatoid malformation and bronchogenic cyst in a 4-month-old infant.  

Science.gov (United States)

Congenital cystic disease of the lung and mediastinum encompasses a continuum of entities, and a histological overlap of many of these anomalies is acknowledged. Moreover, it is possible for different lesions to coexist in the same patient. Careful evaluation prior to surgical resection will alert the surgeon to the possible presence of multiple lesions in one patient. PMID:20081749

Tomita, Sandra S; Wojtczak, Henry; Pickard, Ralph; Vazquez, W David

2009-12-01

166

Associação entre o Uso de Abortifacientes e Defeitos Congênitos / Association of the Use of Abortifacient Drugs with Congenital Malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese Objetivo: verificar a associação entre o uso de abortivos durante o primeiro trimestre de gestação e a ocorrência de defeitos congênitos em recém-nascidos (RN). Métodos: estudo caso-controle com amostra de 800 nativivos, em maternidade pública de Salvador, Bahia, pelo período de um ano. Eram selecio [...] nados os seis primeiros nascimentos ocorridos em um só dia, sendo feitas consultas aos prontuários para verificação do registro de defeitos congênitos. Nos casos positivos eram observados os bebês afetados e realizada entrevista com as puérperas para o levantamento de antecedentes gestacionais e genéticos, utilizando questionário como instrumento de coleta de dados. Posteriormente os dados eram inseridos em programa de computador Epi-Info 5.0 para análise estatística. Resultados: as puérperas estudadas foram predominantemente de classe socioeconômica baixa (74,8%), sem escolaridade ou apenas 1º grau (61,1%). A taxa geral de defeitos congênitos foi de 4,7%. Entre as puérperas, 16% relataram a ingestão de substâncias abortivas no primeiro trimestre de gestação e 10,9% destas tiveram filhos com malformações. Nas crianças em que as mães não utilizaram abortivos essa incidência foi 3,6%. Os principais agentes usados como abortifacientes foram os chás medicinais e o misoprostol (Cytotec). O alumã (Vermonia baiensis Tol) e o espinho cheiroso (Kanthoxilum shifolium Lam) foram as plantas mais utilizadas inadequadamente, pois não apresentam propriedades abortivas, justificando assim a sua ineficácia. Conclusão: o presente estudo evidencia que tentativas de abortamento são práticas muito usuais em populações de baixa renda. Revela ainda que o uso de abortivos provoca um percentual significativo de malformações congênitas em bebês nativivos. Abstract in english Purpose: to verify the association of the use of abortifacient drugs during the first 3 months of gestation with the occurrence of congenital malformations in live births. Patients and Methods: population-based case-control study through selection of the first six live births on a day, over the peri [...] od of a year, at a public maternity in Salvador, Bahia, with a total of 800 cases. Studies were performed through investigation of birth records in the search of congenital malformation data, observation of selected malformed newborns, followed by interview with the mothers for collection of anamnesis data, by application of a questionnaire. Later on data were statistically evaluated by Epi-Info 5.0 software. Results: puerperae came from a low socialeconomic class (74.8%), without any or almost any schooling (61.1%). The general percentage of birth defects was estimated at 4.7%. Out of 800 puerperae, 16% reported abortifacient drug intake during the first 3 months of gestation and 10.9% of them had malformed babies. This incidence was 3.6% in children whose mothers denied the intake of any abortifacient drugs. Agents most commonly taken in those unsuccessful abortive attempts were misoprostol (Cytotec) and herbs, specially "alumã" (Vermonia baiensis Tol) and "espinho cheiroso" (Kanthoxilum shifolium Lam), which, according to the literature, do not really have any abortive effect. Conclusion: the study revealed the extension of intentional miscarriage in a low income population and showed that the occurrence of birth defects could be related to gestational exposure to misoprostol and herbal medicine intake.

Lilia Maria de Azevedo, Moreira; Alba Lima, Dias; Hilda Beatriz da Silva, Ribeiro; Clarissa Lima, Falcão; Tony Davinson, Felício; Carla, Stringuetti; Maria das Dores Ferreira, Santos.

2001-09-01

167

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)

168

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.  

Directory of Open Access Journals (Sweden)

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.

Yousef A. Al-Katawee

2005-05-01

169

Malformaciones congénitas del sistema digestivo: Maternidad Hospital Clínico de la Universidad de Chile. Período 1991-2001 Frequency of digestive system congenital malformations detected at the University of Chile Hospital in the period 1991-2001  

Directory of Open Access Journals (Sweden)

Full Text Available There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. Aim: To report the frequency of digestive system congenital malformations in this population. Material and methods: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. Results: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. Conclusions: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations (Rev Méd Chile 2003; 131: 190-6

Julio Nazer H

2003-02-01

170

Malformaciones congénitas del sistema digestivo: Maternidad Hospital Clínico de la Universidad de Chile. Período 1991-2001 / Frequency of digestive system congenital malformations detected at the University of Chile Hospital in the period 1991-2001  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. Aim: To report the frequency of digestive system congenital malformations in th [...] is population. Material and methods: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. Results: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. Conclusions: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations (Rev Méd Chile 2003; 131: 190-6)

Julio, Nazer H; María Eugenia, Juárez H; María Eugenia, Hübner G; Mónica, Antolini T; Lucía, Cifuentes O.

2003-02-01

171

Malformaciones congénitas del sistema digestivo: Maternidad Hospital Clínico de la Universidad de Chile. Período 1991-2001 / Frequency of digestive system congenital malformations detected at the University of Chile Hospital in the period 1991-2001  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish [...] Abstract in english There were 26,617 births attended at the University of Chile Clinical Hospital, of which 0.63% were stillborn. A frequency of malformations of 7.2 per born alive and of 22.1 per stillborn was detected in this population. Aim: To report the frequency of digestive system congenital malformations in th [...] is population. Material and methods: Analysis of data from the births that occurred at the University of Chile Hospital, that was gathered using codified form for the Latin American Collaborative Study for Congenital Malformations. Results: Ninety seven digestive congenital malformations were detected, with a rate of 26.4 per 10,000 born alive and 12.2 per 10,000 stillborn. Diaphragmatic hernia was the most frequent malformation found, followed by imperforated anus, onphalocele and esophageal atresia. There was a secular increase in the frequency of these malformations. Conclusions: The frequency of digestive system malformations is higher than in the rest of hospitals participating in the Latin American Collaborative Study for Congenital Malformations (Rev Méd Chile 2003; 131: 190-6)

Julio, Nazer H; María Eugenia, Juárez H; María Eugenia, Hübner G; Mónica, Antolini T; Lucía, Cifuentes O.

172

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.

173

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

174

Should asymptomatic congenital cystic adenomatous malformations be removed? the case against.  

Science.gov (United States)

In this article, we debate the pros and cons for the surgical removal of asymptomatic antenatally diagnosed cystic adenomatous malformations (CCAM). It is often argued that asymptomatic antenatally diagnosed CCAMs should be surgically removed in infancy due to the risk of future malignancy, future risk of infection and other symptoms and of increased risk of surgery after infective episodes. However, the risk of malignancy is often overplayed and the risk may not even be decreased after excision of the CCAM. Furthermore, the risk of future symptoms is uncertain thus surgical removal will subject many infants to unnecessary risk. Medical follow up will decrease the numbers that undergo surgical intervention and newer imaging techniques are likely to decrease the radiation risk. Whichever route of management is followed there is an urgent need to outline the natural history of asymptomatic CCAMs. PMID:23871555

Kotecha, Sailesh

2013-09-01

175

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

176

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

177

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

178

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

179

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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 malformations 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

2001-04-01

180

[Symmetrical phlebothrombosis of lower extremities resulting from congenital malformation of vena cava inferior].  

Science.gov (United States)

Agenesis/atresia ofvena cava inferior is a rare congenital anomaly, caused by an aberrance of embryonal venous system development. This is in most cases asymptomatic, because of well developed collateral venous circulation. However, in some cases, it can be manifested with occurence of deep thrombosis in area of pelvis and lower limbs. In this case report, we repon a 21 year old male with painful swelling of both lower limbs. Ultrasonographic examination revealed a bilateral thrombosis in deep venous system of lower limbs and pelvis. Subsequent CT angiography showed atresia ofinfrarenal segment ofvena cava inferior. According to the CT image thrombotic proces affected also collateral venous system, that joined mostly to vena azygos and hemiazygos. Examination of coagulation system didn't reveal a procuring cause ofthrombotic occurrence. We realized a systemic trombolysis with streptokinase during 5 days. Starting from the fifth day we administered a low molecular weight heparin in anticoagulant dose. This treatment showed a good clinical effect. Pacient was discharged with a long-term oral warfarin therapy in combination with acetylsalicylic acid. In next four months of taking recommended therapy no relapse of thrombotic process nor evolvement of bleeding complication was observed. PMID:20070035

Halcín, A; Kovácová, E; Mikla, F; Reptová, A; Bedeová, J

2009-12-01

 
 
 
 
181

In Situ Fracture of Stents Implanted for Relief of Pulmonary Arterial Stenosis in Patients with Congenitally Malformed Hearts  

Science.gov (United States)

Background One of the most common uses of stents in patients with congenitally malformed hearts is treatment of pulmonary arterial stenosis. Although there are reports of fractured pulmonary arterial stents, little is known about the risk factors for, and implications of, such fractures. Methods We reviewed angiograms to identify fractures in stents previously inserted to relieve stenoses in pulmonary arteries from 1990 through 2001 in patients who also underwent follow-up catheterization at least 3 years after placement of the stent. We undertook matched cohort analysis, matching a ratio of 2 fractured to 1 unfractured stent. Results Overall, 166 stents meeting the criterions of our study had been placed in 120 patients. We identified fractures in 35 stents (21%) in 29 patients. All fractured stents were in the central pulmonary arteries, 24 (69%) in the central part of the right pulmonary artery, and all were complete axial fractures, or complex fractures along at least 2 planes. Stent-related factors associated with increased risk of fracture identified by multivariable logistic regression included placement in close apposition to the ascending aorta (p = 0.001), and a larger expanded diameter (p = 0.002). There was obstruction across 28 of 35 fractured stents, which was severe in 11. We re-stented 21 of the fractured stents, and recurrent fracture was later diagnosed in 3 of these. A fragment of the fractured stent embolized distally in 2 patients, without clinically important effects. Conclusions In situ fracture of pulmonary arterial stents is relatively common, and in most cases is related to compression by the aorta. There is usually recurrent obstruction across the fractured stent, but fractured stents rarely embolize, and are not associated with other significant complications. PMID:18559137

McElhinney, Doff B.; Bergersen, Lisa; Marshall, Audrey C.

2014-01-01

182

576 kb deletion in 1p36.33-p36.32 containing SKI is associated with limb malformation, congenital heart disease and epilepsy.  

Science.gov (United States)

1p36 deletion (monosomy 1p36) is one of the most common terminal deletions observed in humans, characterized by special facial features, mental retardation, heart defects, development delay and epilepsy. Previously, we reported molecular findings in patients with limb, congenital heart disease (CHD) and other malformations with SNP-array. In a syndromic patient of the same cohort, we detected a small deletion of 1p36.33-p36.32 containing SKI (Sloan-Kettering Institute protooncoprotein). Recently, dominant mutations in SKI were identified to be correlated with Shprintzen-Goldberg syndrome. Retrospective examination revealed this patient with limb malformations, CHD, epilepsy and mild development delay. Together with previous reports, our study suggests that the 1p36.33-1p36.32 deletion encompassing SKI may represents a previous undescribed microdeletion disorder. PMID:23892090

Zhu, Xin; Zhang, Yi; Wang, Jian; Yang, Jin-Fu; Yang, Yi-Feng; Tan, Zhi-Ping

2013-10-10

183

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  

Directory of Open Access Journals (Sweden)

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

184

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  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese 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 Janei [...] ro, 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. Abstract in english 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, Bra [...] zil. 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.

Cláudia Maria da Silva, Costa; Silvana Granado Nogueira da, Gama; Maria do Carmo, Leal.

185

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  

Scientific Electronic Library Online (English)

Full Text Available SciELO Public Health | Language: English Abstract in portuguese 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 Janei [...] ro, 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. Abstract in english 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, Bra [...] zil. 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.

Cláudia Maria da Silva, Costa; Silvana Granado Nogueira da, Gama; Maria do Carmo, Leal.

186

Congenital malformations among newborns admitted in the neonatal unit of a tertiary hospital in Enugu, South-East Nigeria - a retrospective study  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Congenital abnormalities are not uncommon among newborns and contribute to neonatal and infant morbidity and mortality. The prevalence and pattern of presentation vary from place to place. Many a time the exact etiology is unknown but genetic and environmental factors tend to be implicated. Methods The objective of this study was to determine the prevalence of congenital malformations among newborns admitted in a tertiary hospital in Enugu, the nature of these abnormalities and the outcome/prognosis. For purposes of this study, congenital abnormalities are defined as obvious abnormality of structure or form which is present at birth or noticed within a few days after birth. A cross-sectional retrospective study in which a review of the records of all babies admitted in the Newborn Special Care Unit (NBSCU of the University of Nigeria Teaching Hospital (UNTH, Ituku/Ozalla, Enugu over a four year period (January 2007-April 2011 was undertaken. All babies admitted in the unit with the diagnosis of congenital abnormality were included in the study. Information extracted from the records included characteristics of the baby, maternal characteristics, nature/type of abnormalities and outcome. Data obtained was analyzed using SPSS 13. Rates and proportions were calculated with 95% confidence interval. The proportions were compared using students T-test. Level of significance was set at P? Results Seventeen (17 out of a total of six hundred and seven newborn babies admitted in the newborn unit of UNTH over the study period (Jan 2007-March 2011 were found to have congenital abnormalities of various types, giving a prevalence of 2.8%. Common abnormalities seen in these babies were mainly surgical birth defects and included cleft lip/cleft palate, neural tube defects (occurring either singly or in combination with other abnormalities, limb abnormalities (often in combination with neural tube defects of various types, omphalocoele, umbilical herniae, ano-rectal malformations and dysmorphism associated with multiple congenital abnormalities. Conclusions The results of this study show that 2.8% of babies admitted to a Newborn Special Care Unit in a teaching hospital in Enugu had congenital abnormalities and that the commonest forms seen were mainly surgical birth defects and includes cleft lip/cleft palate and neural tube defects.

Obu Herbert A

2012-07-01

187

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

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish 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 congénit [...] as 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. Abstract in english 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; María I., Sanabria Chocontá; Reinaldo, Menéndez García.

188

Neurological congenital malformations in a tertiary hospital in south Brazil / Malformações neurológicas congênitas observadas em hopsital terciário no sul do Brasil  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese Anomalias congênitas são umas das principais causas de morbimortalidade infantil. O sistema nervoso central (SNC) é acometido em 21% dos casos. OBJETIVO: Identificar a incidência e fatores associados a malformações do SNC em recém nascidos na maternidade de um hospital terciário de Porto Alegre. MÉT [...] ODO: Estudo controle realizado de janeiro de 2000 a dezembro de 2005, baseado no banco de dados do Estudo Colaborativo Latino Americano de Malformações Congênitas. RESULTADOS: Dos 26.588 nascimentos, 3,67% apresentaram malformação (IC=95%; 3,44-3,9), com 0,36% do SNC (IC=95%, (0,29-0,43)). A malformação do SNC mais comum foi hidrocefalia (10,9%). Menor idade materna (p=0,005); menor peso ao nascimento (p=0,015), maior perímetro cefálico (p=0,003); nascimentos pré-termo (p=0,000) e menores índice APGAR no 1º e 5º minutos (p Abstract in english BACKGROUND: Congenital anomalies are one of the main causes of morbidity and mortality among infants. The involvement of the central nervous system (CNS) occurs in 21% of cases. OBJECTIVE: To identify incidence of CNS malformations and associated factors in newborns at a Terciary Hospital of Porto A [...] legre. METHOD: Case-control study conducted between 2000 and 2005 based on the Latin American Collaborative Study of Congenital Malformations database. RESULTS: Among 26,588 births registered in this period, 3.67% presented with malformations (IC=95%; 3.44-3.9), being 0.36% of the CNS (IC=95%,(0.29-0.43)). The most common CNS malformation was meningomielocele (10.4%). Young maternal age (p=0.005); low birth weight (p=0.015); large cephalic perimeter (p=0.003); post term birth (p=0.000) and low APGAR indexes at the 1st and 5th minutes were associated with CNS malformations. CONCLUSION: We found an incidence of CNS malformations similar as compared to literature.

