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Congenital malformations in Assam  

Directory of Open Access Journals (Sweden)

Full Text Available Aim : To determine the annual incidence of congenital malformations in Assam and to analyze the data. Materials and Methods : Data regarding babies born with congenital malformations in the state of Assam during the year 2006 were obtained through questionnaires and analyzed. The results were compared with similar Indian data. Results : The overall incidence of congenital malformation was 0.08%. This was considerably lower than similar published data from other states. Five hundred and eleven babies were born with congenital malformations, with 421 (82.4% having major malformations. Males were affected more than females, 334 (65.4% vs. 177 (34.6%. The gastrointestinal and genitourinary systems accounted for 26% and 25.8%, respectively. Malformation involving the central nervous system was more common in certain ethnic groups. Conclusions : The incidence of malformations in certain systems was at variance with the data from other states.

Dutta Hemonta

2010-01-01

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Congenital spinal malformations  

International Nuclear Information System (INIS)

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

2001-12-01

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Prevalence of Congenital Malformations  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 m...

Akhavan Karbasi Sedighah; Golestan Motaharah; Fallah Raziah; Mirnaseri Fahimehsadat; Barkhordari Kazem; Sadr Bafghee Mahdokht

2009-01-01

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Congenital uterine malformations.  

Science.gov (United States)

With the advent of newer imaging techniques, the radiologist is now able to make very precise and accurate diagnoses of congenital uterine malformations and their complications. Because these anomalies are associated with reproductive dysfunction, they are often discovered during an infertility evaluation. By imaging parallel to the long axis of the uterus, the external contour can be evaluated, obviating laparoscopy for differentiating septate from bicornuate uteri. Obstructed uterovaginal anomalies (e.g., hematometros, hematometrocolpos), an important complication of abnormal müllerian duct development, can occur at any time from the newborn period to adulthood. Determining the site of obstruction is imperative for planning the proper surgical approach. To understand these malformations better, we review the relevant embryology. The most widely accepted classification scheme is discussed in detail, with an emphasis on diagnosis, prognosis, and therapeutic options. PMID:8536487

Woodward, P J; Sohaey, R; Wagner, B J

1995-01-01

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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

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Congenital malformations in multiple births  

Directory of Open Access Journals (Sweden)

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

Sharada B. Menasinkai

2013-06-01

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Congenital pseudoarthrosis associated with venous malformation  

International Nuclear Information System (INIS)

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

2007-06-01

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Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation  

International Nuclear Information System (INIS)

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.)

2006-08-01

9

Common congenital malformations of the brain  

International Nuclear Information System (INIS)

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

1987-01-01

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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

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FULL SCIENTIFIC REPORTS - Complex vertebral malformation in Holstein calves.  

DEFF Research Database (Denmark)

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

2001-01-01

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Congenital malformation of inner ear, single cavity  

International Nuclear Information System (INIS)

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

2010-01-01

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Congenital malformations in newborns of alcoholic mothers  

Directory of Open Access Journals (Sweden)

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

Maria dos Anjos Mesquita

2010-12-01

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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

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Prenatal Diagnosis of Congenital Cystic Adenomatoid Malformation.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 r...

2004-01-01

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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

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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

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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...

2012-01-01

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Congenital malformations of the external and middle ear  

International Nuclear Information System (INIS)

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

2009-02-01

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Infertility, infertility treatment, and congenital malformations: Danishnational birth cohort  

DEFF Research Database (Denmark)

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

Zhu, Jin Liang; Basso, Olga

2006-01-01

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

Scientific Electronic Library Online (English)

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

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

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

Science.gov (United States)

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

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

2013-01-01

23

Congenital ossicular malformation. A study of 27 ears  

International Nuclear Information System (INIS)

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

2010-10-01

24

Echography of congenital malformations of the central nervous system  

International Nuclear Information System (INIS)

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

2010-01-01

25

Diffusion imaging and tractography of congenital brain malformations  

International Nuclear Information System (INIS)

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

2010-01-01

26

Computed tomography of congenital brain malformations  

Energy Technology Data Exchange (ETDEWEB)

This book is illustrated showing each condition. This book is designed to correlate the pathology of CNS malformations with their CT scan appearance, mainly on the axial images. The author has drawn upon his personal experience and the information gleaned from the literature dealing with the description of the CT scan findings of these malformations. The emphasis is on simplicity of description. Since a large degree of morphological variation exists in each entity, numerous illustrations (wherever applicable) are shown to depict those variations. When appropriate, deficiency of the CT scan in the evaluation of these CNS malformations also is indicated. A description of CNS embryology is included as well.

Sarwar, M.

1984-01-01

27

Gross congenital malformation at birth in a government hospital.  

Science.gov (United States)

A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF) occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks) with three leading malformation as anencephaly (44.68%), talipes equinovarus (17.02%) and meningomyelocele (10.63%). Higher risk of malformed births were noticed amongst un-booked (2.07%) in-comparison to booked (1.01%) mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]); gravida status of at least 3 (2.69%) followed by 1 (1.43%) and 2 (1.0%) respectively; pre-term (5.13%) vs. term (0.66%); cesarean section (4.36%) versus vaginal delivery (0.62%). Mortality was significantly higher among congenitally malformed (17.35%) than normal (0.34%) newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid) that needs appropriate attention and management. PMID:24748359

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

2014-01-01

28

Congenital malformations and other reproductive hazards from environmental chemicals  

Energy Technology Data Exchange (ETDEWEB)

Chemical contamination incidents that have led to abnormalities in human reproduction are reviewed. Possible effects of hazardous chemicals on reproduction in humans and animals are listed. Hazardous chemicals can affect reproductive capacity, cause congenital malformations, or lead to childhood cancer. More research is needed to determine possible damage related to worker exposure to hazardous substances. (103 references, 2 tables)

Sullivan, F.M.; Barlow, S.M.

1979-07-18

29

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

International Nuclear Information System (INIS)

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

2006-01-01

30

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

31

Congenital renal arteriovenous malformations in infancy  

International Nuclear Information System (INIS)

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

1991-01-01

32

Prenatal diagnosis of congenital lung malformations.  

Science.gov (United States)

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. PMID:22262133

Alamo, Leonor; Gudinchet, Francois; Reinberg, Olivier; Vial, Yvan; Francini, Katyuska; Osterheld, Maria-Chiara; Meuli, Reto

2012-03-01

33

Prenatal diagnosis of congenital lung malformations  

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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

34

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.)

2012-03-01

35

The congenital malformation syndromes: Osteochondrodysplasias, dysostoses, and chromosomal disorders  

International Nuclear Information System (INIS)

In this chapter, the congenital malformation syndromes are described. The term malformation syndrome refers to a constellation of abnormalities that frequently occur together. The syndromes are often referred to by an eponym, named for those who originally described the abnormality, such as Hurler's syndrome. Alternatively, they are designated by a series of Latin or Greek phrases that include the principle sites of abnormalities, such as the acrocephalosyndactyly syndrome (Apert's syndrome), consisting of craniofacial, hand, and foot abnormalities. Many are known by both, as in the previous case

1987-01-01

36

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

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

Boes Aaron D

2011-12-01

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Antenatal management of pulmonary hyperplasia (congenital cystic adenomatoid malformation)  

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

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

2010-01-01

38

Human gene copy number spectra analysis in congenital heart malformations  

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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

39

Diffusion imaging and tractography of congenital brain malformations  

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Diffusion imaging is an MRI modality that measures the microscopic molecular motion of water in order to investigate white matter microstructure. The modality has been used extensively in recent years to investigate the neuroanatomical basis of congenital brain malformations. We review the basic principles of diffusion imaging and of specific techniques, including diffusion tensor imaging (DTI) and high angular resolution diffusion imaging (HARDI). We show how DTI and HARDI, and their applica...

2010-01-01

40

Congenital diaphragmatic hernia: influence of associated malformations on survival.  

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The medical records of 116 consecutive cases of congenital diaphragmatic hernia (CHD) among 368,772 live births at the three maternity hospitals in Dublin were examined and the incidence of associated malformations and their impact on survival analysed. The patients were divided into two groups: group I included 64 (55%) patients who died during resuscitation and stabilisation before surgery at a mean age of 11.2 hours and group II included 52 (45%) patients who were operated upon. All patien...

Sweed, Y.; Puri, P.

1993-01-01

 
 
 
 
41

Antenatal diagnosis of congenital renal malformations using ultrasound.  

Science.gov (United States)

Our objectives were to determine the accuracy of antenatal sonography for the detection of congenital renal malformations and to characterize the type of malformations, seen in a 3-year prospective study at a university-affiliated maternity hospital. Participants were 31,217 pregnant women, during the study period, and subjects were 65 fetuses in whom renal malformations were detected on antenatal ultrasound. Pelvic ultrasound scans were performed at least once between 20 and 37 weeks' gestation on all pregnant women attending the antenatal clinic of the hospital for the detection of renal malformations. Fetal urinary sampling, diversion procedures, or termination of pregnancy were carried out as required in those detected to have renal anomalies. Postnatal diagnosis was confirmed by sonography or autopsy. Diagnostic procedures and renal surgery were performed postnatally if indicated. Sixty-five fetuses (0.2 per cent) were diagnosed to have congenital renal malformation antenatally at a mean gestational age of 28.4 weeks. A dilated urinary system was seen in 39, cystic renal disease in 15, agenesis/hypoplasia in six, combined lesions in four, and a horseshoe kidney in one. Oligohydramnios was noted in 20 (31 per cent) pregnancies. Multiple congenital malformations associated with renal anomalies were detected in 12 pregnancies. Termination was carried out at 20 weeks in two pregnancies for lethal malformations; fetal urinary sampling was done in two fetuses with obstructed uropathy, and a vesicoamniotic shunt inserted in one. Postnatal ultrasound confirmed a dilated urinary system in 32, cystic renal dysplasia in 15, renal aplasia/hypoplasia in five, combined lesions in six, and a horseshoe and an ectopic kidney in one each. Five infants were found to be normal. There were seven stillbirths and seven neonatal deaths. Radionuclide scans showed obstruction in nine, decreased renal function in six, and absent renal functions in 10 infants. Micturating cystourethrography demonstrated reflux in 11 and a non-refluxing non-obstructive dilated renal system in five babies. Renal surgery was performed in nine infants. The conclusions drawn from this study were that antenatal detection of renal disease is fairly accurate, even in an extremely busy hospital and certain types of malformations reported in other studies were not observed, despite a large cohort. PMID:9718912

Sanghvi, K P; Merchant, R H; Gondhalekar, A; Lulla, C P; Mehta, A A; Mehta, K P

1998-08-01

42

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

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

Daniela Iacob

2006-06-01

43

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

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

Scher, A. T.

1990-01-01

44

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)

2006-09-01

45

Midline congenital malformations of the brain and skull.  

Science.gov (United States)

Considering the complexity of congenital midline abnormalities of the brain, it is mandatory to review and summarize the subject, based on embryologic development, developmental biology, clinical approach, neuroimaging, and molecular genetics. There are still several areas of poor knowledge, confusion, and controversy. Pathogenesis in some cases is not clearly understood, and definitions and limits among different diseases are not apparent. This article reviews several malformations of the skull and brain with the aims of making image interpretation easier, enabling an accurate diagnosis, establishing the prognosis, and aiding in genetic counseling. PMID:21807309

Nuñez, Sara; Mantilla, Maria T; Bermúdez, Sonia

2011-08-01

46

Congenital malformations in perinatal autopsy: a two-year prospective study.  

Science.gov (United States)

Perinatal autopsy detects the cause of death and also finds the various types of congenital malformation involving one or more than one system. Congenital malformations are one of the leading causes of perinatal deaths and infant mortality. In the present study various visceral malformations were detected in perinatal autopsies and categorised them systemwise. The prospective study was conducted during the period of June 2007 to May 2009 consisting of 32 cases. Out of 32 perinatal deaths studied, 30 were stillborn and in 2 there were early neonatal deaths. In each case, an attempt was made to find out the congenital malformation in perinatal deaths and clinicopathological correlation was attempted after a detailed postmortem and histopathological study. Congenital malformations were seen in 10 cases which accounted for 31.2% of perinatal deaths. A total of 64 congenital malformations were observed in 10 cases. Malformations of the alimentary system (20.31%) were most common followed by genito-urinary system (18.75%), musculoskeletal system (17.18%) and central nervous system (9.37%). There were other 22 congenital anomalies. Two cases of harlequin icthyosis and one case each of Meckel Gruber syndrome, sirenomelia and twin reverse arterial perfusion syndrome were also seen. In many of the perinatal deaths, internal malformations were not suspected clinically. Thus, autopsy is an invaluable tool for detecting visceral malformations, adding to the clinical diagnosis and counselling the parents for subsequent pregnancy. PMID:24003564

Kalyani, R; Bindra, Mandeep S; Mahansetty, Hemalatha

2013-02-01

47

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

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

Julio Nazer Herrera

2005-05-01

48

Congenital malformation among newborns at Dr. Pirngadi Hospital Medan during 1981-1984.  