Ana, Guardiola; Vanessa, Koltermann; Paula Musa, Aguiar; Sérgio Pilla, Grossi; Valéria, Fleck; Elisabeth C., Pereira; Lúcia, Pellanda.

2009-09-01

189

Neurological congenital malformations in a tertiary hospital in south Brazil Malformações neurológicas congênitas observadas em hopsital terciário no sul do Brasil  

Directory of Open Access Journals (Sweden)

Full Text Available BACKGROUND: Congenital anomalies are one of the main causes of morbidity and mortality among infants. The involvement of the central nervous system (CNS occurs in 21% of cases. OBJECTIVE: To identify incidence of CNS malformations and associated factors in newborns at a Terciary Hospital of Porto Alegre. METHOD: Case-control study conducted between 2000 and 2005 based on the Latin American Collaborative Study of Congenital Malformations database. RESULTS: Among 26,588 births registered in this period, 3.67% presented with malformations (IC=95%; 3.44-3.9, being 0.36% of the CNS (IC=95%,(0.29-0.43. The most common CNS malformation was meningomielocele (10.4%. Young maternal age (p=0.005; low birth weight (p=0.015; large cephalic perimeter (p=0.003; post term birth (p=0.000 and low APGAR indexes at the 1st and 5th minutes were associated with CNS malformations. CONCLUSION: We found an incidence of CNS malformations similar as compared to literature.Anomalias congênitas são umas das principais causas de morbimortalidade infantil. O sistema nervoso central (SNC é acometido em 21% dos casos. OBJETIVO: Identificar a incidência e fatores associados a malformações do SNC em recém nascidos na maternidade de um hospital terciário de Porto Alegre. MÉTODO: Estudo controle realizado de janeiro de 2000 a dezembro de 2005, baseado no banco de dados do Estudo Colaborativo Latino Americano de Malformações Congênitas. RESULTADOS: Dos 26.588 nascimentos, 3,67% apresentaram malformação (IC=95%; 3,44-3,9, com 0,36% do SNC (IC=95%, (0,29-0,43. A malformação do SNC mais comum foi hidrocefalia (10,9%. Menor idade materna (p=0,005; menor peso ao nascimento (p=0,015, maior perímetro cefálico (p=0,003; nascimentos pré-termo (p=0,000 e menores índice APGAR no 1º e 5º minutos (p<0,000 apresentaram associação com malformações do SNC. CONCLUSÃO: Foi encontrada incidência similar de malformações do SNC comparada à literatura.

Ana Guardiola

2009-09-01

190

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

Directory of Open Access Journals (Sweden)

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

191

Cancer risks in children with congenital malformations in the nervous and circulatory system-A population based cohort study  

DEFF Research Database (Denmark)

AIM: We estimated the age and organ-specific cancer risk for children with a congenital malformation (CM) in the nervous or in the circulatory system. METHODS: We identified 1,709,456 live born singletons in Denmark between 1 January 1977 and 31 December 2007 and excluded children with chromosomal birth defects. Information on CMs was obtained from the Danish National Hospital Register. Information on cancer occurrence was obtained from the Danish Cancer Registry. We applied Cox proportional hazards regression model to estimate hazard ratios (HR) for cancer. Children entered into the CM cohort on the day of birth regardless of when the CM was diagnosed or on the day of CM diagnosis in an alternative analysis. RESULTS: Overall, 4484 (0.26%) and 24,643 (1.44%) children were diagnosed with a CM in the nervous and in the circulatory system, respectively. Compared with children without any CM, children with a CM in the nervous system had a 5.97 fold (95%CI [confidence interval]: 4.66-7.64) higher risk of cancer,including cancer in the central nervous system (HR=18.84, 95%CI: 12.67-28.01), in the mesothelial and soft tissue (HR=15.64, 95%CI: 7.99-30.60), in the skin (HR=4.91, 95%CI: 2.19-11.0). The associations were stronger early in life. Children with a CM in the circulatory system had a 2.64 fold (95%CI: 2.21-3.16) higher risk of cancer, including cancer in the lymphatic and haematopoietic tissues (HR=3.22, 95%CI: 2.43-4.27) and cancer in the CNS (HR=2.40, 95%CI: 1.43-4.02). Some of these associations were weaker in the alternative analysis. Children with subtypes of CM in the two systems showed a higher cancer risk. CONCLUSIONS: Children who were diagnosed with a CM in the nervous system had a substantially higher cancer risk especially early in life. Children diagnosed with a CM in the circulatory system had a moderately higher cancer risk.

Sun, Yuelian; Overvad, Kim

2014-01-01

192

Major congenital malformations and residential proximity to a regional industrial park including a national toxic waste site: An ecological study  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Public concern about exposure to emissions from the regional industrial park (IP, including 17 chemical plants and the national industrial toxic waste site, initiated this study of the possible association between major congenital malformations (MCM and residence near the IP in Israel's Southern District. Methods The study was conducted during the period 1995–2000 and included 63,850 deliveries. Data on deliveries and MCM detected at births were obtained from the regional medical center, and stratified by ethnicity and type of locality. As exposure indicator we used distance categories (proximal and distant and predominant wind direction from the IP. Distance stratification was based on the geographical distribution of the localities and complaints about the odor related to IP emissions. Based on these complaints, localities up to 20 km from the IP were considered proximal to the IP. Results Average rates of MCM were 5.0% and 4.1% for Bedouin and Jewish newborns, respectively. The rate of MCM for Bedouin from proximal localities was significantly greater compared with distant localities (5.6% vs. 4.8%; RR = 1.17 with 95% CI: 1.04–1.29. In the proximal Bedouin permanent localities, the MCM rate reached 8.2 %, which was significantly higher than in distant areas (RR = 1.63, 95% CI: 1.39–1.80. Significant risk increase of central nervous system MCM was found in these localities, compared to distant ones (RR = 2.27, 95% CI: 1.44–3.60. Among newborns from the traditional tribal settlements, proximity to the IP was associated with increased rates of the following MCM: 1 all combined, 2 those associated with chromosomal abnormalities, and 3 those defined as "others unclassified MCM." Comparison of autosomal recessive disease rates by proximity to the IP in Bedouin newborns indicates that the observed increased risk of MCM is not explained by consanguineous marriages. The rates of MCM in the Jewish population were similar among "exposed" and "unexposed" inhabitants. Conclusion Residential proximity to the IP is associated with increased rates of MCM among Arab-Beduin but not in Jewish populations. These observations indicate the need for public health protection of a vulnerable society in transition, although the relative importance of chemical exposure and health care utilization requires further study.

Polyakov Marina

2006-03-01

193

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  

Directory of Open Access Journals (Sweden)

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

194

Multizamide myelography and computed tomography in malformations of the cranio-vertebral junction and of the spine  

International Nuclear Information System (INIS)

The Arnold-Chiari syndrome and the dysrhaphic disturbances are highly complex pathologic pictures. Often, the clinical findings and the variety of the basic pathologic disturbances are confusing. However, it is not always possible to detect all aspects of the disturbance in one conventional myelographic examination. In primary metrizamide computed tomography the applied KM dosages are considerably lower. This method facilitates the detailed imaging of osseous malformations, of associated spinal and paraspinal masses and their relation to the spinal cord. (WU)

195

Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos / Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a d [...] iminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados. Abstract in english Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapear [...] ing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

Amauri Batista da, Silva; Aílton Antonio de, Moraes; Iran da Costa, Bessa; Wilson E., Sesana.

1972-03-01

196

Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases  

Directory of Open Access Journals (Sweden)

Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados.Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

Amauri Batista da Silva

1972-03-01

197

Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo / Behavior of some risk factors for major congenital malformations in Ranchuelo municipality  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Se define como malformación congénita mayor a los defectos que tienen un compromiso funcional o estético importante para la vida del individuo, por lo que tienen consecuencias médicas, requieren de atención temprana, algunas veces de urgencia y, por tanto, tienen también repercusión psicosocial. Se [...] realizó un estudio analítico de casos y controles con el objetivo de clasificar las malformaciones congénitas mayores que incidieron en la mortalidad infantil o fetal en el municipio de Ranchuelo, en el período de enero de 1999 a diciembre de 2003, para determinar la efectividad de los diferentes métodos de diagnóstico prenatales e identificar los factores de riesgo que se asociaron a estas. El universo de trabajo quedó constituido por 25 casos (21 mujeres con historia de interrupción de la gestación por causa genética y 4 con antecedentes de al menos un hijo(a) fallecido por malformaciones congénitas) y se seleccionó igual cantidad de controles. Las malformaciones que más incidieron fueron las del sistema nervioso, digestivo y genitourinario. La efectividad del ultrasonido en el diagnóstico prenatal fue de 88 % y cuando se combinó con la cuantificación de Alfafeto proteína en suero materno, fue de un 100 % para el diagnóstico de los defectos congénitos abiertos. Los factores de riesgo que se asociaron con las malformaciones fueron los antecedentes familiares de estos defectos, los hábitos tóxicos y los antecedentes de amenaza de aborto, con un riesgo atribuible de 0.46, 0.37 y 0.32, respectivamente. Se hacen recomendaciones. Abstract in english Congenital malformation is defined as the defects having an important functional or aesthetic compromise for the individual's life, so they have medical consequences, require early attention, sometimes of emergency and, therefore, they also have a psychosocial impact. An analytical case-control stud [...] y was conducted aimed at classifying the major congenital malformations influencing on children or fetal mortality in Ranchuelo municipality from January 1999 to December 2003 to determine the effectivity of the different prenatal diagnostic methods and to identify the risk factors associated with them. The working universe was composed of 25 cases (21 women with history of abortion due to genetic cause and 4 with previous history of at least a dead child as a result of congenital malformations). The same number of controls was selected. The malformations affecting the most were those of the nervous, digestive and genitourinary system. The efficacy of ultrasound in the prenatal diagnosis was 88 %, and when it was combined with the quantification of alpha fetoprotein in maternal serum it was 100 % for the diagnosis of the open congenital defects. The risk factors associated with malformations were previous family history of these defects, the toxic habits and the antecedents of threatened abortion with an attributable risk of 0.46, 0.37 and 0.32, respectively. Recommendations were made.

Noel, Taboada Lugo; Clara, León Mollinedo; Suyén, Martínez Chao; Olga, Díaz Inufio; Katia, Quintero Escobar.

198

Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo Behavior of some risk factors for major congenital malformations in Ranchuelo municipality  

Directory of Open Access Journals (Sweden)

Full Text Available Se define como malformación congénita mayor a los defectos que tienen un compromiso funcional o estético importante para la vida del individuo, por lo que tienen consecuencias médicas, requieren de atención temprana, algunas veces de urgencia y, por tanto, tienen también repercusión psicosocial. Se realizó un estudio analítico de casos y controles con el objetivo de clasificar las malformaciones congénitas mayores que incidieron en la mortalidad infantil o fetal en el municipio de Ranchuelo, en el período de enero de 1999 a diciembre de 2003, para determinar la efectividad de los diferentes métodos de diagnóstico prenatales e identificar los factores de riesgo que se asociaron a estas. El universo de trabajo quedó constituido por 25 casos (21 mujeres con historia de interrupción de la gestación por causa genética y 4 con antecedentes de al menos un hijo(a fallecido por malformaciones congénitas y se seleccionó igual cantidad de controles. Las malformaciones que más incidieron fueron las del sistema nervioso, digestivo y genitourinario. La efectividad del ultrasonido en el diagnóstico prenatal fue de 88 % y cuando se combinó con la cuantificación de Alfafeto proteína en suero materno, fue de un 100 % para el diagnóstico de los defectos congénitos abiertos. Los factores de riesgo que se asociaron con las malformaciones fueron los antecedentes familiares de estos defectos, los hábitos tóxicos y los antecedentes de amenaza de aborto, con un riesgo atribuible de 0.46, 0.37 y 0.32, respectivamente. Se hacen recomendaciones.Congenital malformation is defined as the defects having an important functional or aesthetic compromise for the individual's life, so they have medical consequences, require early attention, sometimes of emergency and, therefore, they also have a psychosocial impact. An analytical case-control study was conducted aimed at classifying the major congenital malformations influencing on children or fetal mortality in Ranchuelo municipality from January 1999 to December 2003 to determine the effectivity of the different prenatal diagnostic methods and to identify the risk factors associated with them. The working universe was composed of 25 cases (21 women with history of abortion due to genetic cause and 4 with previous history of at least a dead child as a result of congenital malformations. The same number of controls was selected. The malformations affecting the most were those of the nervous, digestive and genitourinary system. The efficacy of ultrasound in the prenatal diagnosis was 88 %, and when it was combined with the quantification of alpha fetoprotein in maternal serum it was 100 % for the diagnosis of the open congenital defects. The risk factors associated with malformations were previous family history of these defects, the toxic habits and the antecedents of threatened abortion with an attributable risk of 0.46, 0.37 and 0.32, respectively. Recommendations were made.

Noel Taboada Lugo

2006-08-01

199

Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo / Behavior of some risk factors for major congenital malformations in Ranchuelo municipality  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Se define como malformación congénita mayor a los defectos que tienen un compromiso funcional o estético importante para la vida del individuo, por lo que tienen consecuencias médicas, requieren de atención temprana, algunas veces de urgencia y, por tanto, tienen también repercusión psicosocial. Se [...] realizó un estudio analítico de casos y controles con el objetivo de clasificar las malformaciones congénitas mayores que incidieron en la mortalidad infantil o fetal en el municipio de Ranchuelo, en el período de enero de 1999 a diciembre de 2003, para determinar la efectividad de los diferentes métodos de diagnóstico prenatales e identificar los factores de riesgo que se asociaron a estas. El universo de trabajo quedó constituido por 25 casos (21 mujeres con historia de interrupción de la gestación por causa genética y 4 con antecedentes de al menos un hijo(a) fallecido por malformaciones congénitas) y se seleccionó igual cantidad de controles. Las malformaciones que más incidieron fueron las del sistema nervioso, digestivo y genitourinario. La efectividad del ultrasonido en el diagnóstico prenatal fue de 88 % y cuando se combinó con la cuantificación de Alfafeto proteína en suero materno, fue de un 100 % para el diagnóstico de los defectos congénitos abiertos. Los factores de riesgo que se asociaron con las malformaciones fueron los antecedentes familiares de estos defectos, los hábitos tóxicos y los antecedentes de amenaza de aborto, con un riesgo atribuible de 0.46, 0.37 y 0.32, respectivamente. Se hacen recomendaciones. Abstract in english Congenital malformation is defined as the defects having an important functional or aesthetic compromise for the individual's life, so they have medical consequences, require early attention, sometimes of emergency and, therefore, they also have a psychosocial impact. An analytical case-control stud [...] y was conducted aimed at classifying the major congenital malformations influencing on children or fetal mortality in Ranchuelo municipality from January 1999 to December 2003 to determine the effectivity of the different prenatal diagnostic methods and to identify the risk factors associated with them. The working universe was composed of 25 cases (21 women with history of abortion due to genetic cause and 4 with previous history of at least a dead child as a result of congenital malformations). The same number of controls was selected. The malformations affecting the most were those of the nervous, digestive and genitourinary system. The efficacy of ultrasound in the prenatal diagnosis was 88 %, and when it was combined with the quantification of alpha fetoprotein in maternal serum it was 100 % for the diagnosis of the open congenital defects. The risk factors associated with malformations were previous family history of these defects, the toxic habits and the antecedents of threatened abortion with an attributable risk of 0.46, 0.37 and 0.32, respectively. Recommendations were made.