Science.gov (United States)

A study on the incidence of congenital malformation had been assessed among 15,185 newborns delivered in the Neonatal Unit, Dr. Pirngadi Hospital Medan during 1981-1984. Still-births were not included in this study. Out of these 15,185 newborns there were 77 cases (0.51%) of congenital malformation. The four leading malformations were pes-equinovarus 7 cases (9.1%), labiognathopalatoschizis, hydrocephalus and anencephalus 6 cases each (7.7%). The number of congenital malformations was higher in the age group of mothers older than 35 years (0.78%) and in the group of babies born in the birth order as third and further (53.85%) and as first born babies (33.33%). From 77 cases with congenital malformation only 2 (2.56%) were operated soon after birth, while 49 cases (64.1%) went home without surgical intervention, and 28 cases (35.9%) died during hospitalization. PMID:2797839

Lubis, B; Tjipta, G D; Panjaitan, A J; Raid, N; Siregar, H

1989-01-01

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Congenital Cystic Adenomatoid Malformation of the Entire Lung  

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

Mahmut Tokur

2013-03-01

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

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

N.?. Galyagina

2014-06-01

51

Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung  

International Nuclear Information System (INIS)

Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

2004-03-01

52

[Congenital cystic adenomatoid malformation of the lung. Prenatal diagnosis in a case].  

Science.gov (United States)

We report a case of congenital cystic adenomatoid lung malformation, type I in the Stocker classification, diagnosed at ultrasonography at 27 weeks gestation. The lesion stabilized as was the hydramnios. Vaginal delivery was uneventful. Early surgery with lobectomy led to a favorable outcome at 8 months follow-up. Congenital adenomatoid lung malformation is a rare finding. Prenatal ultrasound diagnosis has enabled early treatment and improved prognosis. PMID:11924232

Belkheiri, M; Elidrissi, F; Bouslamti, T; Eddaniaoui, M; Banani, A; Khabouze, S; Aghoutane, M; Zerhouni, H; Ettayebi, F; Kharbach, A; Chaoui, A

2001-11-01

53

Development and evaluation of a computer-based educational program for adults with congenitally malformed hearts  

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BACKGROUND: There is a lack of educational material for adults with congenitally malformed hearts. Computer-based education has shown to have significant effects on knowledge and management of chronic diseases. AIM: The aim of this study was to develop and evaluate a computer-based educational program for adults with congenitally malformed hearts. METHODS: The program was developed by a multidisciplinary team. Data were collected by questionnaires, observations, and structured interviews. RES...

Ro?nning, Hele?n; Nielsen, Niels Erik; Stro?mberg, Anna; Thilen, Ulf; Swahn, Eva

2013-01-01

54

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

Scientific Electronic Library Online (English)

Full Text Available SciELO Chile | Language: Spanish Abstract in english 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-gestat [...] ional 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

Nazer Herrera, Julio; García Huidobro, Moira; Cifuentes Ovalle, Lucía.

55

Parental age as a risk factor for isolated congenital malformations in a Polish population.  

Science.gov (United States)

Currently available data on the relationship between the prevalence of isolated congenital malformations and parental age are inconsistent and frequently divergent. We utilised the data from the Polish Registry of Congenital Malformations (PRCM) to accurately assess the interplay between maternal and paternal age in the risk of isolated non-syndromic congenital malformations. Out of 902 452 livebirths we studied 8683 children aged 0-2 years registered in the PRCM. Logistic regression was used to simultaneously adjust the risk estimates for maternal and paternal age. Our data indicated that paternal and maternal age were independently associated with several congenital malformations. Based on our data, young maternal and paternal ages were independently associated with gastroschisis. In addition, young maternal age, but not young paternal age, carried a higher risk of neural tube defects. Advanced maternal and paternal ages were both independently associated with congenital heart defects. Moreover, there was a positive association between advanced paternal age and hypospadias, cleft palate, and cleft lip (with or without cleft palate). No significant relationships between parental age and the following congenital malformations were detected: microcephaly, hydrocephaly, oesophageal atresia, atresia or stenosis of small and/or large intestine, ano-rectal atresia or stenosis, renal agenesis or hypoplasia, cystic kidney disease, congenital hydronephrosis, diaphragmatic hernia and omphalocele. PMID:19228312

Materna-Kiryluk, Anna; Wi?niewska, Katarzyna; Badura-Stronka, Magdalena; Mejnartowicz, Jan; Wieckowska, Barbara; Balcar-Boro?, Anna; Czerwionka-Szaflarska, Mieczyslawa; Gajewska, Elzbieta; Godula-Stuglik, Urszula; Krawczy?ski, Marian; Limon, Janusz; Rusin, Jozef; Sawulicka-Oleszczuk, Henryka; Szwalkiewicz-Warowicka, Ewa; Walczak, Mieczyslaw; Latos-Biele?ska, Anna

2009-01-01

56

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

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

Arezo Mirfazeli

2013-01-01

57

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

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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

58

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

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

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

2014-01-01

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Thoracoscopic resection of congenital cystic adenomatoid malformation in an adolescent.  

Science.gov (United States)

Congenital cystic adenomatoid malformation (CCAM) in adolescents or adults is extremely rare. In this case study, a 17-year-old boy was admitted to our clinic for the treatment of a giant bulla in the lower lobe of the right lung. Preoperative imaging studies led to the diagnosis of cystic lung disease. The patient underwent wedge resection of the right lower lobe with VATS, and histological examination confirmed the presentation of type 1 CCAM. A thoracoscopic lobectomy was performed after the second surgery because of postoperative air leakage.Herein, we report a case of CCAM in an adolescent. VATS was a suitable procedure for the operation. Between the parenchyma-saving resection and lobectomy for CCAM, we believe that the lobectomy is the better treatment option when the extent of the disease cannot be determined clearly or it is extremely large. Therefore, strategies for deciding between parenchyma-saving resection and lobectomy for the treatment of CCAM should be developed. PMID:23347706

Shimizu, Seiichi; Yamashita, Yoshinori; Mukaida, Hidenori; Hirabayashi, Naoki; Egawa, Hiromi; Kaneko, Mayumi; Sakatani, Akio; Takiyama, Wataru

2013-02-01

60

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

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

Karapurkar S

1993-10-01

 
 
 
 
61

Study of Congenital Malformations in Central Nervous System AND Gastro- Intestinal Tract  

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Full Text Available Introduction: Congenital malformations comprise 8% of the perinatal mortality in India. They rank fifth as a cause of perinatal mortality, after asphyxia, respiratory problems, infections and cerebral trauma. However, the pattern is changing rapidly with improvement in health care and living standards. Material & Method: In the present study, authors have tried to study the cases of congenital malformations specially related to Central nervous system and Gastro-intestinal system. 5240 cases of newborn babies were studied and results were analyzed and classified in to various categories. Findings: The results show that malformations are more common in still birth, more in female babies and more in central nervous system In live born babies the percentage of malformation is0.63 % whereas in still born baby it is6.53 %. Conclusions: Chances of having malformations increases as the age advances. Parity of mother also influences the incidence. Exposure to radiation & drugs also influences malformations. Incidence of congenital malformation is highest in central nervous system. [National J of Med Res 2012; 2(2.000: 121-123

Saiyad SS

2012-04-01

62

Congenital malformations at birth in Central India: A rural medical college hospital based data  

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Full Text Available Objective: To study the incidence of congenital anomalies and the associated risk factors in Department of Pediatrics at Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha, a rural medical college hospital in central Maharashtra. Materials and Methods: All the intramural deliveries between 1 January 2005 and 31 July 2007 comprised 9386 births and their 9324 mothers (62 mothers gave birth to twin babies. The newborns were examined and assessed systematically for the presence of congenital anomalies, system wise distribution of anomalies and risk factors attributable. Results: Out of the total 9386 deliveries, 9194 were live births and 192 were stillbirths. The total number of babies with congenital malformations was 179 (1.91%. Out of the 9262 singleton births, 177 (1.05% were malformed, whereas 2 of the 62 pairs of twins had birth defects. Nine of the 179 malformed babies (5.02% were still born. Prematurity, increased maternal age, increasing birth order and low birth weight were found to have a higher risk of congenital anomalies. Cardiovascular malformations were most common in live births, followed by musculoskeletal and genitourinary anomalies. Conclusion: Congenital anomalies are a major cause of stillbirths and infant mortality. Evaluation of cardiovascular system to rule out congenital heart disease in high-risk mothers? babies is the important factor to be considered.

Taksande Amar

2010-01-01

63

Congenital malformation and fetal mortality trends in counties surrounding Oak Ridge  

International Nuclear Information System (INIS)

Stillbirth and congenital malformation death data have been evaluated for counties surrounding the Oak Ridge nuclear facilities. The observed values were compared with expected values, based on state of Tennessee and East Tennessee rates, for three time periods: prior to the existence of the nuclear facilities; the early years of operation; and the later years of operation. Oak Ridge, which is the closest city to the nuclear facilities, had significantly fewer stillbirths and no difference in congenital malformations as compared with the state or East Tennessee. No time trend was observed in the 8-county data which could be associated with the higher levels of radioactive releases during the 1944 to 1957 period followed by a period of lesser releases in the 1958 to 1971 period. However, a clustering of stillbirths was found for the last time period. In the study, no significant relationship was found between the occurrence of stillbirths and congenital malformation deaths

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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

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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 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

2006-04-01

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Congenital malformations of the central nervous system: clinical approach.  

Science.gov (United States)

Central nervous system (CNS) malformations represent important factor of morbidity and mortality in children. The aim of the study was to determine the incidence, type and clinical features of CNS malformations in children who were admitted at the Neonatal and Child Neurology Department, Neonatal Intensive Care Unit and Paediatric Intensive Care Unit of Paediatric Clinic, University of Sarajevo Clinics Centre, from January 1st, 2002 to December 31st, 2006. There were total of 16520 admissions at the Paediatric Clinic over the studied period. CNS malformations, solitary or multiple, have been diagnosed in 100 patients (0,61%). The total number of various CNS malformations was 127. Lethal outcome was established in 9/100 cases (9%). The most frequent CNS malformations were neural tube defects 49/127 (38,6%). Hydrocephalus was seen in 34/127 (26,8%), microcephaly in 24/127 (18,9%), agenesis of corpus callosum in 10/127 (7,9%), Dandy Walker malformation in 6/127 (4,7%) and other CNS malformations in 4/127 (3,1%). In 20/100 of patients neural tube defect was associated with hydrocephalus (20%). CNS malformations were prenatally diagnosed in 13/100 of patients (13%). Primary prevention of CNS malformations can be improved in our country by better implementation of preconceptional folic acid therapy for all women of childbearing age. Secondary prevention by prenatal diagnosis requires advanced technical equipment and adequate education of physicians in the field of foetal ultrasonography. In our circumstances, prenatal diagnostics of CNS malformations is still not developed enough. PMID:19125708

Hadzagi?-Catibusi?, Feriha; Maksi?, Hajrija; Uzicanin, Sajra; Helji?, Suada; Zubcevi?, Smail; Merhemi?, Zulejha; Cengi?, Adisa; Kulenovi?, Edina

2008-11-01

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Malformación adenomatoidea quística congénita / Congenital cystic adenomatous malformation  

Scientific Electronic Library Online (English)

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

PILAR, ANTÓN-MARTÍN; M. TERESA, CUESTA-RUBIO; M. FERNANDA, LÓPEZ-GONZÁLEZ; ROBERTO, ORTIZ-MOVILLA; M. LUISA, LORENTE-JAREÑO; ESTHER, LÓPEZ-RODRÍGUEZ; LUCÍA, CABANILLAS-VILAPLANA.

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Bisphenol A induces otolith malformations during vertebrate embryogenesis  

Directory of Open Access Journals (Sweden)

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

Demeneix Barbara

2011-01-01

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Effects of Complex Vertebral Malformation on Fertility in Swedish Holstein Cattle  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Complex vertebral malformation (CVM) is an autosomal recessive inherited defect in the Holstein breed. It causes intra-uterine mortality through the entire gestation period leading to repeat breeding and involuntary culling of cows and thereby economic losses. The defect was first reported in Denmark in 1999 and a direct DNA test for the defect has been available since February 2001. The aim of this study was to investigate if Holstein bulls heterozygous for the CVM gene had reduced r...

Berglund Britt; Persson Anna; Stålhammar Hans

2004-01-01

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

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

2012-01-01

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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; Thulstrup, A M

2014-01-01

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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.

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The Use of Cyanoacrylate Adhesives in the Management of Congenital Vascular Malformations  

Digital Repository Infrastructure Vision for European Research (DRIVER)

This article outlines the use of liquid acrylic adhesives in the management of congenital vascular malformations. Specifically, the chemical features of cyanoacrylates, including the physical and chemical properties, exovascular use of cyanoacrylates, and the techniques for use of these agents, are discussed.

Rosen, Robert J.; Contractor, Sohail

2004-01-01

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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.

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

2013-01-01

75

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

76

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

77

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

International Nuclear Information System (INIS)

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

2007-01-01

78

Major congenital malformations in the high and normal level radiation areas of southwest coast of Kerala  

International Nuclear Information System (INIS)

Congenital malformations are defects in organogenesis during the fetal periods and its influence on the individual may vary according to the type of malformation. Some congenital malformations are trivial and may not have any significance but for a minimal cosmetic deformity. Major malformations on the contrary may be severe enough to be life-threatening with serious structural, functional or cosmetic disability requiring surgical or medical management and are an important cause of mortality and morbidity all over the world. The present paper analyses the major malformations detected during the monitoring of newborns in selected government hospitals in and around the high level natural radiation areas of Kerala, a narrow strip of land in the southwest coast extending from Purakkad panchayat of Alapuzha district in the north to Neendakara Panchayat of Quilon district in the south. The coastal area has natural deposits of Monazite sand containing Thorium. Thorium together with its daughter products accounts for the elevated levels of natural radiation. The finding in general was in conformity with similar works on malformations

2012-01-01

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

Directory of Open Access Journals (Sweden)

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

Schmidt D

2010-02-01

80

The surgical management and outcome of congenital mediastinal malformations  

Digital Repository Infrastructure Vision for European Research (DRIVER)

We reviewed our institutional experience with congenital mediastinal masses and compared the postnatal management and outcome of patients with or without prenatal diagnosis. Between January 1997 and August 2011, 24 patients underwent surgical procedures for congenital mediastinal mass. For eight patients, the mass was detected by prenatal ultrasonography at 27 weeks of gestation (range 22–35). Postnatal management consisted in open surgery for seven patients at a mean age of 9 months (range...

2012-01-01

 
 
 
 
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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.

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

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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

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

International Nuclear Information System (INIS)

We retrospectively analyzed 26 ears of 21 subjects having auditory ossicular malformation and who had undergone auditory reconstruction between April 2004 and December 2010 at our clinic. We checked preoperative condition, pathological classification, surgical procedure, and hearing improvement. We could predict pathological conditions precisely from preoperative computed tomography (CT), including incudostapedial disconnection (9/12, 75%) and malleus and/or incus fixation (7/12, 58%), which tended to be present in external ear malformation, and stapes footplate fixation (0/12, 0%). We could not, however, predict complex malformation (0/8, 0%). Overall success was 90% (18/20) in the 20 ears observed for at least 1 year. In the 2 ears without improved hearing, the first had congenital cholesteatoma and no stapes superstructure, was treated with type IV tympanoplasty. The second had malleus, incus, and stapes fixation and discontinuity between the incus and stapes, and was treated with type III tympanoplasty and stapes mobilization. Preoperative diagnosis is difficult in mixed congenital auditory ossicular malformation, especially stapes footplate fixation, possibly requiring unexpected procedures, with a poor hearing outcome. Preoperative status must thus be evaluated precisely using hearing, tympanometry, acoustic reflex test, and CT. Temporal bone CT and external ear findings are useful in diagnosing middle-ear malformation. Subjects' informed consent should also be obtained due to the possible need for changing procedure based on findings during surgery. (author)

2012-03-01

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Congenital umbilical arterio-venous malformation: a word of caution.  

Science.gov (United States)

We report on an 18-month old girl who presented in good clinical shape with a pulsatile tumour in the umbilical area which had a shape and localization similar to that of an umbilical bowel hernia. The Doppler ultrasound of the umbilical tumour revealed a large arterio-venous vascular malformation with a haemodynamically significant blood shunting. Furthermore, the inferior caval vein and the hepatic veins were dilated. Computed tomography angiography revealed permeable umbilical veins and arteries communicating within a large dilated arterio-venous fistula. The growing tumour was excised without any perioperative complications. Further postoperative recovery was uneventful and the baby was discharged 10 days after surgery. We advocate careful antenatal ultrasound evaluation of these vascular malformations. Early surgical removal in newborns is vital in order to avoid severe complications. PMID:24550232

Gozar, Horea; Gozar, Liliana; Badiu, Catalin Constantin; Suciu, Horatiu

2014-05-01

85

Clinical approach for the classification of congenital uterine malformations  

Digital Repository Infrastructure Vision for European Research (DRIVER)

A more objective, accurate and non-invasive estimation of uterine morphology is nowadays feasible based on the use of modern imaging techniques. The validity of the current classification systems in effective categorization of the female genital malformations has been already challenged. A new clinical approach for the classification of uterine anomalies is proposed. Deviation from normal uterine anatomy is the basic characteristic used in analogy to the American Fertility Society classificat...

2012-01-01

86

Neospora caninum and complex vertebral malformation as possible causes of bovine fetal mummification  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Bovine neosporosis, caused by Neospora caninum is a leading cause of abortion in cattle. We postulated that neosporosis could lead to fetal death and mummification. Fifteen mummified fetuses were tested by polymerase chain reaction (PCR) for the mutation in the bovine SLC35A3 gene that causes complex vertebral malformation (CVM) and the pNC-5 gene which identifies N. caninum infection. DNA was extracted from the mummified fetuses and the sex of the mummies was determined by PCR. The CVM mutat...

Ghanem, Mohamed Elshabrawy; Suzuki, Toshihiko; Akita, Masashi; Nishibori, Masahide

2009-01-01

87

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

Scientific Electronic Library Online (English)

Full Text Available SciELO Cuba | Language: Spanish Abstract in spanish Se realizó un estudio descriptivo y prospectivo de 173 embarazadas atendidas en el Departamento Provincial de Genética Clínica de Santiago de Cuba, desde enero del 2000 hasta diciembre del 2004, para identificar las malformaciones congénitas del sistema nervioso central detectadas mediante la ecogra [...] fía. La malformación más frecuente fue la hidrocefalia, seguida de los defectos de fusión de la columna vertebral, asociados con la hidrocefalia y la ausencia de cavidad craneana. Hubo predominio de la alfafetoproteína alterada y del líquido amniótico elevado. Abstract in english A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most f [...] requent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid.

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

2010-03-21

88

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

Directory of Open Access Journals (Sweden)

Full Text Available Se realizó un estudio descriptivo y prospectivo de 173 embarazadas atendidas en el Departamento Provincial de Genética Clínica de Santiago de Cuba, desde enero del 2000 hasta diciembre del 2004, para identificar las malformaciones congénitas del sistema nervioso central detectadas mediante la ecografía. La malformación más frecuente fue la hidrocefalia, seguida de los defectos de fusión de la columna vertebral, asociados con la hidrocefalia y la ausencia de cavidad craneana. Hubo predominio de la alfafetoproteína alterada y del líquido amniótico elevado.A descriptive and prospective study was conducted in 173 pregnant women attended at the Provincial Department of Clinical Genetics of Santiago de Cuba, from January, 2000 to December, 2004, to identify congenital malformations of the central nervous system detected by means of echography. The most frequent malformation was the hydrocephaly, followed by the fusion defects of the spine, associated with the hydrocephaly and the absence of cranial cavity. There was a prevalence of altered alpha fetoprotein and of elevated amniotic fluid.

Carlos Andrés Toirac Romani

89

[Genetic-demographic structure and prevalence of congenital malformations in rural regions of the Kursk district].  

Science.gov (United States)

Investigation of the the genetics, demography, and epidemiology of congenital malformations (CMs) in Kursk oblast revealed statistically significant correlations between population parameters and the incidence of CM in the rural rations of the oblast. The general prevalence of CM and that of the separate CM forms ("guard" CM, multiple CM, hemangioma, congenital heart disease, congenital myelocele, talipes valgus, congenital femoral luxation, polydactyly, cryptorchism) increased with an increase in the average marital age of men and women of the reproductive part of the population and with an increase in the level of the populations homozygosity (an increase in the local consanguinity and ethnic marriage assortativeness, a decrease in the populations's migration activity, an increase in the proportion of genotypes homozygous for recessive genes, etc). PMID:9719933

Ivanov, V P; Churnosov, M I; Kirilenko, A I

1998-06-01

90

Tailored embolotherapy of congenital arteriovenous malformations, 1978-1986  

International Nuclear Information System (INIS)

Since 1978, 20 patients have been evaluated with symptomatic arteriovenous malformations (AVM) involving the pelvis in seven, the leg in four, and the arm in nine. Fifteen patients had disabling symptoms, and arteriography defined the vascular anatomy, the means of access to the fistulae, and the transit time through the AVM. Treatment for the ten most symptomatic patients included injection of isobutylcyanoacrylate or particulate polyvinyl alcohol. All ten patients experienced dramatic reduction in flow and resolution of ulceration, bleeding, and pain over a mean follow-up period of 35 months. The author conclude that AVM embolization is highly effective for providing effective palliation and should be the therapy of choice

1986-12-05

91

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

LENUS (Irish Health Repository)

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

Collins, Anne M

2012-02-01

92

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 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

1988-01-01

93

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.)

2006-02-01

94

Birth-related characteristics, congenital malformation, maternal reproductive history and neuroblastoma: The ESCALE study (SFCE).  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Since neuroblastoma occurs very early in children's lives, it has been hypothesized that pre- and perinatal factors may play a role in its etiology. This study investigated the role of birth characteristics, congenital malformation and maternal reproductive history in neuroblastoma. The data used were generated by the national population-based case-control study, ESCALE, conducted in France in 2003-2004. The mothers of 191 neuroblastoma cases and 1,681 controls, frequency-matched by age and g...

Munzer, Caroline; Menegaux, Florence; Lacour, Brigitte; Valteau-couanet, Dominique; Michon, Jean; Coze, Carole; Bergeron, Christophe; Auvrignon, Anne; Bernard, Fre?de?ric; Thomas, Caroline; Vannier, Jean-pierre; Kanold, Justyna; Rubie, Herve?; He?mon, Denis; Clavel, Jacqueline

2007-01-01

95

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

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BACKGROUND: Type I pleuropulmonary blastoma (PPB) and congenital cystic adenomatoid malformation of the lung (CCAM) are cystic lung diseases of childhood. Their clinical and radiological presentations are often similar, and pathologic discrimination remains difficult in many cases. As a consequence, type I PPB and CCAM are frequently confused, leading to delayed adequate management for type I PPB. Recent studies have suggested a role for fibroblast growth factor (FGF) 10 signal pathway in CCA...

Lezmi, Guillaume; Verkarre, Virginie; Khen-dunlop, Naziha; Vibhushan, Shamila; Hadchouel, Alice; Rambaud, Caroline; Copin, Marie-christine; Rittie, Jean-luc; Benachi, Alexandra; Fournet, Jean-christophe; Delacourt, Christophe

2013-01-01

96

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

Objectives: To study the overall and individual incidence of clinically detectable congenital malformations in newborns delivered at a tertiary hospital and to find out the associated maternal factors. Methodology: The present study is a prospective study of all the newborns delivered at Obstetrics and Gynecology Department, SSG Hospital, Baroda for a period of one year in which total 4058 consecutively born babies were examined for all visible structural anomalies and associated maternal fac...

Sumit Gupta; Parul Gupta; Soni, Jagdish S.

2012-01-01

97

Images in Clinical Medicine Congenital Neural Malformations Related to Their Embryological Background  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Congenital neural malformations are complex anomalies, which stem from an abnormality in the embryological development of the nervous system. The development of the nervous system begins by the formation of the neural tube and its subsequent closure. The failure of closure results in neural tube defects (NTD). Defect in the formation of prosencehalon or rhombencephalon will result in holoprosencephaly or Dandy walker complex respectively. The formation of neuroblasts and their migration to ce...