Noel, Taboada Lugo; Clara, León Mollinedo; Suyén, Martínez Chao; Olga, Díaz Inufio; Katia, Quintero Escobar.

2006-08-01

200

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)  

Scientific Electronic Library Online (English)

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.

 
 
 
 
201

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)  

Scientific Electronic Library Online (English)

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.

202

Antenatal exposure to doxylamine succinate and dicyclomine hydrochloride (Benedectin) in relation to congenital malformations, perinatal mortality rate, birth weight, and intelligence quotient score.  

Science.gov (United States)

In a prospective cohort study of 20, 282 gravidas and their offspring, congenital malformation rates were similar in the children of over 1,000 women exposed and those not exposed to two components of Bendectin (doxylamine succinate and dicyclomine hydrochloride) during the first four lunar months of pregnancy. In a cohort reduced to 41,337 mother-child pairs for technical reasons, mean birth weight and perinatal mortality rates were similar according to exposure or nonexposure to either drug, as were intelligence quotient scores measured at four years of age in 28,358 of the children. Control of potential confounding factors with a variety of multivariate techniques did not materially alter these findings. PMID:879205

Shapiro, S; Heinonen, O P; Siskind, V; Kaufman, D W; Monson, R R; Slone, D

1977-07-01

203

Neumotórax hipertensivo como forma de presentación de una malformación adenomatoidea quística pulmonar / Tension pneumothorax as a presentation of congenital cystic adenomatoid malformation of the lung  

Scientific Electronic Library Online (English)

Full Text Available SciELO Argentina | Language: Spanish Abstract in spanish El propósito de este trabajo es examinar el caso de un paciente con una forma de presentación no habitual y grave de una patología poco frecuente, como la malformación adenomatoidea quística pulmonar. Se trata de un lactante de 50 días de vida que ingresó en la unidad de cuidados intensivos pediátri [...] cos con insuficiencia respiratoria y colapso circulatorio refractario a la expansión de volumen y los inotrópicos. La radiografía de tórax mostró una imagen radiolúcida, homogénea, en la base pulmonar derecha, que parecía corresponder a una lesión bullosa en el lóbulo inferior derecho, asociada a neumotórax homolateral. Se realizó drenaje con colocación de un tubo de avenamiento pleural y se observó una mejoría clínica posterior. Se efectuó la resección del quiste mediante lobectomía inferior derecha; el diagnóstico histopatológico fue malformación adenomatoidea quística de la vía aérea de tipo 4 (clasificación de Stocker). El paciente evolucionó favorablemente. Abstract in english The purpose of this paper is to examine the case of a 50-day-old patient with an unusual and severe presentation of a rare disease: congenital cystic adenomatoid malformation of the lung. The infant was admitted to the pediatric intensive care unit with respiratory failure and circulatory collapse r [...] efractory to intravenous fluids and inotropic drugs. Chest X-ray showed a radiolucent homogeneous image in the right lung base, suggesting bullous lesion of the right lower lobe associated with ipsilateral pneumothorax. Drainage was performed by placing a chest tube with subsequent clinical improvement. Later the cyst was resected by right lower lobectomy; the histopathological diagnosis was congenital cystic adenomatoid malformation type 4 (Stocker classification). The patient evolved favorably.

Estanislao, Díaz Pumará; M. Alejandra, Mortarini.

204

Neumotórax hipertensivo como forma de presentación de una malformación adenomatoidea quística pulmonar / Tension pneumothorax as a presentation of congenital cystic adenomatoid malformation of the lung  

Scientific Electronic Library Online (English)

Full Text Available SciELO Argentina | Language: Spanish Abstract in spanish El propósito de este trabajo es examinar el caso de un paciente con una forma de presentación no habitual y grave de una patología poco frecuente, como la malformación adenomatoidea quística pulmonar. Se trata de un lactante de 50 días de vida que ingresó en la unidad de cuidados intensivos pediátri [...] cos con insuficiencia respiratoria y colapso circulatorio refractario a la expansión de volumen y los inotrópicos. La radiografía de tórax mostró una imagen radiolúcida, homogénea, en la base pulmonar derecha, que parecía corresponder a una lesión bullosa en el lóbulo inferior derecho, asociada a neumotórax homolateral. Se realizó drenaje con colocación de un tubo de avenamiento pleural y se observó una mejoría clínica posterior. Se efectuó la resección del quiste mediante lobectomía inferior derecha; el diagnóstico histopatológico fue malformación adenomatoidea quística de la vía aérea de tipo 4 (clasificación de Stocker). El paciente evolucionó favorablemente. Abstract in english The purpose of this paper is to examine the case of a 50-day-old patient with an unusual and severe presentation of a rare disease: congenital cystic adenomatoid malformation of the lung. The infant was admitted to the pediatric intensive care unit with respiratory failure and circulatory collapse r [...] efractory to intravenous fluids and inotropic drugs. Chest X-ray showed a radiolucent homogeneous image in the right lung base, suggesting bullous lesion of the right lower lobe associated with ipsilateral pneumothorax. Drainage was performed by placing a chest tube with subsequent clinical improvement. Later the cyst was resected by right lower lobectomy; the histopathological diagnosis was congenital cystic adenomatoid malformation type 4 (Stocker classification). The patient evolved favorably.

Estanislao, Díaz Pumará; M. Alejandra, Mortarini.

2013-04-01

205

A spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations  

International Nuclear Information System (INIS)

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.)

206

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.  

Science.gov (United States)

We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping revealed linkage to a common locus on chromosome 15, and pathogenic homozygous mutations were identified in STRA6, a member of a large group of "stimulated by retinoic acid" genes encoding novel transmembrane proteins, transcription factors, and secreted signaling molecules or proteins of largely unknown function. Subsequently, homozygous STRA6 mutations were also demonstrated in 3 of 13 patients chosen on the basis of significant phenotypic overlap to the original cases. While a homozygous deletion generating a premature stop codon (p.G50AfsX22) led to absence of the immunoreactive protein in patient's fibroblast culture, structural analysis of three missense mutations (P90L, P293L, and T321P) suggested significant effects on the geometry of the loops connecting the transmembrane helices of STRA6. Two further variations in the C-terminus (T644M and R655C) alter specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group. PMID:17273977

Pasutto, Francesca; Sticht, Heinrich; Hammersen, Gerhard; Gillessen-Kaesbach, Gabriele; Fitzpatrick, David R; Nürnberg, Gudrun; Brasch, Frank; Schirmer-Zimmermann, Heidemarie; Tolmie, John L; Chitayat, David; Houge, Gunnar; Fernández-Martínez, Lorena; Keating, Sarah; Mortier, Geert; Hennekam, Raoul C M; von der Wense, Axel; Slavotinek, Anne; Meinecke, Peter; Bitoun, Pierre; Becker, Christian; Nürnberg, Peter; Reis, André; Rauch, Anita

2007-03-01

207

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  

Scientific Electronic Library Online (English)

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.

208

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

Directory of Open Access Journals (Sweden)

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

209

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  

Scientific Electronic Library Online (English)

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

210

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

211

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

Directory of Open Access Journals (Sweden)

Full Text Available 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 desenvolvimento 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.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 characterize 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

2013-06-01

212

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

Scientific Electronic Library Online (English)

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

213

Frequencies of congenital malformations: assessment and prognosis of 52,744 births in three cities of Colombia Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction. The Instituto de Genética Humana of the Pontificia Universidad Javeriana conducted an epidemiological surveillance of congenital malformations as defined by criteria provided by the Latin American Collaborative Study of Congenital Malformations.
Objective. The frequency of the main congenital malformations were tabulated for major urban centers in Colombia.
Materials and methods. Information was gathered from 52,744 newborns between April 2001 and January 2008 in three cities of Colombia (Bogotá, Ubaté and Manizales. Data included the age of mother, gestational age, gender and weight of the newborn and the congenital malformation. Cases were classified according to a prognostic scale to assess the impact of health team interventions in the recovery process.
Results. Congenital defects were noted in 3.1% of the newborns. The most frequent congenital defects were those of the ears. Clubfoot, polydactyly and cleft lip or palate were more common amongst males. The weight and gestational age were lower in the congenitally affected in comparison with the control group. The prognostic scale of congenital malformations indicated that most of these patients are at high risk of death or disability and that the intervention of the health team changed the patient´s prognosis in approximately 80% of the cases.
Conclusion. Frequencies of congenital malformations in Colombia were similar to those reported in other countries. The interventions of the health team in treating patients with congenital malformations directly affected patient prognosis. Therefore, early diagnosis and adequate interdisciplinary treatment were recommended by these data in order to reduce disability and improve the quality of life of these patients.Introducción. El Instituto de Genética Humana, de la Pontificia Universidad Javeriana, desarrolla un programa de vigilancia de malformaciones congénitas con metodologías modificadas del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas.
Objetivo. Describir la frecuencia de las principales malformaciones congénitas en el país.
Materiales y métodos. Entre abril de 2001 y enero de 2008, se obtuvo información sobre los pacientes con malformaciones congénitas y se analizaron la edad materna, la edad de gestación, el sexo y el peso del neonato, y la malformación congénita. Se clasificaron los casos según una escala de pronóstico para evaluar el impacto de la intervención del equipo de salud en la evolución de estos pacientes.
Resultados. De 52.744 nacimientos en tres ciudades, 3,12% presentó alguna malformación congénita. Las anomalías de la oreja fueron las más frecuentes. El pie equino varo, la polidactilia y el labio y paladar hendidos, afectaron más a los pacientes de sexo masculino. El peso y la edad de gestación fueron menores en el grupo de los casos que en el de los controles. La escala de pronóstico mostró un alto riesgo de mortalidad o discapacidad en 54% de los pacientes y reveló que la intervención del equipo de salud cambia el pronóstico en más de 80% de los casos.
Conclusión. Las frecuencias encontradas son similares a las del resto del mundo. La intervención del equipo de salud debe influir en el pronóstico de estas patologías. Un manejo temprano, adecuado e interdisciplinario es vital para disminuir la discapacidad y mejorar la calidad de vida de estos pacientes.

Nicolás Fernández

2010-03-01

214

Frecuencia de malformaciones congénitas: evaluación y pronóstico de 52.744 nacimientos en tres ciudades colombianas / Frequencies of congenital malformations: assessment and prognosis of 52,744 births in three cities of Colombia  

Scientific Electronic Library Online (English)

Full Text Available SciELO Colombia | Language: Spanish Abstract in spanish Introducción. El Instituto de Genética Humana, de la Pontificia Universidad Javeriana, desarrolla un programa de vigilancia de malformaciones congénitas con metodologías modificadas del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas. Objetivo. Describir la frecuencia de las princi [...] pales malformaciones congénitas en el país. Materiales y métodos. Entre abril de 2001 y enero de 2008, se obtuvo información sobre los pacientes con malformaciones congénitas y se analizaron la edad materna, la edad de gestación, el sexo y el peso del neonato, y la malformación congénita. Se clasificaron los casos según una escala de pronóstico para evaluar el impacto de la intervención del equipo de salud en la evolución de estos pacientes. Resultados. De 52.744 nacimientos en tres ciudades, 3,12% presentó alguna malformación congénita. Las anomalías de la oreja fueron las más frecuentes. El pie equino varo, la polidactilia y el labio y paladar hendidos, afectaron más a los pacientes de sexo masculino. El peso y la edad de gestación fueron menores en el grupo de los casos que en el de los controles. La escala de pronóstico mostró un alto riesgo de mortalidad o discapacidad en 54% de los pacientes y reveló que la intervención del equipo de salud cambia el pronóstico en más de 80% de los casos. Conclusión. Las frecuencias encontradas son similares a las del resto del mundo. La intervención del equipo de salud debe influir en el pronóstico de estas patologías. Un manejo temprano, adecuado e interdisciplinario es vital para disminuir la discapacidad y mejorar la calidad de vida de estos pacientes. Abstract in english Introduction. The Instituto de Genética Humana of the Pontificia Universidad Javeriana conducted an epidemiological surveillance of congenital malformations as defined by criteria provided by the Latin American Collaborative Study of Congenital Malformations. Objective. The frequency of the main con [...] genital malformations were tabulated for major urban centers in Colombia. Materials and methods. Information was gathered from 52,744 newborns between April 2001 and January 2008 in three cities of Colombia (Bogotá, Ubaté and Manizales). Data included the age of mother, gestational age, gender and weight of the newborn and the congenital malformation. Cases were classified according to a prognostic scale to assess the impact of health team interventions in the recovery process. Results. Congenital defects were noted in 3.1% of the newborns. The most frequent congenital defects were those of the ears. Clubfoot, polydactyly and cleft lip or palate were more common amongst males. The weight and gestational age were lower in the congenitally affected in comparison with the control group. The prognostic scale of congenital malformations indicated that most of these patients are at high risk of death or disability and that the intervention of the health team changed the patient´s prognosis in approximately 80% of the cases. Conclusion. Frequencies of congenital malformations in Colombia were similar to those reported in other countries. The interventions of the health team in treating patients with congenital malformations directly affected patient prognosis. Therefore, early diagnosis and adequate interdisciplinary treatment were recommended by these data in order to reduce disability and improve the quality of life of these patients.

Ignacio, Zarante; Liliana, Franco; Catalina, López; Nicolás, Fernández.

215

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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 departamentos 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 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 provinces, 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 < 0.05 at all levels of political organization. The SDEI explained 41% of the %DCM. CONCLUSIONS: The IMRCM was not significantly associated with the country's marked socioeconomic heterogeneity; the highest %DCM values, on the other hand, were observed in the populations of the central and southern areas of the country. Given the relationship between the %DCM and socioeconomic development of the population, use of this indicator as a proxy of well-being and quality of life is suggested.

Rubén A. Bronberg

2012-06-01

216

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.

217

Screening for bovine leukocyte adhesion deficiency, deficiency of uridine monophosphate synthase, complex vertebral malformation, bovine citrullinaemia, and factor XI deficiency in Holstein cows reared in Turkey  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Background Bovine leukocyte adhesion deficiency (BLAD, deficiency of uridine monophosphate synthase (DUMPS, complex vertebral malformation (CVM, bovine citrullinaemia (BC and factor XI deficiency (FXID are autosomal recessive hereditary disorders, which have had significant economic impact on dairy cattle breeding worldwide. In this study, 350 Holstein cows reared in Turkey were screened for BLAD, DUMPS, CVM, BC and FXID genotypes to obtain an indication on the importance of these defects in Turkish Holsteins. Methods Genomic DNA was obtained from blood and the amplicons of BLAD, DUMPS, CVM, BC and FXID were obtained by using PCR. PCR products were digested with TaqI, AvaI and AvaII restriction enzymes for BLAD, DUMPS, and BC, respectively. These digested products and PCR product of FXID were analyzed by agarose gel electrophoresis stained with ethidium bromide. CVM genotypes were detected by DNA sequencing. Additionally, all genotypes were confirmed by DNA sequencing to determine whether there was a mutant allele or not. Results Fourteen BLAD, twelve CVM and four FXID carriers were found among the 350 Holstein cows examined, while carriers of DUMPS and BC were not detected. The mutant allele frequencies were calculated as 0.02, 0.017, and 0.006 for BLAD, CVM and FXID, respectively with corresponding carrier prevalence of 4.0% (BLAD, 3.4% (CVM and 1.2% (FXID. Conclusion This study demonstrates that carriers of BLAD, CVM and FXID are present in the Turkish Holstein population, although at a low frequency. The actual number of clinical cases is unknown, but sporadic cases may appear. As artificial insemination is widely used in dairy cattle breeding, carriers of BLAD, CVM and FXID are likely present within the population of breeding sires. It is recommended to screen breeding sires for these defective genes in order to avoid an unwanted spread within the population.