Bahnassy, Ahmed A.; Aly, Nehal N.

2008-01-01

98

Birth-related characteristics, congenital malformation, maternal reproductive history and neuroblastoma: the ESCALE study (SFCE)  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Since neuroblastoma (NB) occurs very early in children’s lives, it has been hypothesized that pre- and perinatal factors may play a role in its etiology. This study investigated the role of birth characteristics, congenital malformation and maternal reproductive history in neuroblastoma. The data used were generated by the national population-based case-control study, ESCALE, conducted in France in 2003–2004. The mothers of 191 neuroblastoma cases and 1681 controls, frequency-matched by a...

Munzer, Caroline; Menegaux, Florence; Lacour, Brigitte; Valteau-couanet, Dominique; Michon, Jean; Coze, Carole; Bergeron, Christophe; Auvrignon, Anne; Bernard, Fre?de?ric; Thomas, Caroline; Vannier, Jean-pierre; Kanold, Justyna; Rubie, Herve?; He?mon, Denis; Clavel, Jacqueline

2008-01-01

99

Cardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Background:G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. Case Presentation:In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN) with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/µl was d...

Aziz Eghbali; Peyman Eshghi; Fatemeh Malek; Nima Rezaei

2010-01-01

100

Genetic screening of 202 individuals with congenital limb malformations and requiring reconstructive surgery  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Abstract Introduction: Congenital limb malformations (CLMs) are common and present to a variety of specialties, notably plastic and orthopaedic surgeons, and clinical geneticists. We aimed to characterise causative mutations in an unselected cohort of patients with CLMs requiring reconstructive surgery. Methods: Two hundred and two patients presenting with CLM were recruited. We obtained G-banded karyotypes and screened EN1, GLI3, HAND2, HOXD13, ROR2, SALL1, SALL4, ZRS o...

2009-01-01

 
 
 
 
101

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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

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

2009-01-01

102

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

103

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

International Nuclear Information System (INIS)

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

2005-12-01

104

Gastrointestinal system malformations in children are associated with congenital heart defects  

Directory of Open Access Journals (Sweden)

Full Text Available Objective: To determine the frequency of congenital heart defects (CHD in children with gastrointestinal malformations (GISM and mortality rates in patients with GISM. Methods: Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Results: Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8% were male and 107 (44.2% were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%, atresia involving stomach, ileum or colon (21% and esophageal atresia/tracheoesophageal fistula (18.3%. Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9% a, ventricular septal defect (17 patients, 24.6% and patent ductus arteriosus (5 patients, 7.2%. There was no significant difference (p>0.05 in mortality rate in patients with CHD (16.7% and without CHD (13.3% undergoing operations for GISM. Conclusion: We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

Utku Arman Örün

2011-03-01

105

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

Directory of Open Access Journals (Sweden)

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

Sumit Gupta

2012-02-01

106

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)

2008-01-01

107

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.

108

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

Energy Technology Data Exchange (ETDEWEB)

The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

2006-07-15

109

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

International Nuclear Information System (INIS)

The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

2006-07-01

110

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

111

Neospora caninum and complex vertebral malformation as possible causes of bovine fetal mummification.  

Science.gov (United States)

Bovine neosporosis, caused by Neospora caninum is a leading cause of abortion in cattle. We postulated that neosporosis could lead to fetal death and mummification. Fifteen mummified fetuses were tested by polymerase chain reaction (PCR) for the mutation in the bovine SLC35A3 gene that causes complex vertebral malformation (CVM) and the pNC-5 gene which identifies N. caninum infection. DNA was extracted from the mummified fetuses and the sex of the mummies was determined by PCR. The CVM mutation was not detected in the mummified fetuses, but 4 fetuses were positive for N. caninum infection. The ages of the mummies with N. caninum infection were 100, 113, 123, and 131 days. Twelve of the 15 mummified fetuses were male. To our knowledge, this is the first detection of N. caninum as a possible cause of bovine fetal mummification. PMID:19436446

Ghanem, Mohamed Elshabrawy; Suzuki, Toshihiko; Akita, Masashi; Nishibori, Masahide

2009-04-01

112

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

113

Congenital malformations in embryos of female mice exposed to alcohol and nicotinamide  

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Full Text Available Objective: To compare the incidence of congenital malformations among the offspring of female mice exposed to alcohol or alcohol plus nicotinamide. Methods: Three groups of pregnant C57BL/6J mice were studied; G1 received alcohol (5 g/kg in saline solution (20% - vol/vol; G2 received nicotinamide, 50 mg/ml associated to alcohol; and G3, only saline solution; all by intraperitoneal injection on the seventh day of pregnancy. The animals were killed in a CO2 chamber on day 18 of pregnancy. The intrauterine content was assessed and the number of complete and reabsorbed fetuses was counted. The complete fetuses had their weight and crown-rump length measured and malformations were identified. Rresults: G1 showed the highest number of malformations: micrognathia, low set ears, hypertrophic nose, scoliosis, and atrophy of the lower and upper limbs. Weight was significantly different among the groups (p = 0.0139, and in G1 it was below average as compared to G3 (p = 0.3133. As for length, the lowest values were found in G2 and G3 showed the highest ones. There was a significant difference among the groups (p = 0.0145. Cconclusions: Ethanol, when administered to pregnant mice was teratogenic. However, length of G1 fetuses was, in average, higher than that of other groups. Nicotinamide decreased the number of malformations and may be a possible protector against alcohol effects.

Natasha Soares Simões dos Santos

2009-03-01

114

PRENATAL CONGENITAL CYSTIC ADENOMATOID MALFORMATION DETECTED COINCIDENTALLY BY OBSTETRIC ULTRASOUND EXAMINATION  

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

Serdar Serinsöz

2009-01-01

115

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

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

Sonfada Mamman Legbo

2010-02-01

116

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

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

Kumar Basant

2008-01-01

117

An unusual prenatal manifestation of a huge congenital cystic adenomatoid malformation with favorable perinatal outcome.  

Science.gov (United States)

Congenital cystic adenomatoid malformation (CCAM) is a rare condition which is easily detectable by prenatal ultrasonography. Fetuses with large CCAMs associating with hydrops are predisposed to perinatal mortality, therefore prenatal intervention is required. While macrocystic CCAM is treated prenatally by thoracentesis or thoraco-amniotic shunt, microcystic or mixed CCAM is difficult to manage in the fetus. In these latter lesions, fetal lobectomy, sclerotherapy, or laser ablation was used to treat lesions directly. We present an unusual prenatal case of mixed CCAM associating with hydrops and marked ascites, which was conservatively managed with prenatal abdomino-amniotic shunting and successfully treated by postnatal surgery. PMID:24596822

Suk, Hye-Jin; Won, Hye-Sung; Lee, Eun Jung; Lee, Mi-Young

2014-01-01

118

Fetal Deaths and Congenital Malformations in Progenies of Iranian Chemical Victims  

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

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

2011-01-01

119

Pelvic congenital arteriovenous malformation diagnosed by transrectal ultrasonography: A case report  

Science.gov (United States)

Arteriovenous malformations (AVMs) of the pelvis are relatively rare and difficult to treat because of multiple and extensive feeding vessels. We report the case of a 69-year-old male with pelvic congenital AVM that was detected during tests for dysuria. He visited our hospital complaining of voiding difficulty. Digital rectal examination revealed a pulsating mass that was palpable on the right side of the prostate. Transrectal ultrasonography showed multiple hypoechoic lesions adjacent to the prostate and colour Doppler ultrasonography revealed the flow regions corresponded to the hypoechoic lesions. Computed tomography demonstrated large-to-small tubular vessels adjacent to the prostate, while pelvic angiography showed many small feeder arteries extending mainly from the right internal iliac artery. He was diagnosed as having pelvic congenital AVM. Uroflowmetry revealed slight voiding difficulty without residual urine. The patient decided against treatment and requested we monitor his clinical course.

Suzuki, Kenjiro; Tanaka, Nobuyuki; Ebine, Takashi; Momma, Tetsuo

2012-01-01

120

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.)

2006-11-01

 
 
 
 
121

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

122

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

123

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

International Nuclear Information System (INIS)

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

2009-06-01

124

Radioecological situation and indices of congenital malformations, spontaneous abortions and stillbirth in different zones of Majluusuu town  

International Nuclear Information System (INIS)

In a 22 years of exploitation of the Majluusuu uranium deposit was extracted more 10 000 tone of uranium concentrate. Total volume of radioactive wastes is 2 million square meters which are disposed in 23 tailing dumps. Total radioactivity of radioactive wastes is about 50000 Ci. Radium, uranium and thorium are main radionuclides in the tailing dumps with concentrations 8%, 4% and 4% correspondingly. One of the main reasons of spontaneous abortions are embryo pathologies. 25-30% embryos of first 10-12 weeks of pregnancy had congenital malformations. Therefore influence of radioactive background on congenital malformations, spontaneous abortions and stillbirth in different zones of Majluusuu town are investigated. (authors)

2006-05-01

125

Congenital inner ear malformation: three dimensional volume rendering image using MR CISS sequence  

Energy Technology Data Exchange (ETDEWEB)

To evaluate three-dimensional volume-rendering of congenital inner-ear malformations using the MR CISS(Constructive Interference in Steady State) sequence. MR CISS images of 30 inner ears of 15 patients (M:F=10.5; mean age, 6.5years) in whom inner-ear malformation was suspected were obtained using a superconducting Magnetom Vision System (Simens, Erlangen, Germany), with TR/TE/FA parameters of 12.25 ms/5.9 ms/70.deg.. The images obtained were processed by means of the volume rendering technique at an advanced workstation (Voxtol 3.0.0; GE Systems, advanced workstation, volume analysis). The cochlea and three semicircular canals were morphologically evaluated. Volume-rendered images of 25 inner ears of 13 patients demonstrated cochlear anomalies in the form of incomplete partition (n=18), hypoplasia (n=2), and severe hypoplasia (n=5). For the superior semicircular canal, findings were normal in 15 ears, though common crus aplasia (n=6), hypoplasia (n=4), aplasia (n=3), and a short and broad shape (n=2) were also observed. The posterior semicircular canal of 13 ears was normal, but common crus aplasia (n=6), a short and broad shape (n=5), aplasia (n=4), hypoplasia (n=3) were also identified. Twelve lateral semicircular canals, were normal, but other images depicted a short and broad shape (n=7), a dilated crus (n=5), a broad shape (n=4), and aplasia (n=2). In 14 patients the anomalies were bilateral, and in seven, the same anomalies affected both ears. Three-dimensional volume rendering images of the inner ear depicted various morphological abnormalities of the cochlea and semicircular canals. At that locations, anomalies were more complicated and varied than in the cochlea. Three-dimensional volume rendering imaging using the MR CISS technique provides anatomical information regarding the membranous labyrinth, and we consider this useful in the evaluation of congenital inner ear malformations.

Song, Jong Woon; Lee, In Sook; Kim, Hak Jin; Goh, Eui Kyung; Kim, Lee Suk [College of Medicine, Pusan National Univ., Pusan (Korea, Republic of)

2003-10-01

126

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 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

2012-11-01

127

Effects of complex vertebral malformation on fertility in Swedish holstein cattle.  

Science.gov (United States)

Complex vertebral malformation (CVM) is an autosomal recessive inherited defect in the Holstein breed. It causes intra-uterine mortality through the entire gestation period leading to repeat breeding and involuntary culling of cows and thereby economic losses. The defect was first reported in Denmark in 1999 and a direct DNA test for the defect has been available since February 2001. The aim of this study was to investigate if Holstein bulls heterozygous for the CVM gene had reduced reproductive performance, measured as non-return rate (NRR) and in a daughter fertility index. All genotyped Swedish Holstein bulls born between 1995 and 1999 were included. Altogether 228 bulls were analysed, of which 53 bulls, i.e. 23%, were confirmed CVM carriers. A statistically significant difference between carriers and non-carriers in the relative breeding value for NRR was observed for 168 days NRR (101.1+/-0.9 vs. 103.1+/-0.6, p<0.05). There was no difference for 28 days NRR whereas the difference approached significance for 56 days NRR. No significant effect of the paternal CVM genotype on the daughter fertility index was shown probably due to the complexity of traits this index is composed of. In conclusion, the study showed that carriers of the CVM defect have an inferior NRR compared with non-carriers. PMID:15663076

Berglund, Britt; Persson, Anna; Stålhammar, Hans

2004-01-01

128

Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung  

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Abstract Background Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management. Case presentation We present a case of monochorionic triamniotic triplet pregnancy diagnosed at 15 weeks of gestation with one fetus having developed a multicystic lung lesion, suggestive of congenital cystic adenomatoid malformation (CCAM). At 24 weeks, the larges...

2005-01-01

129

Fetal Deaths and Congenital Malformations in Progenies of Iranian Chemical Victims  

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Full Text Available

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

Methods: The subjects were progenies of a randomly selected population from survivors of chemical attacks during Iran-Iraq conflict. Totally 807 male cases ranged 18-85 years old (average=33.5 were included in the test. They were married and had been injured at lea t once with chemical warfare; all of them had been brought back to their normal voiding condition.

Results: The selected subjects were categorized into case and control groups: children were born after and before their parents being injured chemically, respectively. The incidence of fetal deaths and congenital malformations in these two groups were significantly different (P < 0.05.

Conclusion: Parental exposure to chemical weapons may be associated with an increased risk for some congenital malformations.

DD Farhud

2011-09-01

130

Computer tomography for congenital malformation, and inflammatory and degenerative changes of spine  

International Nuclear Information System (INIS)

Technical improvements and the use of intrathecal Metrizamide have made computer tomography of the spine a valuable diagnostic method. The value of CT in demonstrating morphological changes in the spine was investigated in 77 examinations of congenital malformation or inflammatory and degenerative disease. Measurements of the spinal canal provide more accurate information than conventional radiology and these are discussed. Intradural injection of contrast medium makes it possible to diagnose abnormalities of the cord by means of CT. Inflammatory changes in the spine and in the paraspinal soft tissues are shown at an early stage. A diagnosis of tumour can be confirmed by CT-controlled needle biopsy. It is usually possible to demonstrate disc prolapse without the use of contrast medium. On the other hand, the investigation of pain following disc operations remains a difficult problem. (orig.)

1982-11-01

131

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. 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)

2003-04-01

132

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

133

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

134

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

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

Julio Nazer H

2008-02-01

135

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

Scientific Electronic Library Online (English)

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

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

136

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

137

Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children.  

Science.gov (United States)

A series of 1042 reports of necropsies on children dying at Children's Hospital of Pittsburgh was reviewed. In each case, note was taken of the status of the spleen, the lobation of the lungs, the arrangement of the bronchi, the morphology of the atrial appendages, and the presence of any congenital malformations of the heart and great vessels and of any malformations of the abdominal organs. There was isomerism of the left atrial appendages in eight (0.77%), 13 (1.25%) showed isomerism of the right appendages, and seven (0.67%) had multiple spleens without having isomerism of the atrial appendages. Unexpectedly, a normal spleen was found in one patient with isomerism of the right appendages and also in a patient with isomerism of the left appendages. In one patient with isomeric left atrial appendages there was no spleen. The review showed that the morphology of the atrial appendages, and hence the arrangement of the atria, is not accurately predicted by the type of spleen. The arrangement of the atrial appendages is the most reliable guide to the recognised combinations of congenital cardiac malformations previously described as "splenic syndromes". Because there is no certain way of predicting all the malformations in patients with complex congenital heart disease, it is advisable to record separately for each patient the details of lobation of the lungs, the bronchial and atrial arrangement, anomalies of the heart and great vessels, the type of spleen, and any abnormal arrangement of the abdominal organs. PMID:2317406

Anderson, C; Devine, W A; Anderson, R H; Debich, D E; Zuberbuhler, J R

1990-02-01

138

Congenital malformations of the central nervous system at the Jos University Teaching Hospital, Jos Plateau State of Nigeria.  

Science.gov (United States)

The pattern of congenital malformation of the central nervous system (CNS) as seen in Jos University Teaching Hospital (JUTH) is slightly different from that seen in Europe, Japan and Southern Nigeria. Not all the various types of CNS malformations reported from these centres have been seen in JUTH. Myelomeningocele was the commonest anomaly of the CNS seen and it accounted for more than 60% of all cases. Bilateral talipes equinovarus deformity was the commonest associated anomaly found. No case of anencephaly was seen in this study. PMID:1637744

Binitie, O P

1992-01-01

139

Abnormalities of the spleen in relation to congenital malformations of the heart: a survey of necropsy findings in children.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

A series of 1042 reports of necropsies on children dying at Children's Hospital of Pittsburgh was reviewed. In each case, note was taken of the status of the spleen, the lobation of the lungs, the arrangement of the bronchi, the morphology of the atrial appendages, and the presence of any congenital malformations of the heart and great vessels and of any malformations of the abdominal organs. There was isomerism of the left atrial appendages in eight (0.77%), 13 (1.25%) showed isomerism of th...

Anderson, C.; Devine, W. A.; Anderson, R. H.; Debich, D. E.; Zuberbuhler, J. R.

1990-01-01

140

Combination of congenital malformations of the kidneys and efferent urinary tract and malformations of the cardiovascular system  

International Nuclear Information System (INIS)

Compared with malformations of other organ systems, the heart and the large blood vessels as well as the kidneys with the efferent urinary tract are among the organs that most frequently show malformations. For an early diagnosis, excretory urograms are being taken at the authors' institute since 3 years ago. Urography is done subsequently to catheter examinations of the heat, 7 to 10 minutes after injection of a contrasting agent, and the pictures have a format of 70mm. In general the nephograms are easy to use and show malformations of the kidneys and the upper efferent urinary tract. (orig./AJ)

1978-10-28

 
 
 
 
141

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

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

Antônio Flávio M Dantas

2010-10-01

142

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

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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)

2007-01-01

143

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

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

2010-01-01

144

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

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

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

2012-01-01

145

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

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

146

HOXA10 and HOXA13 sequence variations in human female genital malformations including congenital absence of the uterus and vagina.  

Science.gov (United States)

Congenital genital malformations occurring in the female population are estimated to be 5 per 1000 and associate with infertility, abortion, stillbirth, preterm delivery and other organ abnormalities. Complete aplasia of the uterus, cervix and upper vagina (Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome) has an incidence of 1 per 4000 female live births. The molecular etiology of congenital genital malformations including MRKH is unknown up to date. The homeobox (HOX) genes HOXA10 and HOXA13 are involved in the development of human genitalia. In this investigation, HOXA10 and HOXA13 genes of 20 patients with the MRKH syndrome, 7 non-MRKH patients with genital malformations and 53 control women were sequenced to assess for DNA variations. A total of 14 DNA sequence variations (10 novel and 4 known) within exonic and untranslated regions were detected in HOXA10 and HOXA13 among our cohorts. Four HOXA10 and two HOXA13 DNA sequence variations were found solely in patients with genital malformations. In addition to mutations resulting in synonymous amino acid substitutions, in the HOXA10 gene a missense mutation was identified and predicted by computer analysis as probably damaging to protein function in two non-MRKH patients, one with a bicornate and the other patient with a septated uterus. A novel exonic HOXA10 cytosine deletion was also identified in a non-MRKH patient with a septate uterus and renal malformations resulting in a premature stop codon and loss of the homeodomain helix 3/4. This cytosine deletion and the missense mutation in HOXA10 were analysed by real time PCR and sequencing, respectively, in two additional larger cohorts of 103 patients with MRKH and 109 non-MRKH patients with genital malformations. No other patients were found with the cytosine deletion however one additional patient was identified regarding the missense mutation. Rare DNA sequence variations in the HOXA10 gene could contribute to the misdevelopment of female internal genitalia. PMID:23376215

Ekici, Arif B; Strissel, Pamela L; Oppelt, Patricia G; Renner, Stefan P; Brucker, Sara; Beckmann, Matthias W; Strick, Reiner

2013-04-15

147

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  

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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.

148

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

International Nuclear Information System (INIS)

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

2010-11-24

149

B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations.  

Science.gov (United States)

Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of ?-dystroglycan. They include disease entities such a Walker-Warburg syndrome, muscle-eye-brain disease and various other clinical phenotypes. Different genes involved in glycosylation of ?-dystroglycan are associated with these dystroglycanopathies. We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. Immunhistochemistry of skeletal muscle revealed reduced glycosylated ?-dystroglycan. Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. By whole exome sequencing, the patient was identified to be compound heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 (?-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2). This patient showed a milder phenotype than previously described patients with mutations in the B3GALNT2 gene. PMID:24084573

Hedberg, Carola; Oldfors, Anders; Darin, Niklas

2014-05-01

150

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  

Science.gov (United States)

Introduction: 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.

Agergaard, Peter; Hebert, Anders; Bjerre, Jesper; S?rensen, Karina Meden; Olesen, Charlotte; ?stergaard, John Rosendal

2011-01-01

151

[Morphologic analysis of congenital central nervous system malformations in children from the first of life dying in the years 1986-1990].  

Science.gov (United States)

An incidence and morphology of the CNS congenital malformations in newborn babies and infants were analysed in the consecutive autopsies carried out in 1986-1990, i.e. following Tscharnobyl disaster. The obtained results were compared to those seen in the two earlier periods (1976-1980 and 1981-1986). In 1986-1990, a percentage of autopsies showing congenital CNS malformations increased approximately by two-fold (15%). The highest percentage of such malformations in specific years of the analysed period was noted in 1990 (20%). Central nervous system malformations were more frequent in female sex (57%) than in male sex (43%). In 64% of cases newborn babies were affected. A percentage of CNS malformations coexisting with other congenital malformations increased to 40% in the analysed period of time (from 29.4% in 1976-1985). Meningomyelocele (41%), congenital hydrocephalus (21.5%), multiple anomalies in brain (14%), and anencephaly (12.6%) constituted the most frequent group of CNS malformations. In 1986-1990, an incidence of meningomyelocele increased by more than two-fold (if this anomaly coexisted with hydrocephaly, an increase in the incidence exceeded three-fold), and hydrocephaly as well as an increase in the incidence of anencephaly by 1.5 times in comparison with 1976-1985. PMID:9273211

Sobaniec-Lotowska, M; Sobaniec, W; Sulkowska, M; Sulkowski, S; Ku?ak, W

1996-11-01

152

Prevalence of congenital malformations in the vicinity of nuclear plants: data from the Central-East France registry  

International Nuclear Information System (INIS)

To study the prevalence of malformations around the nuclear power plants in the Rhone-Alps region and compare it with their distribution in other parts of the region monitored by the registry. Methods: Municipalities with fewer than 50,000 inhabitants surrounding the 5 nuclear plants in operation from 1979 through 2002 were studied. Every municipality situated near a nuclear site (n=121) was assigned an exposure index, which we estimated from the distance between the municipality and the plant. A Poisson model and a reference population, defined as the 2154 municipalities in the region situated farther than 10 km from a nuclear plant were used to calculate relative risks for congenital malformations, after adjustment for year of birth, maternal age, district of birth, population density, average family income, and presence of chemical plants subject to E U Seveso regulations. Results: Significant differences were not observed for either gene/chromosome anomalies (p=0.50) or minor malformations (p=0.14). Risks for overall malformations and those defined as major non-syndromic appear to be reduced in areas less than 5 km from nuclear plants (RR=0.75 and RR=0.71, respectively). The only comparison showing a higher rate of malformations in populations living near nuclear sites involved rural communities situated 5 to 10 km from a plant (RR=1.41 for the major non-syndromic malformations and 1.31 for all malformations). Conclusion: These results may be random or may be explained by exposure to the plants, but a more likely explanation is the existence of confounding factors for which we could not adjust, such as road traffic for urban communities and pesticides in rural ones. (author)

2005-01-01

153

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  

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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 ...

Ignacio Zarante; Liliana Franco; Catalina López; Nicolás Fernández

2010-01-01

154

Perinatal outcome and congenital malformations in in-vitro fertilization babies from the Bourn-Hallam group.  