Agerholm Jørgen S

2010-10-01

218

Acquired Chiari Malformation: Safety of Neuraxial Anesthesia?  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Chiari malformation is a congenital anomaly that primarily involves the downward displacement of the cerebellar tonsils through the foramen magnum and elongation of forth ventricle and lower brainstem. Patients with Chiari I (congenital or acquired) malformation are asymptomatic or may presents with neurologic signs and symptoms. It is always a question of safety of neuraxi...

Dalal, Twinkal P.; Taruna Penmetcha; Maria Torres; Ramsis Ghaly

2013-01-01

219

Health audit survey in the high level natural radiation areas of Kerala coast: prevalence of congenital malformations, late onset diseases and untoward pregnancy outcomes in the study area  

International Nuclear Information System (INIS)

A total population of 2,52,735 was surveyed (1,24,246 males, 1,28,489 females; (sex ratio 1000:1034). congenital malformation was reported among 2951 individuals with a frequency of 1.17%. The percentage of individuals with birth defects ranged from 1% in Oachira to 1.46% in Neendakara. At least one of the late onset diseases were reported in 33,199 (13.14%) individuals. Percentage of individuals with any of the late onset diseases ranged from 10.7% in Panmana to 17.9% in Alappad. The distribution of birth defects is the eight panchayats is similar (both Kruskal Wallis and median test P > .20) whereas the distribution of late onset disease does not appear to be similar in all the panchayats (Kruskal Wallis chi-square with 7 d.f = 32.3, P < .001; median test chi-square with 7 d.f. = 15.1; P= .035). The frequency of late onset diseases among males and females in different age groups suggest that females in the age group of 30-59 report more late onset disease than their male counterparts

220

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

 
 
 
 
221

Cerebral malformations without antenatal diagnosis  

International Nuclear Information System (INIS)

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.)

222

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

223

Conocimientos de los internos de medicina sobre el programa del diagnóstico prenatal de malformaciones congénitas Knowledge medical internists have about antenatal diagnosis of congenital malformations  

Directory of Open Access Journals (Sweden)

Full Text Available RESUMEN La mortalidad perinatal ha descendido a cifras difícilmente modificables. El diagnóstico de las malformaciones fetales se ha convertido en el "caballo de batalla" de la nueva obstetricia. Entrevistamos a 50 internos de medicina de un total de 124, con el objetivo de evaluar el nivel de conocimiento concluido su 6to año, sobre el diagnóstico prenatal de malformaciones congénitas, durante su rotación de gineco-obstetricia en el curso 2007-2008. Del total de estudiantes encuestados solo 19 respondieron correctamente el 50% de la encuesta y ninguno respondió el 100%. Existen dificultades con el nivel de conocimiento de los estudiantes de medicina sobre el valor interpretativo del ultrasonido de programa, las indicaciones de un ECO fetal y la importancia de la genética comunitaria. Por los resultados obtenidos en este trabajo recomendamos revisar y ampliar el programa docente de los internos y estudiantes de medicina, incluyendo conferencias, seminarios y actividades que respondan al contenido obstétrico, genético y comunitario necesarios para promover cada día mejores resultados en el desarrollo del programa materno infantil de la comunidad.ABSTRACT Antenatal mortality has decreased to hardly modifiable figures. The diagnosis of fetal malformations has become into "the hobbyhorse" of the new obstetrics. To conduct this research paper 50 medical interns out of the total of 124 were interviewed to assess the level of knowledge they had about antenatal diagnosis of congenital malformations during their rotation in the specialty of gynecology when ending the 6th academic year 2007-2008 of the medical studies. Only 19 medical students, of the 50 interviewed, answered the questionnaire correctly in 50%, none of them answered it entirely. There were dificulties in the level of knowledge of the medical students when reading the results of the ultrasound, the indications of a fetal ecocardiography and the importance of the community genetics. Due to the results obtained in this research paper, it was recommended to revise and to extend the syllabus of the internists and medical students including lectures, seminars and activities which respond to the development of the maternal-child care program of the community.

Mairyn Hidalgo Musa

2009-09-01

224

Conocimientos de los internos de medicina sobre el programa del diagnóstico prenatal de malformaciones congénitas / Knowledge medical internists have about antenatal diagnosis of congenital malformations  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish RESUMEN La mortalidad perinatal ha descendido a cifras difícilmente modificables. El diagnóstico de las malformaciones fetales se ha convertido en el "caballo de batalla" de la nueva obstetricia. Entrevistamos a 50 internos de medicina de un total de 124, con el objetivo de evaluar el nivel de conoc [...] imiento concluido su 6to año, sobre el diagnóstico prenatal de malformaciones congénitas, durante su rotación de gineco-obstetricia en el curso 2007-2008. Del total de estudiantes encuestados solo 19 respondieron correctamente el 50% de la encuesta y ninguno respondió el 100%. Existen dificultades con el nivel de conocimiento de los estudiantes de medicina sobre el valor interpretativo del ultrasonido de programa, las indicaciones de un ECO fetal y la importancia de la genética comunitaria. Por los resultados obtenidos en este trabajo recomendamos revisar y ampliar el programa docente de los internos y estudiantes de medicina, incluyendo conferencias, seminarios y actividades que respondan al contenido obstétrico, genético y comunitario necesarios para promover cada día mejores resultados en el desarrollo del programa materno infantil de la comunidad. Abstract in english ABSTRACT Antenatal mortality has decreased to hardly modifiable figures. The diagnosis of fetal malformations has become into "the hobbyhorse" of the new obstetrics. To conduct this research paper 50 medical interns out of the total of 124 were interviewed to assess the level of knowledge they had a [...] bout antenatal diagnosis of congenital malformations during their rotation in the specialty of gynecology when ending the 6th academic year 2007-2008 of the medical studies. Only 19 medical students, of the 50 interviewed, answered the questionnaire correctly in 50%, none of them answered it entirely. There were dificulties in the level of knowledge of the medical students when reading the results of the ultrasound, the indications of a fetal ecocardiography and the importance of the community genetics. Due to the results obtained in this research paper, it was recommended to revise and to extend the syllabus of the internists and medical students including lectures, seminars and activities which respond to the development of the maternal-child care program of the community.

Mairyn, Hidalgo Musa; Analiz de Paula, Paredes; Miriam, Musa Rodríguez; Mabel, Reyes Llanes; Marlén, González Martínez.

2009-09-01

225

Mortalidad infantil por malformaciones congénitas: Chile, 1985-2001 / Infant mortality for congenital malformations, Chile, 1985-2001  

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in spanish En Chile, la mortalidad infantil (MI) ha bajado drásticamente en un plazo relativamente breve de tiempo. Las malformaciones congénitas y cromosomopatías (MCyC) ocupan el segundo lugar como causa de muerte en menores de 1 año. Por lo anterior, se presenta este trabajo cuyo propósito es aportar al con [...] ocimiento de la MI por MCyC, mostrando la evolución y características que ha tenido entre 1985 y el año 2001 y comparando información sociodemográfica de la MI por MCyC con aquella producida por otras causas Abstract in english Infant mortality (IM) has decreased in Chile during a short period of time. One of the most important causes of death, in infants under 1 year of age, are congenital and chromosomal malformationes (CCM). This study aims to describe the evolution and characteristics of IM in terms of CCMs between the [...] years 1985 and 2001 and to compare the IM caused by CCMs and those due to other causes in Chile

Jorge, Szot M.

226

Características generales de la atención a recién nacidos con malformaciones congénitas en un hospital infantil / General characteristics of care to the newborn with congenital malformations in a children hospital  

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Se hizo un estudio descriptivo, transversal y retrospectivo de 218 neonatos que presentaron malformaciones congénitas en cualquier aparato o sistema, atendidos en el Servicio Abierto de Neonatología del Hospital Infantil Norte "Dr. Juan de la Cruz Martínez Maceira", desde enero del 2001 hasta diciem [...] bre del 2007, a fin de caracterizarles según variables de interés para la investigación. En la serie predominaron el sexo masculino y los recién nacidos a término con peso normal. Las malformaciones más frecuentes resultaron ser las aisladas y entre ellas las digestivas y cardiovasculares. El diagnóstico prenatal fue de baja efectividad y la mortalidad mínima, generalmente causada por malformaciones congénitas múltiples. Abstract in english A descriptive, cross-sectional and retrospective study of 218 neonates that presented congenital malformations in any apparatus or system, assisted in the Open Service of Neonatology of "Dr. Juan de la Cruz Martínez Maceira" Northern Children Hospital was carried out, from January , 2001 to December [...] , 2007, in order to characterize them according to variables of interest for the investigation. The male sex and the full- term newborns with normal weight prevailed in the series. The most frequent malformations were the isolated ones and among them the digestive and cardiovascular ones. The prenatal diagnosis was of low effectiveness and mortality was low, generally caused by multiple congenital malformations.

Celia, Montes Zamora; Yasmina, Parra Pérez; María de los Ángeles, Balcindes Sánchez; Yuralkis, Reza Torres.

2137-21-01

227

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

228

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.

229

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

230

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

231

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.

232

[A rare case of bladder exstrophy with a completely malformed complex in a girl].  

Science.gov (United States)

Report of the observation of a female newborn presenting a complex malformative set: distal anorectal malformation without fistula; bladder exstrophy without epispadias, with cutaneous bridge; congenital urethrovaginal fistula; malformative sexual ambiguity with bulky genital tubercle, whole urethra, urethral meatus on the apex of the genital tubercle, associated with a mid labial genital joint and a high genital orifice; unilateral multicystic kidney; vertebral abnormalities with supernumerary thoracolumbar vertebrae; no karyotype abnormalities and no familial pathological history; no endocrine abnormalities. The therapeutic multistage program permitted a good reconstruction of the different lesion, particularly with bladder functioning witch in hope a good continence with two years of follow-up. No similar case is reviewed in the literature. PMID:2091849

Dyon, J F; Sabatier, E; Dodat, H; Andrini, P; Baudain, P; Alibeu, J P

1990-01-01

233

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

234

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.

235

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

236

Prevention of congenital malformations and other adverse pregnancy outcomes with 4.0 mg of folic acid: community-based randomized clinical trial in Italy and the Netherlands  

Science.gov (United States)

Background In 2010 a Cochrane review confirmed that folic acid (FA) supplementation prevents the first- and second-time occurrence of neural tube defects (NTDs). At present some evidence from observational studies supports the hypothesis that FA supplementation can reduce the risk of all congenital malformations (CMs) or the risk of a specific and selected group of them, namely cardiac defects and oral clefts. Furthermore, the effects on the prevention of prematurity, foetal growth retardation and pre-eclampsia are unclear. Although the most common recommendation is to take 0.4 mg/day, the problem of the most appropriate dose of FA is still open. The aim of this project is to assess the effect a higher dose of peri-conceptional FA supplementation on reducing the occurrence of all CMs. Other aims include the promotion of pre-conceptional counselling, comparing rates of selected CMs, miscarriage, pre-eclampsia, preterm birth, small for gestational age, abruptio placentae. Methods/Design This project is a joint effort by research groups in Italy and the Netherlands. Women of childbearing age, who intend to become pregnant within 12 months are eligible for the studies. Women are randomly assigned to receive 4 mg of FA (treatment in study) or 0.4 mg of FA (referent treatment) daily. Information on pregnancy outcomes are derived from women-and-physician information. We foresee to analyze the data considering all the adverse outcomes of pregnancy taken together in a global end point (e.g.: CMs, miscarriage, pre-eclampsia, preterm birth, small for gestational age). A total of about 1,000 pregnancies need to be evaluated to detect an absolute reduction of the frequency of 8%. Since the sample size needed for studying outcomes separately is large, this project also promotes an international prospective meta-analysis. Discussion The rationale of these randomized clinical trials (RCTs) is the hypothesis that a higher intake of FA is related to a higher risk reduction of NTDs, other CMs and other adverse pregnancy outcomes. Our hope is that these trials will act as catalysers, and lead to other large RCTs studying the effects of this supplementation on CMs and other infant and maternal outcomes. Trial registration Italian trial: ClinicalTrials.gov Identifier: NCT01244347. Dutch trial: Dutch Trial Register ID: NTR3161. PMID:24884885

2014-01-01

237

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

238

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

239

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

240

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.

 
 
 
 
241

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.

242

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  

Directory of Open Access Journals (Sweden)

Full Text Available 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.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, in 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

2012-12-01

243

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.

244

congenital anomalies  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital anomalies in conjunction with intrauterine growth restriction account for 50-60% of fetal mortality. This article describes major birth defects by systems; most can be diagnosed by ultrasound while others cannot. Some anomalies develop later in pregnancy and in some cases sonographic examination may suggest the presence of a nonexistent abnormality. Incidence, etiology and risk factors of congenital malformations are described, as well as the importance and characteristics of prenatal diagnosis and prevention through folic acid supplementation in the diet.

Bernardita Donoso Bernales

2012-10-01

245

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

246

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.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

247

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 ...

248

[Oto-vertebral syndrome].  

Science.gov (United States)

The oto-vertebral syndrome is supposed to be caused by an early embryonic exogenous damage which at the same time affects the development of the ear and vertebral column and possibly also causes cardiac anomalies. Animal studies showed that the malformation syndrome originates in the 6th-7th week of embryonic development. The extent of the malformations of the ear and the vertebral column varies. Frequently seen are dysplasia of the external ear and dystopia and atresia of the external ear canal as well as vertebral malformations, mostly involving the thoracic region. Only 4 case reports have been published in the literature. The differential diagnosis includes Goldenhar-syndrome, oculo-vertebral syndrome. Thalidomide-syndrome and chromosomal aberrations. Therapy depends on the extent of the malformations. In case of atresia of the ear canal hearing is first of all improved with a hearing aid, operative procedures are to be planned later on. Child development is promoted with acustic stimulation. PMID:1225802

Böggering, B

1975-10-23

249

Malformação congénita das vias aéreas pulmonares: Experiência de cinco centros / Congenital cystic adenomatoid malformation of the lung: The experience of five medical centres  

Scientific Electronic Library Online (English)

Full Text Available SciELO Portugal | Language: Portuguese Abstract in portuguese Introdução: O espectro clínico da malformação adenomatóide cística pulmonar congénita (MACPC) varia desde lesões assintomáticas e dificuldade respiratóriano recém-nascido a hidrópsia fetal. Objectivos: Avaliação da casuística de MACPC, realçando a história natural, tratamento e evolução. Material e [...] métodos: Análise retrospectiva dos processos clínicos de todos os recém-nascidos com o diagnóstico de MACPC, admitidos nas unidades de cuidados intensivos neonatais de cinco centros terciários do Norte de Portugal, entre 1996 e 2005. Resultados: Foram identificados 15 recém-nascidos, 9F/6M, peso ao nascimento 3100 g (645-3975), idade gestacional de 38 semanas (24-40). A incidência de MACPC foi de 1:9300 nascimentos. Onze (73%) recém-nascidos apresentaram diagnóstico pré-natal de lesão pulmonar cística pelas 22 semanas (19-30). Esta ocorreu no hemitórax direito em seis (40%) casos e no lado esquerdo em 9 (60%). Foi documentada regressão in utero da lesão em dois casos. Foi necessária intervenção ante-natal (pleurocentese e colocação de derivação toraco-amniótica) num feto com hidrópsia fetal. Ao nascimento, cinco recém-nascidos apresentaram radiografia de tórax dentro da normalidade, sendo a tomografia axial computorizada diagnóstica da lesão. Três (20%) recém-nascidos tornaram-se sintomáticos durante o período neonatal (dificuldade respiratória) e um (7%) após o período neonatal (pneumotórax espontâneo). Dois (13%) faleceram. Seis (40%) doentes foram submetidos a toracotomia e exérese da lesão. O estudo anatomopatológico demonstrou achados definitivos de MACPC (classificação de Stoker: tipo I = 4; tipo II = 1; tipo III = 2). Oito (53%) crianças mantiveram-se assintomáticas e permanecem em vigilância clínica. Conclusões: A MACPC com diagnóstico pré-natal tem bom prognóstico na ausência de sofrimento fetal; uma radiografia de tórax sem alterações ao nascimento não exclui MACPC; o tratamento da lesão assintomática é controverso; a cirurgia está indicada devido à baixa morbilidade e possibilidade de prevenção de complicações tardias, como a degenerescência maligna. Abstract in english Background: The clinical spectrum of congenital cystic adenomatoid malformation of the lung (CCAML) ranges from asymptomatic lesions to neonatal respiratory distress and hydrops fetalis. Aim: To review our experience with CCAML, emphasising natural history, management and outcome. Material and metho [...] ds: A retrospective chart review of all CCAML-diagnosed neonates admitted to the neonatal intensive care units of five tertiary medical centres in the north of Portugal between 1996 and 2005. Results: Fifteen neonates with CCAML were identified, 9F/6M, birth weight 3100 g (645-3975), gestational age 38 weeks (24-40). The incidence of CCAML was 1: 9300 births. There were 11 (73%) cases of cystic lung lesion diagnosed during pregnancy, median age 22 weeks (19-30). The lesion was right sided in six (40%) and left sided in nine (60%) cases. In utero spontaneous regression of the lesion was observed in two cases. Antenatal intervention (pleurocentesis and thoracoamniotic shunting) was performed in one foetus with impending hydrops. Normal lung radiographic findings at birth were present in five cases, with an abnormal CT scan. Three (20%) neonates became symptomatic during the neonatal period (respiratory distress) and one (70%) after the neonatal period (spontaneous pneumothorax). Two neonates (13%) died. Six (40%) patients underwent thoracotomy and appropriate excisional surgery. Histological examination showed definitive features of CCAML (Stocker classification: type I = 4; type II = 1; type III = 2). Eight (53%) patients remain asymptomatic and did not undergo surgery. Conclusions: Antenatally diagnosed CCAML has a good prognosis in the absence of severe foetal distress; normal radiographic findings at birth do not rule out CCAML; treatment of asymptomatic CCAML is controversial

Gustavo, Rocha; Paula Cristina, Fernandes; Elisa, Proença; Conceição, Quintas; Teresa, Martins; Inês, Azevedo; Hercília, Guimarães.