Science.gov (United States)

The perinatal outcome and congenital malformations in children born between 1978 and 1987 in Great Britain after in-vitro fertilization (IVF) at Bourn Hall Clinic and the Hallam Medical Centre are presented. The average maternal age was 34.2 years. Multiple births were frequent, constituting 23% of all deliveries; 19% were twins and 4% triplets. There were no quadruplet or higher order multiple births during that period. Twenty-five per cent of all deliveries were preterm. The mean birth weight was 2793 g and was strongly related to multiplicity of pregnancy and gestational age. Overall, 32% of babies had a low birthweight (less than 2500 g) with 6% having a very low birthweight (less than 1500 g). The overall stillbirth and infant mortality rates were two to three times higher than those of infants born after natural conception in England and Wales; this is attributed to the high incidence of multiple births. The stillbirth rates were 5.07, 20.8 and 24.7 per thousand total births in singletons, twins and triplets respectively. The corresponding figures for perinatal mortality were 13.5, 38.2 and 37 per thousand. Overall, 2.5% of the babies had one or more major congenital malformations diagnosed within one week of life. This was within the range of expected values in the United Kingdom and there was no significant increase in any specific malformation. PMID:1752928

Rizk, B; Doyle, P; Tan, S L; Rainsbury, P; Betts, J; Brinsden, P; Edwards, R

1991-10-01

155

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

2002-01-01

156

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.

157

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  

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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

158

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

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

2010-01-01

159

Double orifice mitral valve in an asymptomatic adult with an unusual combination of congenital malformations: a case report.  

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We report a case of an asymptomatic adult patient, with several congenital malformations including an infrequent variant of double orifice mitral valve, postductal aortic coarctation, bicuspid aortic valve and an aneurysm of the right Valsalva sinus. The loss of support of the right coronary cusp of the aortic valve caused major aortic regurgitation. With the exception of the mitral valve, which was left untouched because it was neither stenotic nor regurgitant, all the other abnormalities were successfully corrected, in a two-step surgical approach. PMID:15116458

Proença, Gonçalo; Freitas, António; Baptista, Sérgio; Thomas, Boban; Fragata, José; Ferreira, Rafael

2004-02-01

160

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

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

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

2004-01-01

 
 
 
 
161

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

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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, t...

2012-01-01

162

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

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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.)

2003-11-01

163

Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus).  

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Partial or complete absence of the thymus (DiGeorge syndrome, III-IV pharyngeal pouch syndrome) is often associated with agenesis or hypoplasia of the parathyroid glands and, almost invariably, with cardiovascular malformations. The clinical and pathologcial findings in 10 cases proven at necropsy are presented. All patients presented with cardiac symptoms and signs in the first weeks of life and, with one exception, all died of a cardiac cause. Major cardiovascular malformations were found i...

Moerman, P.; Goddeeris, P.; Lauwerijns, J.; Hauwaert, L. G.

1980-01-01

164

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

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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

165

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

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

Hylas Paiva da Costa Ferreira

2010-04-01

166

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

Scientific Electronic Library Online (English)

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

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

167

Induction of congenital malformations in the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages  

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The induction of congenital malformations among the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages has been studied in two experiments. Firstly, animals were exposed to varying doses of X-rays and mated at various time intervals, so as to sample spermatozoa, spermatids and spermatogonial stem cells. In the second experiment, only treated spermatogonial stem cells were sampled. One group of males was given a single dose, a second group a fractionated dose and a third group was left unexposed. In the first experiment, induced post-implantation dominant lethality increased with dose, and was highest in week 3, in line with the known greater radiosensitivity of the early spermatid stage. Preimplantation loss also increased with dose and was highest in week 3. There was no clear induction of either pre-implantation or post-implantation loss at spermatogonial stem cell stages. There was a clear induction of congenital malformations at post-meiotic stages. At the two highest doses the early spermatids (15-21 days) appeared more sensitive than spermatozoa, and at this stage the incidence of malformations increased with dose. Expt. 2 showed a statistically significant induction of malformations at both dose levels. The relative sensitivities of male stem cells, post-meiotic stages and mature oocytes to the induction of congenital malformations were reasonably similar to their sensitivities for specific-locus mutations, except that the expected enhancing effect of the fractionation regime used was not seen.

Kirk, K.M.; Lyon, M.F. (Medical Research Council, Harwell (UK). Radiobiological Research Unit)

1984-01-01

168

Induction of congenital malformations in the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages  

International Nuclear Information System (INIS)

The induction of congenital malformations among the offspring of male mice treated with X-rays at pre-meiotic and post-meiotic stages has been studied in two experiments. Firstly, animals were exposed to varying doses of X-rays and mated at various time intervals, so as to sample spermatozoa, spermatids and spermatogonial stem cells. In the second experiment, only treated spermatogonial stem cells were sampled. One group of males was given a single dose, a second group a fractionated dose and a third group was left unexposed. In the first experiment, induced post-implantation dominant lethality increased with dose, and was highest in week 3, in line with the known greater radiosensitivity of the early spermatid stage. Preimplantation loss also increased with dose and was highest in week 3. There was no clear induction of either pre-implantation or post-implantation loss at spermatogonial stem cell stages. There was a clear induction of congenital malformations at post-meiotic stages. At the two highest doses the early spermatids (15-21 days) appeared more sensitive than spermatozoa, and at this stage the incidence of malformations increased with dose. Expt. 2 showed a statistically significant induction of malformations at both dose levels. The relative sensitivities of male stem cells, post-meiotic stages and mature oocytes to the induction of congenital malformations were reasonably similar to their sensitivities for specific-locus mutations, except that the expected enhancing effect of the fractionation regime used was not seen. (Auth.)

1984-01-01

169

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  

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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

170

STUDY ABOUT INCIDENCE OF CONGENITAL BONY ABNORMALITIES IN A POPULATION WITH MENTAL DEFICIENCY  

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Full Text Available This study is about the incidence of congenital bony abnormalities in a population with mental deficiency. Is known that genetic disorders cause mental disorders and malformative disorders, including bony abnormalities. The most often observed congenital abnormalities are:congenital hip sprain, flat foot, club foot, equin foot and congenital vertebral column disorders. We studied 596 children interned in in Neurology and Psychiatry Clinical Hospital of Oradea between 1999 and 2001 period. In 596 children, 393 presented different types of mental deficiency. We observed that most common bony disorders in this population are congenital hip sprain, vertebral column abnormalities and club foot.

Ioana Mihaela Tomulescu

2003-01-01

171

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

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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

172

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

International Nuclear Information System (INIS)

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.)

2012-05-01

173

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

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

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

2012-05-15

174

Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case.  

Science.gov (United States)

An 8-year-old male presented with a cystic lung lesion in the left lower lobe, which was initially detected during surgery for a spontaneous rupture of the sigmoid colon at the age of 6 years. Tissue fragility and a tendency to bleed easily were noted during the surgery, which strongly suggested vascular Ehlers-Danlos syndrome. Although there was no abnormality in the hemostasis screening test, or any suspicious hereditary problem in his pedigree, genetic gene testing for vascular Ehlers-Danlos syndrome was recommended, and showed a de novo mutation in the COL3A1 gene. This report presents the case of patient with occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of lung, in addition to a duplicated infrarenal vena cava. PMID:23052746

Sa, Young Jo; Kim, Young Du; Moon, Seok-Whan; Kim, Chi-Kyung; Ki, Chang Seok

2013-12-01

175

Congenital stridor in the context of Chiari malformation type II: the etiological role of vernix caseosa granulomatous meningitis.  

Science.gov (United States)

The authors describe the case of a late preterm infant girl who presented prenatally with a low lumbar neural tube defect and features of Chiari malformation type II (CM-II). At birth, she exhibited stridor and underwent surgical repair of a lumbosacral myelomeningocele on Day 2 of life. The prognosis was deemed to be poor, and hence a "Chiari decompression" procedure was not undertaken. The patient was subsequently extubated and died on Day 10. Postmortem findings included a rarely described but characteristic granulomatous meningitic reaction to vernix caseosa, which presumably entered the subarachnoid space and spinal cord syrinx antenatally via the open neural tube defect. The significance of congenital stridor in the context of CM-II and in particular the role of vernix caseosa granulomatous meningitis are examined. The antenatal repair of myelomeningoceles, as championed by some, may prevent this ominous meningitic complication. PMID:21961543

Stritzke, Amelie I; Dunham, Christopher P; Smyth, John A; Steinbok, Paul

2011-10-01

176

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

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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

177

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

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

Alfredo Aguila R

2000-02-01

178

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

Scientific Electronic Library Online (English)

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

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

179

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

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Full Text Available Premature ovarian failure (POF, that is, amenorrhea before 40 years of age can be attributed to a variety of etiologies. Approximately 1% of women before 30 years are diagnosed with POF. Spontaneous ovulation leading to pregnancy in POF is even a rarer entity. We report a case where congenital malformations were diagnosed in a fetus following spontaneous ovulation in a case of POF. A 33-year-old woman presented to our center with primary infertility. On complete work up, she was diagnosed with POF and conceived with hormone replacement therapy and donor oocyte program. She delivered a healthy female baby through caesarean section. The patient reviewed later with amenorrhea of 40 days and pregnancy was confirmed. However, during antenatal follow-up congenital anomalies in fetus were diagnosed sonographically. The decision for termination of pregnancy was taken. To conclude, we recommend large-scale retrospective analysis that would define medical guidelines in cases of pregnancy following spontaneous ovulation in POF.

Selvaraj Priya

2010-01-01

180

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

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

Sountoulides P

2008-05-01

 
 
 
 
181

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.

182

Scintigraphic detection of congenital intracranial vascular malformations. [/sup 99m/Tc tracer technique  

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Nine children with arteriovenous malformations (AVMs), and a tenth with a cerebral aneurysm, had computer-processed dynamic scintigraphy with static scintigrams, transmission computed tomography (CT) both with and without contrast injection, and radiopaque cerebral angiography. All ten lesions were detected by dynamic scintigraphy and angiography, whereas two AVMs were missed on CT scans and the aneurysm and two AVMs (one missed by CT) were not identified on static scintigrams. Time-activity curves generated from regions of interest placed over the cerebral hemispheres, AVMs and/or various venous structures permitted, respectively, estimation of interhemispheric partition of perfusion, estimation of the fraction of total cerebral hemispheric perfusion preferentially directed into a malformation, and indication of the route of venous drainage from the lesions. While dynamic scintigraphy and CT scanning both identified the aneurysm, scintigraphy was the most effective screening test for detecting AVMs owing to its accuracy, lower cost, and lack of required anesthesia, heavy sedation or iodinated contrast agents.

Gates, G.F.; Fishman, L.S.; Segall, H.D.

1978-03-01

183

Multimodality, anatomical, and diffusion-weighted fetal imaging of a spontaneously thrombosing congenital dural sinus malformation.  

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We report on the conventional and diffusion-weighted (DWI) magnetic resonance imaging (MRI) findings of a partially thrombosed torcular Herophili dural sinus malformation. DWI confirmed the intralesional partial thrombosis/blood clot characterized by restricted diffusion. In addition, focal or global intracerebral complications were excluded by fetal DWI. Our findings suggest that DWI is a valuable adjunct to the standard T1- and T2-weighted fetal MRI sequences. PMID:22926756

Ebert, Mark; Esenkaya, Asim; Huisman, Thierry A G M; Bienstock, Jessica; Kalayci, Tugce Ozlem; Poretti, Andrea; Tekes, Aylin

2012-10-01

184

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)

2005-01-01

185

Congenital heart malformations in the first year of life--a necropsy study.  

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The hearts of 291 babies with congenital heart disease who died before the age of one were examined systematically by sequential segmental analysis to determine the lesions that were present. There was an abnormal connection between the cardiac segments in one third of cases. Patient ductus arteriosus, which is usually a common defect, was not an important finding at necropsy, whereas common arterial trunk (a rare defect) was found in 10%. The clinical and necropsy incidence of complete trans...

1985-01-01

186

Mercury pollution and congenital malformations detected at birth in Porto Velho, Brazil, from 1997 to 2007 Contaminación por mercurio y las malformaciones congénitas detectadas en el nacimiento en Porto Velho, Brasil, entre 1997 y 2007  

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The possible negative impacts of mercury contamination in the Madeira river, State of Rondonia, Brazil, on newborn babies health were evaluated. The incidence of congenital malformations was surveyed from the records of newborns in the main hospital of Porto Velho, Rondonia, from 1997 to 2007. The type of malformations between local population and cases transferred from other areas in Rondonia were compared. Neurological related malformations were found in 45% of the cases. The proportion of ...

Julio Cesar da Rocha; Maior, Rafael S.; Carlos Tomaz

2011-01-01

187

Gross hematuria caused by a congenital intrarenal arteriovenous malformation: a case report  

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Full Text Available Abstract Introduction We report the case of a woman who presented with gross hematuria and was treated with a percutaneous embolization. Case presentation A 48-year-old Caucasian woman presented with gross hematuria, left flank pain, and clot retention. The patient had no history of renal trauma, hypertension, urolithiasis, or recent medical intervention with percutaneous instrumentation. The patient did not report any bleeding disorder and was not taking any medication. Her systolic and diastolic blood pressure values were normal at presentation. The patient had anemia (8 mg/dL and tachycardia (110 bpm. She underwent color and spectral Doppler sonography, multi-slice computed tomography, and angiography of the kidneys, which showed a renal arteriovenous malformation pole on top of the left kidney. Conclusions The feeding artery of the arteriovenous malformation was selectively embolized with a microcatheter introduced using a right transfemoral approach. By using this technique, we stopped the bleeding, preserved renal parenchymal function, and relieved the patient's symptoms. The hemodynamic effects associated with the abnormality were also corrected.

Mariani Davide

2011-10-01

188

Combined use of selective serotonin reuptake inhibitors and sedatives/hypnotics during pregnancy : risk of relatively severe congenital malformations or cardiac defects. A register study  

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Objectives To investigate the proposed synergistic teratogenic effect of use of selective serotonin receptor inhibitors (SSRI) together with sedatives or hypnotics, primarily benzodiazepines, during pregnancy. Design Cohort study of congenital malformations after maternal use of SSRI, sedatives/hypnotics or the combination of the two drug categories. Setting Swedish national health registers. Participants A total of 10?511 infants born of women who had used SSRI drugs but no other central n...

Reis, Margareta; Kallen, Bengt

2013-01-01

189

Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation  

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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 tran...

Pasutto, Francesca; Sticht, Heinrich; Hammersen, Gerhard; Gillessen-kaesbach, Gabriele; Fitzpatrick, David R.; Nu?rnberg, Gudrun; Brasch, Frank; Schirmer-zimmermann, Heidemarie; Tolmie, John L.; Chitayat, David; Houge, Gunnar; Ferna?ndez-marti?nez, Lorena; Keating, Sarah; Mortier, Geert; Hennekam, Raoul C. M.

2007-01-01

190

Congenital malformations and infant mortality from the Chernobyl reactor accident; Angeborene Fehlbildungen und Saeuglingssterblichkeit nach dem Reaktorunfall in Tschernobyl  

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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.) [Deutsch] Der vorliegende Bericht beschaeftigt sich mit den Folgen der Strahlenexposition in Bayern nach dem Reaktorunfall in Tschernobyl. Es wurde der Frage nachgegangen, ob eine Zunahme negativer gesundheitlicher Wirkungen in hoeher exponierten Bevoelkerungsgruppen im Vergleich zu niedriger exponierten feststellbar war. Der Expositionsstatus wurde nach der Bodenkontamination des Wohnortes bestimmt. Entsprechend der unterschiedlichen Hoehe des Radiocaesium-Gehaltes in Bodenproben wurde die Bevoelkerung der drei suedlichen bayerischen Regierungsbezirke `Oberbayern`, `Niederbayern` und `Schwaben` (Suedbayern) als hoeher und die Bevoelkerung der vier noerdlichen Regierungsbezirke `Oberpfalz`, `Oberfanken`, `Mittelfranken` und `Unterfranken` (Nordbayern) als niedriger exponiert definiert. Als Indikatoren fuer gesundheitliche Wirkungen wurden Veraenderungen der Geburtspraevalenz von Kindern mit ausgewaehlten angeborenen Fehlbildungen sowie Veraenderungen in den Raten der perinatalen Mortalitaet und der Gesamtsterblichkeit bis Ende des ersten Lebensjahres betrachtet. Die Festlegung der Untersuchungszeitraeume trug der zeitlichen Beziehung zwischen Konzeption bzw. Organbildungsphase und dem Zeitraum der hoechsten radioaktiven Exposition in den ersten beiden Maiwochen der Jahres 1986 Rechnung. Fuer die statistische Analyse wurde ein Ansatz gewaehlt, der eine Kombination aus einem rein raeumlichen und einem rein zeitlichen Vergleich darstellt. Die Analyse der Daten ergab: Die Geburtspraevalenz von Kindern mit angeborenen Fehlbildungen war in keiner der betrachteten diagnosespezifischen Fehlbildungsgruppen nach dem Unfall in Tschernobyl in Sued- gegenueber Nordbayern signifikant erhoeht. Auch zeigte sich weder in Suedbayern noch in Nordbayern fuer perinatale oder Gesamtsterblichkeit nach dem Unfall eine statistisch signifikante Erhoehung der beobachteten gegenueber den erwarteten Fallzahlen.

Schoetzau, A.; Santen, F. van; Irl, C.; Grosche, B.

1994-12-01

191

Congenital partial arhinia: a rare malformation of the nose coexisting with holoprosencephaly.  

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Complete or partial arhinia is a rare defect of embryogenesis characterized by congenital absence of the soft tissue of the nose and nasal structures. It is generally associated with other craniofacial or somatic anomalies, including midline defects such as cleft palate, highly arched palate, absence of paranasal sinuses, and palatal and ocular abnormalities. Less than 40 patients with arhinia have been reported so far[],[]. We report herein on a patient with partial arhinia and holoprosencephaly presenting with respiratory insufficiency and diabetes insipidus. PMID:23692731

Takc?, Sahin; Korkmaz, Ay?e; Sim?ek-Kiper, Pelin Ozlem; Utine, Gülen Eda; Boduro?lu, Koray; Yurdakök, Murat

2012-01-01

192

Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for congenital cystic adenomatoid malformation of the lung  

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Full Text Available Abstract Background Spontaneous monochorionic triamniotic pregnancy is rare and is at increased risk for pregnancy complications. The presence of an anomalous fetus further complicates the management. Case presentation We present a case of monochorionic triamniotic triplet pregnancy diagnosed at 15 weeks of gestation with one fetus having developed a multicystic lung lesion, suggestive of congenital cystic adenomatoid malformation (CCAM. At 24 weeks, the largest cyst measured 10 mm in diameter. We managed the pregnancy conservatively and delivered three live male fetuses with birth weights 1560 g, 1580 g and 1590 g at 35 weeks of gestation. Two newborns were admitted to the neonatal intensive care unit with respiratory distress, the third one died due to sepsis 7 days postpartum. One of the newborns was discharged healthy at 24 days postpartum. The newborn with CCAM developed a pneumothorax on the right side, recovered after treatment, and was discharged after one month. Computerized tomography (CT of the infant at 3 months demonstrated two cystic lesions in the middle lobe of the right lung measuring 25 mm and 15 mm. A repeat CT of the infant at 6 months showed a 30 mm solitary cystic mass. Conclusion Monochorionic triamniotic triplet pregnancy with a co-triplet fetus discordant for CCAM, present rarely and can be managed conservatively. These findings may help in decision making and counselling of parents.

Ceylan Yavuz

2005-04-01

193

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

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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

194

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

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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

195

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

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Full Text Available 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

196

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

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Full Text Available 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 <0.05. The slope is positive among children born alive, with an annual rate increase of 0.071. Among stillbirths, the slope is -0.47 per 1000 born alive. Sixty two percent of malformed children were female. Among children with neural tube defects, 30% had a malformed relative and, of these, 66% had the same malformation. Conclusions: Family clustering of neural tube defects, supports the influence of a genetic factor influencing their appearance (Rev Méd Chile 2001; 129: 1163-70

Julio Nazer H

2001-10-01

197

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

Science.gov (United States)

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

Sykes, Jonathan M; Nolen, David

2014-04-01

198

Genetic monitoring of the human population from high-level natural radiation areas of Kerala on the southwest coast of India. I. Prevalence of congenital malformations in newborns.  

Science.gov (United States)

In the densely populated monazite-bearing sands of Kerala, on the southwest coast of India, natural radiation dose rates range from 1. 0 to over 35.0 mGy per year in certain well-defined high-level natural radiation areas. As a part of the program to assess the health effects of this naturally occurring high-level natural radiation on human populations, monitoring of newborns is being undertaken to determine the incidence of congenital malformations. From August 1995 to December 1998, a total of 36,805 newborns were screened, including 212 (0.58%) stillbirths. There were 36,263 singletons, 536 (1.45%) twins, and 6 born as triplets. The overall incidence of malformations was 1.46% and was dependent on maternal age. The stillborns exhibited a very high malformation rate of 20.75% compared to 1.35% among the live births. Likewise, twins also had a higher malformation rate (2.99%) compared to singletons (1.44%). About 3.5% of the newborns originated from consanguineous marriages. Consanguinity also led to a relatively higher rate of malformations (1.97%) as well as of stillbirths (1.18%). About 92% of the deliveries took place by the maternal age of 29 years and only 1.2% among women above 34 years old. The stratification of newborns with malformations, stillbirths or twinning showed no correlation with the natural radiation levels in the different areas. Thus no significant differences were observed in any of the reproductive parameters between the two population groups based on the monitoring of 26,151 newborns from high-level natural radiation and 10,654 from normal-level natural radiation (dose rate Kerala coast. PMID:10564958

Jaikrishan, G; Andrews, V J; Thampi, M V; Koya, P K; Rajan, V K; Chauhan, P S

1999-12-01

199

METHANOL EXPOSURE DURING GASTRULATION CAUSES HOLOPROSENCEPHALY, FACIAL DYSGENESIS AND CERVICAL VERTEBRAL MALFORMATIONS IN C57BL/6J MICE  

Science.gov (United States)

Exposure of pregnant CD-1 mice to methanol during the period of gastrulation results in exencephaly, cleft palate, and cervical vertebra malformations (Rogers and Mole, 1997, Teratology 55, 364). C57BL/6J mice are sensitive to the teratogenicity of ethanol; fetuses of this strai...

200

Contracted foal syndrome associated with multiple malformations in two foals.  

Science.gov (United States)

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

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

2014-02-01

 
 
 
 
201

Echocardiography and imaging investigation in congenital cardiovascular anomalies - competition or complementarity? Part II: cyanogenic cardiovascular malformations. Pictorial essay.  

Science.gov (United States)

The diagnosis of cardiovascular malformations (CVM) is based on the echocardiographic evaluation. Multidetector computed tomography (MDCT) and magnetic resonance imaging (MRI) are performant, necessary techniques for the pre- and postoperative assessment of complex malformations, especially of cyanogenic malformations, in which anomalies of the right side of the heart and of the pulmonary circulation are involved and where echocardiography has a limited role. The complementarity of echocardiography with MDCT and MRI for the acquisition of the details necessary for an accurate therapeutic decision and for avoiding invasive exploration, as well as the close relationship between the radiologist and the clinician are crucial and all the more necessary in complex malformations. PMID:23486625

Manole, Simona; Opri?a, Simona; Encica, Svetlana; Cotul, Mircea; Chira, Manuel; Manole, Viorel; Iacob, Daniela; Dudea, Sorin M

2013-03-01

202

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

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

Cláudia Maria da Silva Costa

2006-11-01

203

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

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Full Text Available 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.

204

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

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Full Text Available 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.

205

Malformaciones congénitas anorrectales y sus asociaciones preferentes. Experiencia del Hospital Clínico de la Universidad de Chile. Período 1979-1999 Anorectal congenital malformations and their associations in a Chilean university Hospital between 1979 and 1999  

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Full Text Available Background: Anorectal atresia is a relatively frequent malformation in the newborn. According to the Latin American Collaborative Study for Congenital Malformations (ECLAMC, its frequency is 4.1 per 10,000 born alive. Aim: To determine the frequency of anorectal malformations at birth, and compare the figures with those of other maternity hospitals in Chile participating in ECLAMC, with the figures of the whole ECLAMC and with figures from other worldwide monitoring systems. Patients and methods: All births occurred in the University of Chile Clinical Hospital between January 1979 and August 1999, were reviewed. Results: During the study period, 70,242 children were born, 4,486 had a malformation and 54 had an anorectal malformation (7.7 per 10,000 born alive. Fifty nine percent had other associated malformations (of the urinary tract in 42.5%, skeletal in 26% and cardiovascular in 18.5%. Five stillborn babies had other severe malformations. Twenty one children had a fistula. Forty three % were male, 39% female and 18% had ambiguous sex. When compared with normal controls, malformed newborns had a lower birth weight, lower gestational age and a higher mean maternal age, a higher frequency of metrorrhagia during the first trimester of pregnancy, a higher number of siblings with malformations and a higher degree of consanguinity among parents. Conclusions: The participation of recessive genes in the etiology of anorectal malformations is suggested. (Rev Méd Chile 2000; 128: 519-25

Julio Nazer H

2000-05-01

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

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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

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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  

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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.