250

Visual Fixation in Chiari Type II Malformation  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Chiari type II malformation is a congenital deformity of the hindbrain. Square wave jerks are horizontal involuntary saccades that interrupt fixation. Cerebellar disorders may be associated with frequent square wave jerks or saccadic oscillations such as ocular flutter. The effects of Chiari type II malformation on visual fixation are unknown. We recorded eye movements using an eye tracker in 21 participants with Chiari type II malformation, aged 8 to 19 years while they fixated a target for ...

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

2009-01-01

251

Bilateral inverted vertebral arteries (V3 segment) in a case of congenital atlantoaxial dislocation: Distinct entity or a lateral variant of persistent first intersegmental artery?  

Science.gov (United States)

Background: Anomalous vertebral arteries (VAs), commonly involving the persistent first intersegmental artery (FIA), are often seen with congenital atlantoaxial dislocations (AAD). Here we describe an unusual variant consisting of bilateral VAs with normal loops but passing below the C1 (inverted VA) arch, distinctly different from the FIA. Case Description: A 9-year-old boy presented with a spastic quadriparesis. Preoperative radiographic studies showed an irreducible AAD with an occipitalized CO-C1 and C2-3 fusion. Although both VAs exhibited proximal and distal loops like normal VA, the distal loops did not pass through the C1 transverse foramina and coursed inferior to the C1 arch instead. With this critical preoperative information, both VAs could be better safeguarded during dissection of the C1-2 facets. Conclusion: In the case presented, although the course of the inverted VAs is similar, the norm, they coursed inferior to both C1 arches. Careful evaluation of the preoperative radiological studies allowed for careful dissection of the inverted VA (horizontal loop) while opening the C1-2 joint for subsequent alignment (e.g. reduction) and bony fusion. This information also facilitates safer insertion of lateral mass screws (e.g. choosing the appropriate C1 screw length to gain adequate bony purchase without compromising anomalous VA). PMID:25024882

Salunke, Pravin; Sahoo, Sushanta K.; Ghuman, Mandeep S.

2014-01-01

252

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

253

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.)

254

La mortalidad infantil por malformaciones congénitas en México: un problema de oportunidad y acceso al tratamiento / Infant mortality from congenital malformations in Mexico: an issue of opportunity and access to treatment  

Scientific Electronic Library Online (English)

Full Text Available SciELO Public Health | Language: Spanish Abstract in spanish OBJETIVOS: Caracterizar el comportamiento del Sistema Nacional de Salud (SNS) de México en la tarea de reducir el número de muertes por malformaciones congénitas mediante el análisis de la tendencia de las tasas de mortalidad infantil específicas por esas afecciones. MÉTODOS: Análisis de series de t [...] iempos de las defunciones de niños y niñas menores de 1 año entre 1980 y 2005, según las bases de datos nacionales anuales de mortalidad de la Secretaría de Salud de México. Se calcularon las tasas de mortalidad infantil específicas (TMIe) por malformaciones congénitas graves más frecuentes en México: defectos del tubo neural, hernia diafragmática congénita, exonfalos (onfalocele y gastrosquisis) y malformaciones cardíacas y del tubo digestivo, agrupadas según el grado de urgencia y de sofisticación tecnológica que demanda su tratamiento y el desenlace más frecuente. RESULTADOS: Entre 1980 y 2005, la tasa de mortalidad infantil en México descendió de 40,7 a 16,9 por 1 000 nacimientos (? = -0,86; P Abstract in english OBJECTIVES: To evaluate the role that Mexico's National Health System (Sistema Nacional de Salud-SNS) has played in the task of reducing the number of deaths due to congenital malformations through a trends analysis of cause-specific infant mortality rates (IMRcs). METHODS: Time-series analysis of d [...] eaths of boys and girls under 1 year of age from 1980-2005, according to databases of national and annual mortality maintained by the Secretariat of Health of Mexico. Cause-specific mortality rates were calculated for the most frequently occurring, severe, congenital malformations in Mexico: neural tube defects, diaphragmatic hernias, exomphalos (omphalocele and gastroschisis), and heart and digestive tract defects, grouped according to severity, degree of technological sophistication required for treatment, and most frequent outcome. RESULTS: From 1980-2005, the infant mortality rate in Mexico decreased from 40.7 to 16.9 per 1 000 births (? = -0.86; P

Alejandro V., Gómez-Alcalá; Ramón A., Rascón-Pacheco.

2008-11-01

255

La mortalidad infantil por malformaciones congénitas en México: un problema de oportunidad y acceso al tratamiento / Infant mortality from congenital malformations in Mexico: an issue of opportunity and access to treatment  

Scientific Electronic Library Online (English)

Full Text Available SciELO Public Health | Language: Spanish Abstract in spanish OBJETIVOS: Caracterizar el comportamiento del Sistema Nacional de Salud (SNS) de México en la tarea de reducir el número de muertes por malformaciones congénitas mediante el análisis de la tendencia de las tasas de mortalidad infantil específicas por esas afecciones. MÉTODOS: Análisis de series de t [...] iempos de las defunciones de niños y niñas menores de 1 año entre 1980 y 2005, según las bases de datos nacionales anuales de mortalidad de la Secretaría de Salud de México. Se calcularon las tasas de mortalidad infantil específicas (TMIe) por malformaciones congénitas graves más frecuentes en México: defectos del tubo neural, hernia diafragmática congénita, exonfalos (onfalocele y gastrosquisis) y malformaciones cardíacas y del tubo digestivo, agrupadas según el grado de urgencia y de sofisticación tecnológica que demanda su tratamiento y el desenlace más frecuente. RESULTADOS: Entre 1980 y 2005, la tasa de mortalidad infantil en México descendió de 40,7 a 16,9 por 1 000 nacimientos (? = -0,86; P Abstract in english OBJECTIVES: To evaluate the role that Mexico's National Health System (Sistema Nacional de Salud-SNS) has played in the task of reducing the number of deaths due to congenital malformations through a trends analysis of cause-specific infant mortality rates (IMRcs). METHODS: Time-series analysis of d [...] eaths of boys and girls under 1 year of age from 1980-2005, according to databases of national and annual mortality maintained by the Secretariat of Health of Mexico. Cause-specific mortality rates were calculated for the most frequently occurring, severe, congenital malformations in Mexico: neural tube defects, diaphragmatic hernias, exomphalos (omphalocele and gastroschisis), and heart and digestive tract defects, grouped according to severity, degree of technological sophistication required for treatment, and most frequent outcome. RESULTS: From 1980-2005, the infant mortality rate in Mexico decreased from 40.7 to 16.9 per 1 000 births (? = -0.86; P

Alejandro V., Gómez-Alcalá; Ramón A., Rascón-Pacheco.

256

Os profissionais de Enfermagem diante do nascimento da criança com malformação congênita / Nursing professionals before of the birth of a child with congenital malformation / Los profesionales de Enfermería en el nacimiento de un niño con malformación congénita  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese Estudo de natureza qualitativa utilizou o Método História de Vida e teve por objeto de estudo a percepção da equipe de enfermagem de sua experiência em atuar no nascimento de uma criança portadora de malformação congênita. Os resultados permitiram a construção de três categorias temáticas: a percepç [...] ão da equipe de enfermagem ao assistir o nascimento de uma criança com malformação congênita; as estratégias empregadas pela equipe de enfermagem; e os fatores que influenciam a atuação da equipe. O estudo evidenciou que a experiência de atuar no nascimento de criança malformada é percebida tanto como uma experiência prazerosa e gratificante quanto como uma experiência estressante e incômoda. A percepção dessa experiência é influenciada pela história de vida do indivíduo; processo de formação do profissional; tempo de atuação e suporte institucional em relação aos aspectos técnicos, científicos e emocionais. Abstract in spanish Estudio de naturaleza cualitativa que utilizó el Método Historia de Vida y tuvo por objeto de estudio la percepción del equipo de enfermería a través de la experiencia en actuar al nacimiento de un niño portador de malformación congénita. Los resultados permitieron la construcción de tres categorías [...] temáticas: La percepción del equipo de enfermería al asistir el nacimiento de un niño con malformación congénita; Las estrategias empleadas por el equipo de enfermería; y los factores que influencian la actuación del equipo. El estudio evidenció que la experiencia de actuar en el nacimiento de un niño malformado es percibida tanto como una experiencia que da placer y que gratifica, así como una experiencia estresante e incómoda. La percepción de esa experiencia es influenciada por la historia de vida del individuo; proceso de formación del profesional; tiempo de actuación y soporte institucional en relación a los aspectos técnicos, científicos y emocionales. Abstract in english Study of qualitative nature that used the History of Life Method and had as study subject the perception of the nursing staff about the experience acting in a child's birth with congenital malformation. The result allowed the construction of three thematic categories: the perception of the nursing s [...] taff when attending a child's birth with congenital malformation; the strategies used by the nursing team; and the factors that infuse on the performance of the team. The study evidenced that the experience of acting in malformed child's birth is noticed as much a pleased and gratifying experience, as a stressful and uncomfortable experience. The perception of that experience is influenced by the history of the individual's life; process of the professional's formation; time of performance and institutional support, concerning to the relation to the technical aspects, scientific and emotional ones.

Iêda Maria Ávila Vargas, Dias; Rosangela da Silva, Santos.

2007-03-01

257

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.)

258

Horseshoe lung and facio-auriculo-vertebral sequence: a previously unreported association.  

Science.gov (United States)

We describe a case of horseshoe lung in an infant with facio-auriculo-vertebral (FAV) sequence that included mild hemifacial microsomia, ear anomalies, a missing left rib, left hemivertebrae (T2-T4), and complex congenital heart disease. Of the approximately 40 cases of horseshoe lung described since 1962, most are reported in association with scimitar syndrome, and only four reported cases were associated with left lung hypoplasia. None of these cases included malformations consistent with a diagnosis of FAV sequence. PMID:16617456

D'Alessandro, Lisa; Kovesi, Tom; Massoud, Sherief; Lougheed, Jane; Hunter, Alasdair; Reisman, Joseph

2006-06-01

259

DLX5, FGF8 and the Pin1 isomerase control ?Np63? protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations  

Science.gov (United States)

Ectrodactyly, or Split-Hand/Foot Malformation (SHFM), is a congenital condition characterized by the loss of central rays of hands and feet. The p63 and the DLX5;DLX6 transcription factors, expressed in the embryonic limb buds and ectoderm, are disease genes for these conditions. Mutations of p63 also cause the ectodermal dysplasia–ectrodactyly–cleft lip/palate (EEC) syndrome, comprising SHFM. Ectrodactyly is linked to defects of the apical ectodermal ridge (AER) of the developing limb buds. FGF8 is the key signaling molecule in this process, able to direct proximo-distal growth and patterning of the skeletal primordial of the limbs. In the limb buds of both p63 and Dlx5;Dlx6 murine models of SHFM, the AER is poorly stratified and FGF8 expression is severely reduced. We show here that the FGF8 locus is a downstream target of DLX5 and that FGF8 counteracts Pin1–?Np63? interaction. In vivo, lack of Pin1 leads to accumulation of the p63 protein in the embryonic limbs and ectoderm. We show also that ?Np63? protein stability is negatively regulated by the interaction with the prolyl-isomerase Pin1, via proteasome-mediated degradation; p63 mutant proteins associated with SHFM or EEC syndromes are resistant to Pin1 action. Thus, DLX5, p63, Pin1 and FGF8 participate to the same time- and location-restricted regulatory loop essential for AER stratification, hence for normal patterning and skeletal morphogenesis of the limb buds. These results shed new light on the molecular mechanisms at the basis of the SHFM and EEC limb malformations. PMID:24569166

Restelli, Michela; Lopardo, Teresa; Lo Iacono, Nadia; Garaffo, Giulia; Conte, Daniele; Rustighi, Alessandra; Napoli, Marco; Del Sal, Giannino; Perez-Morga, David; Costanzo, Antonio; Merlo, Giorgio Roberto; Guerrini, Luisa

2014-01-01

260

Chiari Malformation  

Science.gov (United States)

... version (209 KB) Table of Contents (click to jump to sections) '); What are Chiari malformations? What causes ... to the left or right; and kyphosis, a forward bending of the spine. Spinal curvature is seen ...

 
 
 
 
261

Perosomus elumbis (vertebral agenesis and arthrogryposis) in a stillborn Holstein calf.  

Science.gov (United States)

Perosomus elumbis, an infrequently encountered congenital anomaly of unknown etiology, was studied in a female Holstein calf. This error of morphogenesis represents a set of multiorgan malformations that produce a deformity of the caudal one third of the fetus. In this case, the spinal and pelvic malformations were radiographed and then dissected. Intra-abdominal abnormalities of the soft tissues are also described. The normal sequential embryologic development of the vertebrate skeleton, anterior-posterior fetal positioning, and neural tube migration are discussed. An extensive literature of this birth defect in cattle (and sheep) is reveiwed. The reports from a period covering 165 years are compared with the pathologic features in this case. Chromosomal aberrations within the homeobox gene family are postulated to be contributory factors in the development of this type of dysorganogenesis. PMID:9921758

Jones, C J

1999-01-01

262

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

263

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.

264

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

265

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

266

Headache precipitated by Valsalva maneuvers in patients with congenital Chiari I malformation / Cefaléia precipitada por manobras de Valsalva em pacientes com malformação congênita de Chiari tipo I  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese Neste estudo, objetivou-se caracterizar a cefaléia desencadeada por manobra de Valsalva, em portadores de malformação de Chiari tipo 1 (MC-1). Foram avaliados 19 pacientes com idades variando entre 30 e 75 anos. Dentre estes, 10 apresentaram cefaléia. A região mais acometida foi a occipital (80%) e [...] frontal (60%). A cefaléia foi de duração bem menor nas mulheres em relação aos homens. A freqüência da cefaléia foi relativamente alta, com todos os pacientes apresentando pelo menos um episódio por mês. Os principais fatores desencadeantes foram a tosse, que já é bem descrita pela literatura, e a atividade sexual, que apenas recentemente foi associada a MC-1. Abstract in english The objective of this study was to characterize the headache precipitated by Valsalva maneuvers associated with Chiari type I malformation (CM-1). Nineteen patients were evaluated, with ages ranging from 30 to 75 years. Ten of them presented headache. Pain was more prevalent in the occipital (80%) a [...] nd frontal region (60%). The headaches were of significantly shorter duration in the women compared with the men. The frequency of headache crises was relatively high. All patients with Valsalva-related headache suffered from at least one episode per month. The most prevalent precipitating factors were coughing, which is well described in the literature, and sexual activity, which only now is recognized as an event associated with CM-1.

Hugo André de Lima, Martins; Valdenilson Ribeiro, Ribas; Murilo Duarte Costa, Lima; Daniella Araújo de, Oliveira; Marcelo Tavares, Viana; Ketlin Helenise dos Santos, Ribas; Marcelo Moraes, Valença.

2010-06-01

267

Headache precipitated by Valsalva maneuvers in patients with congenital Chiari I malformation / Cefaléia precipitada por manobras de Valsalva em pacientes com malformação congênita de Chiari tipo I  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in portuguese Neste estudo, objetivou-se caracterizar a cefaléia desencadeada por manobra de Valsalva, em portadores de malformação de Chiari tipo 1 (MC-1). Foram avaliados 19 pacientes com idades variando entre 30 e 75 anos. Dentre estes, 10 apresentaram cefaléia. A região mais acometida foi a occipital (80%) e [...] frontal (60%). A cefaléia foi de duração bem menor nas mulheres em relação aos homens. A freqüência da cefaléia foi relativamente alta, com todos os pacientes apresentando pelo menos um episódio por mês. Os principais fatores desencadeantes foram a tosse, que já é bem descrita pela literatura, e a atividade sexual, que apenas recentemente foi associada a MC-1. Abstract in english The objective of this study was to characterize the headache precipitated by Valsalva maneuvers associated with Chiari type I malformation (CM-1). Nineteen patients were evaluated, with ages ranging from 30 to 75 years. Ten of them presented headache. Pain was more prevalent in the occipital (80%) a [...] nd frontal region (60%). The headaches were of significantly shorter duration in the women compared with the men. The frequency of headache crises was relatively high. All patients with Valsalva-related headache suffered from at least one episode per month. The most prevalent precipitating factors were coughing, which is well described in the literature, and sexual activity, which only now is recognized as an event associated with CM-1.

Hugo André de Lima, Martins; Valdenilson Ribeiro, Ribas; Murilo Duarte Costa, Lima; Daniella Araújo de, Oliveira; Marcelo Tavares, Viana; Ketlin Helenise dos Santos, Ribas; Marcelo Moraes, Valença.

268

Headache precipitated by Valsalva maneuvers in patients with congenital Chiari I malformation Cefaléia precipitada por manobras de Valsalva em pacientes com malformação congênita de Chiari tipo I  

Directory of Open Access Journals (Sweden)

Full Text Available The objective of this study was to characterize the headache precipitated by Valsalva maneuvers associated with Chiari type I malformation (CM-1. Nineteen patients were evaluated, with ages ranging from 30 to 75 years. Ten of them presented headache. Pain was more prevalent in the occipital (80% and frontal region (60%. The headaches were of significantly shorter duration in the women compared with the men. The frequency of headache crises was relatively high. All patients with Valsalva-related headache suffered from at least one episode per month. The most prevalent precipitating factors were coughing, which is well described in the literature, and sexual activity, which only now is recognized as an event associated with CM-1.Neste estudo, objetivou-se caracterizar a cefaléia desencadeada por manobra de Valsalva, em portadores de malformação de Chiari tipo 1 (MC-1. Foram avaliados 19 pacientes com idades variando entre 30 e 75 anos. Dentre estes, 10 apresentaram cefaléia. A região mais acometida foi a occipital (80% e frontal (60%. A cefaléia foi de duração bem menor nas mulheres em relação aos homens. A freqüência da cefaléia foi relativamente alta, com todos os pacientes apresentando pelo menos um episódio por mês. Os principais fatores desencadeantes foram a tosse, que já é bem descrita pela literatura, e a atividade sexual, que apenas recentemente foi associada a MC-1.

Hugo André de Lima Martins

2010-06-01

269

Congenital Rubella Infection  

Directory of Open Access Journals (Sweden)

Full Text Available Rubella, a mild viral infection in non-pregnant state, becomes a major public health problem when acquired in pregnancy. Infection during pregnancy is responsible for miscarriages, stillbirths and congenital malformation. Late sequelae are frequent. Since children with congenital Rubella do not usually progress toward independence in spite of extensive educational programs and support services, the emotional and economic impact on society remains high. From another point of view, in this country we do not perform therapeutic abortions because of malformed fetus, therefore, the preventive measures for Rubella has a very important role on controlling this highly contagious disease and preventing congenital Rubella syndrome. In this article we review the effects of Rubella virus on fetus, vaccination and serologic screening.

L Eslamian

1998-05-01

270

Hemangiomas and vascular malformations: current theory and management.  

Science.gov (United States)

Vascular anomalies are a heterogeneous group of congenital blood vessel disorders more typically referred to as birthmarks. Subcategorized into vascular tumors and malformations, each anomaly is characterized by specific morphology, pathophysiology, clinical behavior, and management approach. Hemangiomas are the most common vascular tumor. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. This paper reviews current theory and practice in the etiology, diagnosis, and treatment of these more common vascular anomalies. PMID:22611412

Richter, Gresham T; Friedman, Adva B

2012-01-01

271

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.

272

Congenital Pseudohorseshoe Lung Associated with Scimitar Syndrome  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

273

Progress in screening and treatment of common congenital eye diseases.  

Science.gov (United States)

Congenital eye illnesses are caused by congenital ocular malformations and are a primary cause of poor visual acuity and blindness in infants. Early diagnosis and treatment of congenital eye illnesses are of great significance for affected infants, their families, and even society as a whole. This study describes the current situation for prenatal and infant screening for congenital eye diseases and briefly summarizes novel progress in the treatment of the five most common eye diseases (congenital dacryocystitis, congenital cataract, retinopathy of prematurity, congenital glaucoma and retinoblastoma). Current programs are now aimed at improvements in the prevention and treatment of congenital eye diseases in China. PMID:24579559

Li, Yan; Lin, Haotian

2013-09-01

274

[Sensitivity of ultrasonographic diagnosis in hand malformations. About 80 cases].  

Science.gov (United States)

During pregnancy, the Haute Autorité de santé (HAS) recommends to realize three ultrasonographic evaluations, notably for the early detection of congenital malformations. Yet, in our experience, ultrasonographic antenatal diagnoses of hand malformations are rare. This is both a retrospective (years 2003-2008) and a prospective study (2009-2012). It quantifies the sensibility of hand malformations ultrasonographic diagnosis. Questionnaires have been sent or given during consultations to parents of children with upper limb malformation. The parents' acceptance of diagnosis and their anxiety have been evaluated. Eighty-eight malformations have been recruited for our series. Only 11 antenatal diagnoses have been made. Thus, sonographic diagnosis sensibility is 12.5% in our series. Thirty-nine percent of the parents have been shocked by the absence of diagnosis at birth. The sensibility of hand malformation ultrasonographic diagnosis is rarely documented in literature. It is generally low. This diagnosis may raise concerns about eugenism and legal issues. However, congenital malformations, even in the absence of a diagnosis, must be taken care of by a clearly determined network. Our results highlight difficulties of prenatal diagnosis of upper limb malformations. A lot of questions arise: what information should be delivered to the parents? Should antenatal ultrasonographic diagnosis be legislated? "Minor" malformations are often well managed by the parents, but "major" malformations ignored often raise legal issues. PMID:23746442

Martin, G; Perrot, P; Duteille, F

2014-06-01

275

Association of congenital neuroblastoma and congenital heart disease. Is there a common embryologic basis  

Energy Technology Data Exchange (ETDEWEB)

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.

Bellah, R.; D' Andrea, A.; Darillis, E.; Fellows, K.E.

1989-01-01

276

Eye malformations in Cameroonian children: a clinical survey  

Directory of Open Access Journals (Sweden)

Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

Eballé AO

2012-10-01

277

Cavernous Malformation  

Directory of Open Access Journals (Sweden)

Full Text Available Brain cavernous malformations are relatively common lesions affecting 0.4% to 0.5% of general population.They occur in two distinct forms: a sporadic form characterized with a single lesion and a familial form characterized by multiple lesions and an autosomal dominant mode of inheritence. These lesions can also leave young people disabled for life and cause epilepsy. Their treatment options are still a controversy. Potential benefits must be weighed against the risks of treatment in individual patients [Archives Medical Review Journal 2011; 20(2.000: 107-117

Ersin Haciyakupoglu

2011-04-01

278

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downwarddisplacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into thespinal canal. This malformation is one of causative factor of death in neonates and infants. Athorough understanding of the direct and indirect sonographic findings is necessary for diagnosis ofChiari II malformation in the developing fetus.In this case report, we present a Chiari malformation II detected at ...

Maryam Nik Nejadi; Fatemeh Zafarani; Firoozeh Ahmadi; Zohreh Rashidi

2008-01-01

279

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)

280

[Central nervous system malformations: neurosurgery correlates].  

Science.gov (United States)

Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them. PMID:23897155

Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S

2013-09-01

 
 
 
 
281

Vascular malformations in pediatrics  

International Nuclear Information System (INIS)

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.)

282

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

283

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.)

284

Isolated Congenital Left Ventricular Diverticulum  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital left ventricular diverticula are rare and usually asymptomatic. Generally other cardiac malformations accompany and they are diagnosed during early childhood. In this article we report a 70-year-old female patient with preoperative chest pain in whom a contractile isolated left ventricular diverticulum is found during left ventriculography. The coronary arteries were normal and she had no other congenital abnormalities. We decided to follow-up the patient medically.

Hülya Çiçekçio?lu

2012-12-01

285

MRI appearances of intraspinal vascular malformations: review of 17 cases in a comparative study with angiography; Malformacoes vasculares do canal vertebral: estudo comparativo com ressonancia magnetica e angiografia em 17 casos  

Energy Technology Data Exchange (ETDEWEB)

Intraspinal vascular malformations are uncommon lesions and their assessment with MRI has been recently reported and advocated as the best screening method available. This Study presents 17 cases of patients with spinal canal vascular malformations. The patients were divided into two groups. Group I included 12 cases of angiographicallyconfirmed spinal canal vascular malformations and group II included 5 cases of angiographically occult lesions (cavernous angiomas). MRI and spinal angiography were performed in all cases and a comparative analysis was also carried out. The anatomical features of these lesions, such as site and nidus, point of fistulization and morphological and signal intensity changes of the spinal cord for each type of vascular lesion were analyzed. The high sensitivity of MRI in detecting cavernous angiomas compared to angiography was confirmed at surgery in 3 out of 5 cases. (author)

Limeira, Ana C. Bacelar; Jaspan, Tim; Wilcock, David J.; Worthington, Brian S. [Nottingham Univ., (United Kingdom). Dept. of Radiology; Minguetti, Guilberto [Parana Univ., Curitiba, PR (Brazil). Dept. de Clinica Medica

2000-08-01

286

NMR imaging of the vertebral column and the spinal canal. 2. rev. and enl. ed.  

International Nuclear Information System (INIS)

The book on the MRT (magnetic resonance tomography) of the vertebral cord and spinal canal covers the following topics: physics fundamentals and application; malformation of the spinal canal; degenerative vertebral column diseases; vertebral column and spinal canal carcinomas; inflammatory diseases of the vertebral column and the spinal canal; applicability of MRT in case of acute spinal cord traumata; vascular diseases of the spinal canal

287

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

288

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

289

Intraosseous arteriovenous malformations mimicking malignant disease  

International Nuclear Information System (INIS)

Primary (congenital) intraosseous arteriovenous malformations are rare, accounting for less than one per cent of all primary intraosseous lesions. They are quite variable in their gross and microscopic presentation, yet all can be traced to anomalous development of the primitive vascular system. They may be totally asymptomatic, cosmetically disfiguring, painful, or on rare occasions, cause high-output cardiac failure. Surgical treatment is often unrewarding with recurrence not uncommon. Intra-arterial embolization has shown promising results. We present three cases of primary intraosseous arteriovenous malformations which on initial work-up mimicked malignant disease. Arteriography proved diagnostic in all three cases. (orig.)

290

Direct puncture angiography in congenital venous malformations  

International Nuclear Information System (INIS)

Angiodysplasia of the extremities is a broad group of vascular lesions of arterial, capillary, and venous origin. They are generally detected initially during late childhood or early adulthood. Although they may cause swelling and pain, they are often asymptomatic and are discovered incidentally on physical examination performed for other reasons. One of the most troublesome diagnostic aspects of these lesions is the fact that while they consist of enlarged venous channels, standard venographic techniques may fail to demonstrate them. Three cases are described in which the diagnosis of venous angioma was made by direct needle puncture and contrast material injection, after arteriographic and/or venographic examination was either negative or nondiagnostic

291

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)

292

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

293

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

294

Detachable balloon occlusion of vascular malformations in young patients.  

Science.gov (United States)

Two patients (11 and 23 months old, respectively) had successful transcatheter occlusion of congenital arterio-venous or veno-venous malformations using detachable silicone balloons. Patient 1 with a cervicofacial hemangioma had selective embolization of the feeding artery with two balloons. Patient 2, with a veno-venous malformation between a systemic vein and pulmonary vein also had selective embolization of the lesion with two balloons. Follow-up examinations confirm a successful outcome in both cases. PMID:8894781

Sreeram, N; Miller, P; John, P

1996-10-11

295

Chiari I malformation: A missed diagnosis  

Directory of Open Access Journals (Sweden)

Full Text Available 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 man with horizontal and vertical nystagmus, he had truncal ataxia and Rhomberg?s sign was positive. Diagnosis was missed by several clinicians during the 2 year period. Repeated brain CT scans were normal. Brain MRI confirmed the diagnosis of Chiari I malformation and cervical syringomyelia. He had decompressive occipital craniectomy durotomy and duroplasty. The patient recovered fully from ataxia headache and diplopia but still has residual nystagmus.

Shehu B

2006-12-01

296

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

Directory of Open Access Journals (Sweden)

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

Natascia Liberato

2010-02-01

297

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

Directory of Open Access Journals (Sweden)

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

Maryam Nik Nejadi

2008-01-01

298

Congenital block vertebrae in lumbar spine  

Directory of Open Access Journals (Sweden)

Full Text Available A 34-year-old female visited our rheumatology clinic with the complaint of non-inflammatory back pain that usually occurred on bending down and radiated to bilateral lower limbs. A diagnosis of compressive neuropathy was suspected and an initially performed digital X-ray of lumbar spine revealed a rare congenital anomaly termed as ‘Congenital block vertebrae’ in the lumbar spine (Fig 1.Block vertebrae, a congenital anomaly, occurs due to improper segmentation of vertebral column during fetal development. Improper segmentation leads to fusion of adjacent vertebrae through their inter-vertebral disc. The most common site of this deformity is cervical spine and the lumbar vertebral involvement is rare. The disco-vertebral articulation is always involved and depending on the degree of involvement, the presenting complaints could be either neurological due to the compression of nerve roots or scoliosis due to the vertebral deformity.

Ankur Nandan Varshney

2013-05-01

299

Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report  

International Nuclear Information System (INIS)

Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

300

Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report  

Energy Technology Data Exchange (ETDEWEB)

Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

2010-06-15

 
 
 
 
301

Cerebral Cavernous Malformation  

Science.gov (United States)

... is Cerebral Cavernous Malformation? A cerebral cavernous malformation (CCM) is a collection of small blood vessels (capillaries) ... that is enlarged and irregular in structure. In CCM, the walls of the capillaries are thinner than ...

302

Congenital anomalies of the mesonephronic duct and fertility  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Agenesia of deferential duct and the others congenital malformations of mesonephronical duct are often encountering condition in andrological practice. This study presents the possibilities of reproductive medicine to restore the male fertility and concentrates on biological and clinical aspects of malformations of mesonephronic duct like factors for excretory male infertility. The investigations including 104 patients (mean age 30.25+1.91 years old) with congenital anomalies of mesonephronic...

Tzvetkova P.

2007-01-01

303

Successful aortic root replacement and shunt closure in a case with rare coexistence of congenital cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale.  

Science.gov (United States)

This is the first report of rare simultaneous complication of three cardiac malformations: bicuspid aortic valve with annuloaortic ectasia, single coronary artery, and patent foramen ovale. We successfully operated to replace the aortic valve and ascending aorta, and to close the patent foramen ovale. PMID:24916464

Egashira, Toru; Shimizu, Hideyuki; Yamada, Yoshitake; Fukuda, Keiichi

2014-10-01

304

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)

305

Prevalence of congenital hydrocephalus in the Hashemite kingdom of Jordan: A hospital-based study  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Background: Congenital hydrocephalus, an important cause of neurologic morbidity and mortality in children, is a medical condition characterized by an abnormal accumulation of cerebrospinal fluid in the brain. It can be caused by abnormal brain development, obstruction of the cerebral aqueduct flow, Chiari malformations, and Dandy-Walker malformation. The prevalence of congenital hydrocephalus is 2.2 to 18 per 10,000 live births. Objectives: To determine the prevalence of congenital hydroceph...

Hana Dawood Ali Alebous; Abeer Ahmad Hasan

2012-01-01

306

Congenital Diaphragmatic Hernia  

Directory of Open Access Journals (Sweden)

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

307

Supravalvular Congenital Mitral Stenosis  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: English Abstract in english Congenital supravalvular mitral stenosis is a rare malformation characterized by the presence of a shelf-like fibrous membrane, with 1 or 2 small orifices, covering and obstructing the mitral valve. The membrane is positioned closely to the mitral valve (and sometimes it is attached to it); therefor [...] e, a preoperative diagnosis is inevitably difficult, even with the use of biplane echocardiography. Two patients with supravalvular mitral stenosis aged 3 years and 3 months are described. In 1 patient, a preoperative diagnosis was made, and both successfully underwent correction.

Fernando, Moraes; Cleuza, Lapa; Cristina, Ventura; Rejane, Santana; Euclides, Tenório; Claudio, Gomes; Carlos R., Moraes.

2002-07-01

308

Inheritance of congenital heart disease  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Congenital heart defects (CHD) are the most common developmental anomalies and are the leading noninfectious cause of mortality in newborn babies. It has been estimated that between four and ten live-born infants per 1000 have a cardiac malformation (0.4 to 1.0%), 40% of which are diagnosed in the first year of life. The European Registration of Congenital Anomalies (EUROCAT) reported a prevalence of 58.9/10,000 live births in the northern part of the Netherlands (0.6%). Hoffman estimated tha...

Roos-hesselink, J. W.; Kerstjens-frederikse, W. S.; Meijboom, F. J.; Pieper, P. G.

2005-01-01

309

Migraine-like headache with autonomic symptoms in midbrain malformation.  

Science.gov (United States)

We report a case of midbrain malformation characterized by right deviation of the medulla oblongata associated with elongation and ectasia of the basilar and left vertebral arteries in a patient with a long history of migraine-like headache with autonomic symptoms. PMID:24898623

Capone, Jay G; Simioni, Valentina; Tola, Maria R

2014-05-01

310

Mesenteric lymphatic malformation associated with acute appendicitis: a case report  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Introduction Mesenteric lymphatic malformations are rare, benign tumors that are most commonly found in children. The presentation of these tumors is variable and may either be innocuous or life threatening. It has been suggested that mesenteric lymphatic malformations are congenital; however, there is evidence that their growth may be stimulated by local trauma. Case presentation We describe the first case of a mesenteric lymphatic malformation associated with acute appendicitis in a 13-year-old Caucasian boy. The patient is well six months after surgical excision of the tumor. Conclusion The reader should be aware that growth and/or development of mesenteric lymphatic malformations may be associated with trauma and other pro-inflammatory processes.

Hunter Catherine

2009-09-01

311

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

312

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

313

NMR imaging of the vertebral column and the spinal canal. 2. rev. and enl. ed.; MRT der Wirbelsaeule und des Spinalkanals  

Energy Technology Data Exchange (ETDEWEB)

The book on the MRT (magnetic resonance tomography) of the vertebral cord and spinal canal covers the following topics: physics fundamentals and application; malformation of the spinal canal; degenerative vertebral column diseases; vertebral column and spinal canal carcinomas; inflammatory diseases of the vertebral column and the spinal canal; applicability of MRT in case of acute spinal cord traumata; vascular diseases of the spinal canal.

Forsting, Michael [Universitaetsklinikum Essen (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie und Neuroradiologie; Uhlenbrock, Detlev [St.-Josefs-Hospital, Dortmund (Germany). MVZ Radiologie, Nuklearmedizin und Strahlentherapie; Wanke, Isabel [Privatklinikengruppe Hirslanden, Zurich (Switzerland); Universitaetsklinikum Essen (Germany). Inst. fuer Diagnostische und Interventionelle Radiologie und Neuroradiologie

2009-07-01

314

Right congenital pleuro-peritoneal hiatus hernia  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

Sankar DK

2009-12-01

315

Hereditary congenital posterior dislocation of radial heads.  

Science.gov (United States)

We report on 4 patients with congenital posterior dislocation of radial heads in 3 generations of a family. Radiographs of the elbow joints of 3 individuals are presented. All affected subjects have mild limitation of extension and a strong restriction of rotation in the elbows. Comparison with previously described patients shows similarities in the X-ray findings. Congenital posterior dislocation of the radial head can be unilateral or bilateral. This malformation is also found in patients with antecubital pterygium or nail-patella syndrome. This family confirms the autosomal dominant inheritance of congenital posterior dislocation of radial heads. PMID:7702079

Reichenbach, H; Hörmann, D; Theile, H

1995-01-01

316

Pituitary gland and axial skeletal malformations in human fetuses with spina bifida.  

Science.gov (United States)

The purpose of the present study was to describe the pituitary gland and axial skeleton, including the sella turcica, in human fetuses with spina bifida. Ten fetuses with gestational ages (GA) 15 1/2-28 weeks were investigated radiographically (Faxitron X-ray apparatus) and immunohistochemically. Four of the fetuses have been described previously. The study showed that nine fetuses had minor or no skeletal abnormalities in the vertebral bodies of the spine, and one fetus had severely malformed vertebral bodies. In all cases the sella turcica and the pituitary gland were malformed. Adenopituitary tissue was in all cases located in both the sella turcica and the pharyngeal submucosa. The most severe sella turcica/pituitary gland malformation was seen in the fetus with the malformed spine. The connection between the prenatally registered sella turcica/pituitary gland malformation and the endocrinological status of children with spina bifida should be emphasized in future studies. PMID:10661842

Kjaer, I; Fischer Hansen, B; Reintoft, I; Keeling, J W

1999-12-01

317

Avaliação dos resultados clínicos e radiográficos de pacientes submetidos à ressecção de hemivértebra nas deformidades congênitas da coluna vertebral / Evaluation of clinical and radiographic results in patients undergoing resection of hemivertebra in congenital deformities of the spine / Evaluación de los resultados clínicos y radiográficos de los pacientes sometidos a resección de hemivértebra en deformidades congénitas de la columna vertebral  

Scientific Electronic Library Online (English)

Full Text Available SciELO Brazil | Language: Portuguese Abstract in portuguese OBJETIVO: A proposta do estudo foi determinar nossos resultados clínicos e radiográficos de pacientes com deformidades congênitas da coluna vertebral submetidos à ressecção de hemivértebra por via posterior isolada e correção com instrumentação posterior e fusão. MÉTODOS: Registros de 31 pacientes s [...] ubmetidos à ressecção de hemivértebra no período de 2003 a 2010 foram revistos para identificar idade e sexo, grau de correção, níveis da artrodese, quadro neurológico, perda sanguínea, tempo cirúrgico e complicações. RESULTADOS: Foram identificados 22 pacientes com escoliose e Cobb pré-operatório médio de 46.66°(20-88°) e 9 pacientes com cifose e média angular de 83.54°(13-137°). Vinte e quatro pacientes eram do sexo feminino e 7 do sexo masculino. Foram 13 pacientes adolescentes e 18 crianças (1-19 anos). A ressecção de hemivértebra foi realizada em 1 nível (64%), 2 níveis (32%) e 3 níveis (4%). As taxas de correção da escoliose e cifose foram 63.8 e 40.1% e as médias angulares pós-operatórias foram 16.88° e 50°, respectivamente. Complicações ocorreram em 7 pacientes: pseudartrose, cifose juncional, neurite óptica, déficit neurológico, infecção de ferida operatória e óbito. A média de perda sanguínea foi de 1132ml (300ml-3500ml) e o tempo cirúrgico foi de 7.15 horas (4-13 horas). CONCLUSÕES: A ressecção de hemivértebra é uma valiosa técnica no tratamento das deformidades congênitas angulares e uma alternativa eficiente que oferece correção satisfatória nos planos coronal e sagital sem a necessidade de uma abordagem anterior. Abstract in spanish OBJETIVO: El objetivo de nuestro estudio fue determinar los resultados clínicos y radiográficos de los pacientes con deformidades congénitas de la columna vertebral que se sometieron a la resección de hemivértebra por el acceso aislado posterior con instrumentación posterior y fusión. MÉTODOS: Regis [...] tros de 31 pacientes sometidos a resección de la hemivértebra el período 2003 a 2010 fueron revisados para identificar edad y sexo, grado de corrección, niveles de la fusión, estado neurológico, pérdida de sangre, tiempo quirúrgico y complicaciones. RESULTADOS: Se identificaron 22 pacientes con escoliosis y Cobb promedio preoperatorio de 46,66° (20°-88°) y 9 pacientes con un ángulo medio de cifosis y 83,54° (13°-137°). Veinticuatro pacientes eran hombres y siete mujeres. Hubo 13 adolescentes y 18 niños (1-19 años). La resección de hemivértebra se realizó en un nivel (64%), dos niveles (32%) y tres niveles (4%). Los porcentajes de corrección de la escoliosis y la cifosis fueron 63,8% y el 40,1% y el ángulo de post-operatorio promedio fue de 16.88° y 50°, respectivamente. Se presentaron complicaciones en 7 pacientes, pseudoartrosis, cifosis de la unión, neuritis óptica, déficit neurológico, infección de la herida y muerte. La pérdida de sangre promedio fue de 1132 ml (300 ml-3500 ml) y el tiempo quirúrgico medio fue de 7,15 horas (4-13 horas). CONCLUSIONES: La resección de hemivértebra es una técnica valiosa en el tratamiento de deformidades angulares congénitas y una alternativa eficaz que proporciona corrección satisfactoria en el plano coronal y sagital sin la necesidad de una vía anterior. Abstract in english OBJECTIVE: The purpose of this study was to determine our clinical and radiographic results of patients with congenital deformities of the spine underwent to single-stage posterior hemivertebra resection and correction with segmental posterior instrumentation and fusion. METHODS: The records of 31 c [...] onsecutive patients who had undergone to hemivertebra resection between 2003 and 2010 were reviewed to identify age and sex, correction rates, fusion levels, neurological status, blood loss, time of surgery and complications. RESULTS: We identified 22 patients with scoliosis and pre-operative Cobb averaged 46.66° (range 20-88°) and 9 patients with kyphosis and averaged 83.54

Luis Antonio Medeiros, Moliterno; Alderico Girão de, Barros; América Maria, Limoeiro; André Luiz Loyelo, Barcellos; Antonio Eulálio Pedrosa de, Araújo Junior; Renato Henriques, Tavares; Luiz Claudio, Schettino; Luis Eduardo Carelli Teixeira da, Silva.

318

Multiple congenital cranial hemangiomas  

International Nuclear Information System (INIS)

Though cranial hemangiomas are second only to vertebral hemangiomas in frequency, such lesions are rarely congenital and multiple. It is probable that the true incidence of congenital calvarial hemangiomas is higher than that reported in the literature, as they are unlikely to undergo imaging, most being asymptomatic and without a significant soft tissue component. We present a case of multiple congenital calvarial and skull base cavernous-type hemangiomas, diagnosed in a 4-day-old female, involving the right zygoma, maxilla, frontal and petrous temporal bones and contralateral squamous temporal bone. Surgical biopsy confirmed the radiological diagnosis as well as the concomitant multiple subcutaneous capillary-type hemangiomas which were identified clinically. No specific clinical syndrome or chromosomal abnormality was identified and the underlying cerebral parenchyma was normal with no intra-axial involvement. With conservative treatment, two lesions completely resolved and a further two lesions subsequently decreased in both size and degree of enhancement. To the best of our knowledge, this is the first case of multiple congenital hemangiomas involving the calvarium and skull base. Despite this, the radiological features, combined with the clinical findings of multiple capillary hemangiomas, were characteristic enough to permit an accurate preoperative diagnosis. Osseous hemangiomas should feature prominently in any differential diagnosis of multiple hypervascular lesions, as they are common, more so when limited to an anatomical region, irrespective of site or age. (orig.)

319

Cardiac Arrhythmias In Congenital Heart Diseases  

Directory of Open Access Journals (Sweden)

Full Text Available Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy.

Paul Khairy

2009-11-01

320

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

2010-01-01

 
 
 
 
321

[Rhythm disorders and cardiac crypto-malformations].  

Science.gov (United States)

Faced with a cardiac arrhythmia occuring in an apparently healthy heart, it is necessary to perform an anatomical investigation to detect any unsuspected anomalies. Congenital cardiopathy must certainly be excluded, as this is often responsible for rhythm disorders and/or cardiac conduction defects. Similarly, any acquired conditions, cardiomyopathy, or cardiac tumour must be sought. However, the possibility should always be considered of a minimal congenital malformation, which could be repsonsible for: any type of cardiac arrhythmia: rhythm disorder or conduction defect at the atrial, junctional or ventricular level, with a benign or serious prognosis. Unexpected therapeutic difficulties during radiofrequency ablation procedures or at implantation of pacemakers or defibrillators. Together with rhythm studies, the investigation of choice is high quality imaging, either the classic left or right angiography or the more modern cardiac CT or intracardiac mapping. PMID:16433240

Davy, J M; Raczka, F; Cung, T T; Combes, N; Bortone, A; Gaty, D

2005-12-01

322

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 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 syndrome. It is a partial anomalous pulmonary venous return with pulmonary hypoplasia. Scimitar vein is an anomalous drainage vessel between the right pulmonary lobe vessels and the inferior vena cava. The appearance of the vessel resembles Turkish scimitar; therefore, the syndrome is called scimitar syndrome. We hereby report a 61-year-old woman with adult form congenital scimitar syndrome and will describe the imaging findings of pseudohorseshoe lung appearance. PMID:23329972

Tosun, Alptekin; Leblebisatan, Serife

2012-06-01

323

Building the Vertebrate Spine  

Science.gov (United States)

The vertebrate body can be subdivided along the antero-posterior (AP) axis into repeated structures called segments. This periodic pattern is established during embryogenesis by the somitogenesis process. Somites are generated in a rhythmic fashion from the paraxial mesoderm and subsequently differentiate to give rise to the vertebrae and skeletal muscles of the body. Somite formation involves an oscillator-the segmentation clock-whose periodic signal is converted into the periodic array of somite boundaries. This clock drives the dynamic expression of cyclic genes in the presomitic mesoderm and requires Notch and Wnt signaling. Microarray studies of the mouse presomitic mesoderm transcriptome reveal that the segmentation clock drives the periodic expression of a large network of cyclic genes involved in cell signaling. Mutually exclusive activation of the Notch/FGF and Wnt pathways during each cycle suggests that coordinated regulation of these three pathways underlies the clock oscillator. In humans, mutations in the genes associated to the function of this oscillator such as Dll3 or Lunatic Fringe result in abnormal segmentation of the vertebral column such as those seen in congenital scoliosis. Whereas the segmentation clock is thought to set the pace of vertebrate segmentation, the translation of this pulsation into the reiterated arrangement of segment boundaries along the AP axis involves dynamic gradients of FGF and Wnt signaling. The FGF signaling gradient is established based on an unusual mechanism involving mRNA decay which provides an efficient means to couple the spatio-temporal activation of segmentation to the posterior elongation of the embryo. Another striking aspect of somite production is the strict bilateral symmetry of the process. Retinoic acid was shown to control aspects of this coordination by buffering destabilizing effects from the embryonic left-right machinery. Defects in this embryonic program controlling vertebral symmetry might lead to scoliosis in humans. Finally, the subsequent regional differentiation of the precursors of the vertebrae is controlled by Hox genes, whose collinear expression controls both gastrulation of somite precursors and their subsequent patterning into region-specific types of structures. Therefore somite development provides an outstanding paradigm to study patterning and differentiation in vertebrate embryos.

Pourquié, Olivier

2008-03-01

324

Exposure to nitrofurantoin during the first trimester of pregnancy and the risk for major malformations.  

Science.gov (United States)

Antibacterial drugs are among the most common medications used by pregnant women. While medical literature generally defines nitrofurantoin as an antibiotic that is safe for use during the first trimester of pregnancy, new concerns about a possible association between congenital malformations following exposure to nitrofurantoin during the first trimester of pregnancy have recently surfaced. To address these concerns, we conducted a large population-based retrospective cohort study to assess this possible association (including cases of medical terminations of pregnancy or stillbirth) and congenital malformations. A computerized database for medications dispensed to pregnant women in southern Israel was linked with records from the district hospital. Associations between exposure to nitrofurantoin during the first trimester and major malformations were assessed. Our research included a total of 105,492 pregnancies, 1,112 of which involved pregnancy terminations for medical reasons. A total of 1,329 infants and abortuses had been exposed to nitrofurantoin during the first trimester of pregnancy. Exposure to nitrofurantoin was not associated with increased risk of major malformations in general (adjusted OR = 0.85, 95% CI 0.67-1.08) or with specific malformations. First trimester exposure to nitrofurantoin was not associated with increased risk for total major congenital malformations or with specific malformations. PMID:23873250

Goldberg, Ori; Koren, Gideon; Landau, Daniella; Lunenfeld, Eitan; Matok, Ilan; Levy, Amalia

2013-09-01

325

A patient with oculus-auricule-vertebral spectrum and occipital meningocele  

Directory of Open Access Journals (Sweden)

Full Text Available We report a newborn with multiple features of the oculus-auricule-vertebral spectrum (OAVS. The different malformations arepointed out that conform a wide spectrum of anomalies at themoment, according to the revised literature, as well as the clinicalcharacteristics, treatment and their evolution. The malformations ofthe central nervous system type meningocele and malformation ofDandy Walker is a novel discovery that can be explained by this typeof morphogenetic alterations.

Harry Mauricio Pachajoa Londoño

2006-08-01

326

Imaging features of ductal plate malformations in adults  

Energy Technology Data Exchange (ETDEWEB)

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

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

2011-11-15

327

Imaging features of ductal plate malformations in adults  

International Nuclear Information System (INIS)

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

328

Vertebral chondroblastoma  

International Nuclear Information System (INIS)

To determine the age distribution, gender, incidence, and imaging findings of vertebral chondroblastoma, and to compare our series with findings from case reports in the world literature.Design and patients Case records and imaging findings of nine histologically documented vertebral chondroblastomas were retrospectively reviewed for patient age, gender, vertebral column location and level, morphology, matrix, edema, soft tissue mass, spinal canal invasion, and metastases. Our findings were compared with a total of nine patients identified from previous publications in the world literature. The histologic findings in our cases was re-reviewed for diagnosis and specifically for features of calcification and secondary aneurysmal bone cyst (ABC). Clinical follow-up was requested from referring institutions. Nine of 856 chondroblastomas arose in vertebrae (incidence 1.4%; thoracic 5, lumbar 1, cervical 2, sacral 1). There were six males and three females ranging in age from 5 to 41 years (mean 28 years). Satisfactory imaging from seven patients revealed the tumor to arise from the posterior elements in four and the body in three. All tumors were expansive, six of seven were aggressive, and the spinal canal was significantly narrowed by bone or soft tissue mass in six. In one patient canal invasion was minimal. Calcification was pronounced in two and subtle in four. The sole nonaggressive-appearing tumor was heavily mineralized. Bony edema and secondary ABC were not seen ony edema and secondary ABC were not seen on MR imaging. None of the cases had microscopic features of significant secondary ABC. Calcification, and specifically ''chicken wire'' calcification, was identified in two patients. Pulmonary metastases occurred in none. Vertebral chondroblastoma is a rare neoplasm that presents later in life than its appendicular counterpart. On imaging it is aggressive in appearance with bone destruction, soft tissue mass, and spinal canal invasion. The lesions contain variable amounts of mineral. Secondary aneurysmal cyst bone formation was not a feature in our study group. (orig.)

329

Vertebral chondroblastoma  

Energy Technology Data Exchange (ETDEWEB)

To determine the age distribution, gender, incidence, and imaging findings of vertebral chondroblastoma, and to compare our series with findings from case reports in the world literature.Design and patients Case records and imaging findings of nine histologically documented vertebral chondroblastomas were retrospectively reviewed for patient age, gender, vertebral column location and level, morphology, matrix, edema, soft tissue mass, spinal canal invasion, and metastases. Our findings were compared with a total of nine patients identified from previous publications in the world literature. The histologic findings in our cases was re-reviewed for diagnosis and specifically for features of calcification and secondary aneurysmal bone cyst (ABC). Clinical follow-up was requested from referring institutions. Nine of 856 chondroblastomas arose in vertebrae (incidence 1.4%; thoracic 5, lumbar 1, cervical 2, sacral 1). There were six males and three females ranging in age from 5 to 41 years (mean 28 years). Satisfactory imaging from seven patients revealed the tumor to arise from the posterior elements in four and the body in three. All tumors were expansive, six of seven were aggressive, and the spinal canal was significantly narrowed by bone or soft tissue mass in six. In one patient canal invasion was minimal. Calcification was pronounced in two and subtle in four. The sole nonaggressive-appearing tumor was heavily mineralized. Bony edema and secondary ABC were not seen on MR imaging. None of the cases had microscopic features of significant secondary ABC. Calcification, and specifically ''chicken wire'' calcification, was identified in two patients. Pulmonary metastases occurred in none. Vertebral chondroblastoma is a rare neoplasm that presents later in life than its appendicular counterpart. On imaging it is aggressive in appearance with bone destruction, soft tissue mass, and spinal canal invasion. The lesions contain variable amounts of mineral. Secondary aneurysmal cyst bone formation was not a feature in our study group. (orig.)

Ilaslan, Hakan; Sundaram, Murali [Department of Radiology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905 (United States); Unni, Krishnan K. [Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street, SW, Rochester, MN 55905 (United States)

2003-02-01

330

Large cerebral arteriovenous malformation  

International Nuclear Information System (INIS)

A large celebral arteriovenous malformation, which showed first no typical symptoms of an angioma as seizures or bleedings, but signs of a transitoric ischemic attack, is described. In computertomography there was not the angioma corresponding figure, but in angiography. (orig.)

331

An unusual constellation of congenital malformations in a single patient including partial anomalous pulmonary venous return, persistent left superior vena cava, aberrant pulmonary fissure, anomalous aortic arch, tracheal diverticulum and annular pancreas.  

Science.gov (United States)

We report a case of a male patient with a constellation of rare congenital anomalies consisting of: partial anomalous pulmonary venous return (PAPVR), persistent left superior vena cava, 'bovine arch' aortic branching, tracheal diverticulum, aberrant lung fissure anatomy and an annular pancreas. He had presented with a history of worsening dyspnoea. To the best of our knowledge, this is the first reported case of a single patient with such a vast constellation of anomalies. The radiological evaluations, epidemiology, embryology and clinical features of the anomalies are discussed. It is important for radiologists to be aware of each of these anomalies as distinct entities; detection of a single anomaly should alert to the possibility that further anatomic aberrancies may be present. PMID:25362184

Lapa, T; Vedelago, J; Kim, H; Patrick, E

2014-01-01

332

Split Cord Malformation: A Report of Two Cases  

Directory of Open Access Journals (Sweden)

Full Text Available Split cord malformation (Diastometamyelia,diplomyelia is a rare developmental embryological fusion defect and is characterized by double spinal cord formation. It is an important etiological factor in the pathogenesis of scoliosis. Magnetic resonance imaging and computed tomography are very useful radiological examinations in the diagnosis. In addition, X Ray is helpful in detecting bone septum and vertebral anomalies. Here, we present two cases, who were diagnosed at 41 and 52 years of age as having the rarely seen split cord malformation. Turk J Phys Med Rehab 2010;56:37-9.

Fatih Temiztürk

2010-03-01

333

[Epidemiological aspects of congenital stridor].  

Science.gov (United States)

The objective of the present work was to study epidemiology of congenital stridor as a leading symptom of laryngeal malformation. The continuous sampling method was employed to perform the retrospective analysis of the growth charts of the patients attending three children's polyclinics in Moscow (9.625 patients born between 2005 and 2009). In addition, the medical histories of 4.623 newborn and breast-fed babies under the age of 1 year admitted to the Department of Newborn and Neonatal Pathology, Saint Vladimir City Children's Clinical Hospital, and 347 patients of the Department of Reconstructive Laryngeal Surgery were analysed. The children with the history of tracheal intubation in the preceding period were excluded from the study. The frequency of congenital stridor annually diagnosed in the aforementioned polyclinics varied from 0.17 to 5.8% compared with 1.5% in the general population. It was 2.21 to 3.14% (mean 2.47%) among the children treated at the Clinical Hospital. In the children under the age of 1 year, congenital malformations accounted for 90.8% of all laryngeal diseases. The principal cause of stridor was shown to be laryngomalacia. This pathology was diagnosed in 91.9% of the cases included in this study. In 11.2% of the patients, this condition occurred in combination with other congenital pathologies. It is concluded that the diagnosis of congenital stridor is an indication for laryngeal endoscopy regardless of the children's age starting from the first day of life. Meeting this recommendation allows the cause of stridor to be established and the treatment strategy to be developed on an individual basis. PMID:22951680

Soldatski?, Iu L; Za?tseva, O V; Striga, E V; Onufrieva, E K; Tilikina, L G

2012-01-01

334

Congenital sensorineural hearing loss  

Energy Technology Data Exchange (ETDEWEB)

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

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

1984-02-01

335

The grown-up congenital cardiac patient.  

Science.gov (United States)

Long-term survival of patients with congenital heart disease has dramatically improved during the last 50 years and the number of adults with congenital heart disease is therefore increasing in all developed countries. Grown-up patients with congenital heart disease (GUCH) often present difficult and challenging problems. Patients with both native unoperated and operated malformations contribute to the GUCH population. Survivors without surgical treatment mainly have simple malformations; but a few have complex diseases, and some have survived with secondary pulmonary hypertension. Among operated malformations there are patients with a 'complete' repair (anatomical and physiological), others with a definitive palliation (physiological repair) and some with a simple palliation. The clinical spectrum is obviously diversified, depending on the underlying anomaly, surgical outcome, presence of residua, sequelae and/or complications, length of follow-up, comorbidities. Arrhythmias, bacterial endocarditis, cyanosis, polycythemia, heart failure, anomalies of pulmonary circulation, deterioration or malfunction of devices, need of cardiac and non-cardiac surgery, intercurrent non-cardiac diseases, and a need for cardiac and non-cardiac diagnostic procedures are common problems of adults with congenital heart disease. Physiological events such as pregnancy and childbearing deserve a careful multidisciplinary approach. While most simple native and well corrected GUCH do not require very specialized treatments throughout their life, the abnormalities and complexities of postoperative anatomy are often beyond the expertise of the adult cardiologist, requiring multidisciplinary competence in specialized tertiary centers. The problem is still unresolved and involves cultural, medical, technological and economically relevant issues. PMID:17255822

Borghi, Adele; Ciuffreda, Matteo; Quattrociocchi, Maria; Preda, Laura

2007-01-01

336

Management of intracranial arteriovenous malformations  

International Nuclear Information System (INIS)

Intracranial arteriovenous malformations (AVMs) are congenital lesions that can cause serious neurological deficits or even death. They can manifest as intracranial hemorrhage, epileptic seizure, or other symptoms such as headache or tinnitus. They are detected by computed tomography or magnetic resonance imaging. Recently there have been significant developments in the management of AVMs. In this paper, the authors represent an overview of the epidemiology of AVMs and the existing treatment strategies. AVMs are ideally excised by standard microsurgical techniques. The grading scale which was proposed by Spetzler and Martin is widely used to estimate the risk of direct surgery. Stereotactic radiosurgery such as that using a gamma knife is very useful for small lesions located in eloquent areas. Technological advances in endovascular surgery have provided new alternatives in the treatment of AVMs. Currently indications for embolization can be divided into presurgical embolization in large AVMs to occlude deep arterial feeding vessels and embolization before stereotactic radiosurgery to reduce the size of the nidus. Palliative embolization can be also applied for patients with large, inoperable AVMs who are suffering from progressive neurological deficits secondary to venous hypertension and/or arterial steal phenomenon. (author)

337

Multiple cerebral arteriovenous malformations (AVMs)  

International Nuclear Information System (INIS)

From our series of 203 patients with cerebral vascular lesions, 18 (9%) could be included in the multiple arteriovenous malformation category. There were five patients with Rendu-Osler-Weber, one with Wyburn-Mason syndromes and two with concurrent arteriovenous malformations. The remaining ten patients (4%) had multiple brain arteriovenous malformations. Careful angiography with magnification is necessary to try to diagnose multiple brain AVMs, since these sometimes become apparent only after embolization of a larger dominant AVM. The incidence of multiple brain arteriovenous malformations is likely to have been underestimated due to the failure to recognize micro-arteriovenous malformations associated with larger arteriovenous malformations. (orig.)

338

Rectal and splenic vascular malformation in klippel trenaunay weber syndrome: A case report  

International Nuclear Information System (INIS)

Klippel Trenaunay Weber syndrome (KTWS) is a rare congenital disorder, characterized by a cutaneous vascular nevus of the involved extremity, vascular malformations, bone and soft tissue hypertrophy of the extremity. We present the case of an 18 year old female patient with KTWS, showing a marked rectosigmoid wall thickening and phlebolith, and also variable sized cystic masses in the spleen, as a result of vascular malformations

339

Unusual Systemic Artery to Pulmonary Artery Malformation Without Evidence of Systemic Disease, Trauma or Surgery  

International Nuclear Information System (INIS)

Connections between the systemic and pulmonary arterial systems are rare conditions that can be due to either congenital or acquired diseases such as anomalous systemic arterial supply to normal lung, pulmonary sequestration, and systemic supply to pulmonary arteriovenous malformations. Herein, a unique case of systemic artery to pulmonary arterial malformation and its endovascular treatment in a patient with no history of the usual etiologies is reported

340

Rectal and splenic vascular malformation in klippel trenaunay weber syndrome: A case report  

Energy Technology Data Exchange (ETDEWEB)

Klippel Trenaunay Weber syndrome (KTWS) is a rare congenital disorder, characterized by a cutaneous vascular nevus of the involved extremity, vascular malformations, bone and soft tissue hypertrophy of the extremity. We present the case of an 18 year old female patient with KTWS, showing a marked rectosigmoid wall thickening and phlebolith, and also variable sized cystic masses in the spleen, as a result of vascular malformations.

Kim, Ha Youn; Chang, Yun Woo; Lee, Dong Hwan [Soonchunhyang Univ. Hospital, Seoul (Korea, Republic of)

2012-10-15