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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

209

Aortic arch malformations  

International Nuclear Information System (INIS)

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

2010-06-01

210

Aortic arch malformations  

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

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

2010-06-15

211

Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain.  

Science.gov (United States)

Congenital malformations of the human hindbrain, including the cerebellum, are poorly understood largely because their recognition is a relatively recent advance for imaging diagnostics. Cerebellar malformations are the most obvious and best characterized hindbrain malformations due to their relative ease of viewing by magnetic resonance imaging and the recent identification of several causative genes (Millen et al. Curr Opin Neurobiol 18:12-19, 2008). Malformations of the pons and medulla have also been described both in isolation and in association with cerebellar malformations (Barkovich et al. Ann Neurol 62:625-639, 2007). Although little is understood regarding the specific developmental pathologies underlying hindbrain malformations in humans, much is known regarding the mechanisms and genes driving hindbrain development in vertebrate model organisms. Thus, studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to provide information regarding disrupted developmental processes and candidate genes. Here, we survey the basic principles of vertebrate hindbrain development and integrate our current knowledge of human hindbrain malformations into this framework. PMID:19778712

Aldinger, Kimberly A; Elsen, Gina E; Prince, Victoria E; Millen, Kathleen J

2009-09-01

212

Congenital Vascular Malformation  

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... or the remnants of them, can be greatly improved in appearance by plastic surgery, but this is ... be studied by magnetic resonance imaging (MRI) which images in multiple planes (view ... used for compression of the large veins. After careful evaluation, surgery ...

213

Reconstruction of middle ear malformations  

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Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid ...

Schwager, K.

2008-01-01

214

Reconstruction of middle ear malformations  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Malformations of the middle ear are classified as minor and major malformations. Minor malformations appear with regular external auditory canal, tympanic membrane and aerated middle ear space. The conducting hearing loss is due to fixation or interruption of the ossicular chain. The treatment is surgical, following the rules of ossiculoplasty and stapes surgery. In major malformations (congenital aural atresia) there is no external auditory canal and a deformed or missing pinna. The mastoid ...

Schwager, Konrad

2007-01-01

215

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

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

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

216

Segmentation of the vertebrate spine: from clock to scoliosis  

Science.gov (United States)

The body axis of vertebrates is composed of a serial repetition of similar anatomical modules, termed segments or metameres. This particular mode of organization is especially conspicuous at the level of the periodic arrangement of vertebrae in the spine. The segmental pattern is established during embryogenesis when the somites, the embryonic segments of vertebrates, are rhythmically produced from the paraxial mesoderm. This process involves the segmentation clock, a traveling oscillator that interacts with a maturation wave called the wavefront to produce the periodic series of somites. Recent studies have shed light on several aspects of the segmentation mechanism and provide a conceptual framework to explain human spine malformations, such as congenital scoliosis.

Pourquie, Olivier

2011-01-01

217

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 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)

Taucher S, Erica; Icaza N, Gloria.

218

Associated malformations in patients with limb reduction deficiencies.  

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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

219

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  

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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.

220

Timing Embryo Segmentation: Dynamics and Regulatory Mechanisms of the Vertebrate Segmentation Clock  

Science.gov (United States)

All vertebrate species present a segmented body, easily observed in the vertebrate column and its associated components, which provides a high degree of motility to the adult body and efficient protection of the internal organs. The sequential formation of the segmented precursors of the vertebral column during embryonic development, the somites, is governed by an oscillating genetic network, the somitogenesis molecular clock. Herein, we provide an overview of the molecular clock operating during somite formation and its underlying molecular regulatory mechanisms. Human congenital vertebral malformations have been associated with perturbations in these oscillatory mechanisms. Thus, a better comprehension of the molecular mechanisms regulating somite formation is required in order to fully understand the origin of human skeletal malformations.

Resende, Tatiana P.; Andrade, Raquel P.; Palmeirim, Isabel

2014-01-01

 
 
 
 
221

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

222

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13.  

Science.gov (United States)

A 2 ½-year-old girl with multiple congenital anomalies and a de novo 5.6-Mb deletion on chromosome 13q12.11-13q12.13 is reported. She showed choanal atresia, scalp aplasia cutis, mild dysmorphic features, severe malformation of the hands and feet, Sylvian aqueductal stenosis, hydrocephalus, small cerebellum with pointed cerebellar tonsils, cervical, lumbar and sacral clefting, single central incisor and mild developmental delay. The girl's anomalies were compared with: (A) one boy reported by each of Der Kaloustian et al. [2011] and Tanteles et al. [2011] with similar, albeit smaller, 2.1 to 2.9?Mb deletions in which the abnormalities consisted of mild facial dysmorphism, mild malformations of the fingers and/or toes, and developmental delay; (B) one girl reported by Friedman et al. [2006] with similar, albeit larger, 5.7?Mb deletion with mild developmental delay and haematological abnormalities; (C) one girl reported by Slee et al. [1991] with a deletion of band q12.2 in chromosome 13, who had Moebius syndrome with facial dysmorphism, high arched palate, micrognathia, and small tongue with no abnormalities of the extremities; and (D) seven additional individuals recorded in the DECIPHER 6.0 database who all had dysmorphic features and developmental delay plus a spectrum of clinical manifestations including deafness, ataxia/oculomotor apraxia, spasticity, small testes, and mild fingers' anomalies. The deleted region hereby reported encompassed 34 known genes, including GJA3, GJB2, and GJB6, which are responsible for autosomal recessive deafness, FGF9, which plays crucial roles in embryonic neurological development, and ATP8A2, which causes a cerebellar ataxia and disequilibrium syndrome. © 2014 Wiley Periodicals, Inc. PMID:24807585

Pavone, Piero; Briuglia, Silvana; Falsaperla, Raffaele; Warm, Amiel; Pavone, Vito; Bernardini, Laura; Novelli, Antonio; Praticò, Andrea D; Salpietro, Vincenzo; Ruggieri, Martino

2014-07-01

223

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  

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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

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

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

Abdulhamid Ibrahim; Saadeh Sermin; Cakan Nedim

2009-01-01

225

Echocardiography and imaging investigation in congenital cardio-vascular anomalies - competition or complementarity? Part I: non-cyanogenic cardiovascular malformations.  

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Echocardiography is the first technique used for diagnosing cardiovascular malformations (CVM). The results are often completed with multi-detector computer tomography (MDCT) and/or magnetic resonance imaging (MRI) for confirming/ invalidating an abnormal pulmonary venous return in the case of atrial septal defect (ASD) or for the exact interpretation of cardiac function in pre/post-surgery cases with ASD, ventricular septal defect (VSD), and Fallot tetralogy. MDCT and MRI play an important role in the precise and complete diagnosis of Fallot tetralogy, in the anomalies of the right heart cavities and the arterial and venous pulmonary tree, the anomalies of the emergence and course of the coronary arteries, aortic coarctation and developmental anomalies of the aortic arch and supraaortic trunks. The complementarity of echocardiography with MDCT and MRI, in order to obtain details and to avoid invasive procedures and also the cooperation between the pediatrician, cardiologist, surgeon and radiologist, represent the key to the diagnosis and treatment of cardiovascular malformations, for the benefit of the patient. PMID:23243647

Manole, Simona; Oprita, Simona; Encica, Svetlana; Cotul, Mircea; Chira, Manuel; Manole, Viorel; Iacob, Daniela; Dudea, Sorin M

2012-12-01

226

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  

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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.

227

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  

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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

228

Acute and long-term effects of infection by the respiratory syncytial virus in children with congenital cardiac malformations.  

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All newborn infants have limited pulmonary reserve compared with older children. This puts them at increased risk of respiratory complications, such as those associated with infection by the respiratory syncytial virus. Young children with congenital cardiac disease are particularly likely to suffer severe disease related to infection by the virus. In these children, the extreme vulnerability of the lung to pulmonary oedema is compounded by the additional burden caused by the respiratory syncytial virus. In addition to the well-documented acute pulmonary effects of infection with the respiratory syncytial virus, there may also be consequent long-term respiratory morbidity. Clinical studies have shown that infection by the virus in infancy is associated with a higher risk of developing subsequent bronchial obstructive disease. Much debate surrounds the mechanisms underlying this association. It is thought that a combined immunological and neurogenic response mechanism is likely. Prevention of severe respiratory disease in infants and young children with congenital heart disease due to infection by the virus may, therefore, offer both immediate and long-term benefits. Indeed, an increasing body of evidence supports this hypothesis, indicating a clinical rationale for prophylaxis against the virus in infancy, in order to reduce the chance of developing reactive airways disease and asthma in later life. PMID:15865828

Feltes, Timothy F; Groothuis, Jessie R

2005-06-01

229

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  

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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

2010-11-24

230

Mercury pollution and congenital malformations detected at birth in Porto Velho, Brazil, from 1997 to 2007 Contaminación por mercurio y las malformaciones congénitas detectadas en el nacimiento en Porto Velho, Brasil, entre 1997 y 2007  

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Full Text Available The possible negative impacts of mercury contamination in the Madeira river, State of Rondonia, Brazil, on newborn babies health were evaluated. The incidence of congenital malformations was surveyed from the records of newborns in the main hospital of Porto Velho, Rondonia, from 1997 to 2007. The type of malformations between local population and cases transferred from other areas in Rondonia were compared. Neurological related malformations were found in 45% of the cases. The proportion of neurological defects in the local population was slightly higher than in transferred cases. Non-neurological malformations represented 43% of the sample and, 11.4% were unspecified. The incidence of general (including non-neurological congenital malformations was similar to the region's average. This is indicative of Hg contamination during pregnancy. Salud UIS 2011; 43 (3: 237-240Los posibles impactos negativos de la contaminación por mercurio en el río Madeira, Estado de Rondonia, Brasil, en la salud de los bebés recién nacidos fueron evaluados. La incidencia de malformaciones congénitas fue examinado en los registros de los recién nacidos en el principal hospital de Porto Velho, Rondonia, de 1997 a 2007. El tipo de malformaciones entre la población local y los casos transferidos de otras zonas de Rondonia fueron comparados. Malformaciones neurológicas relacionadas se encontraron en el 45% de los casos. La proporción de defectos neurológicos en la población local fue levemente superior en los casos transferidos. Malformaciones non neurológicas representó el 43% de la muestra y, el 11,4% sin especificar. La incidencia de la general (incluyendo non neurológicas malformaciones congénitas fue similar al promedio de la región. Esto es indicativo de contaminación de mercurio durante el embarazo. Salud UIS 2011; 43 (3: 237-240

Julio Cesar da Rocha

2011-12-01

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Frequency of congenital craniofacial malformations in a Brazilian Reference Center / Frequência de malformações congênitas craniofaciais em um Centro de Referência Brasileiro  

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Full Text Available SciELO Brazil | Language: English Abstract in portuguese OBJETIVO: Avaliar a frequência de anomalias craniofaciais em pacientes assistidos em um Centro de Referência Brasileiro para deformidades craniofaciais. MÉTODO: Estudo retrospectivo epidemiológico avaliando os prontuários clínicos de 1.142 pacientes, sendo 656 (57,4%) do gênero masculino e 486 (42,6 [...] %) do feminino, entre os anos de 1992 e 2008. RESULTADOS: Entre os defeitos congênitos, fissura labial e/ou palatina não-sindrômica foi o mais frequente (778 casos; 68,1%), seguido por anomalias congênitas simples ou múltiplas sem fissura labial e/ou palatina (240 casos; 21%), síndromes ou sequências reconhecidas (56 casos; 5%), síndromes com fissura orofacial como um componente do quadro sindrômico (41 casos; 3,5%), e fissuras orofaciais em associação com malformações sistêmicas (27 casos; 2,4%). CONCLUSÕES: Observou-se que o defeito congênito identificado mais frequente foi a fissura labial e/ou palatina não-sindrômica, no entanto, anomalias isoladas e síndromes envolvendo as estruturas craniofaciais foram bastante encontradas. Além disso, ressalta-se a necessidade de estudos que identifiquem a frequência e os fatores de riscos associados às anomalias craniofaciais na população brasileira, a fim de que se planejem estratégias e ações integradas para o desenvolvimento de programas preventivos e de tratamento adequado. Abstract in english OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4%) male and 486 (42.6%) female, between 1992 and 20 [...] 08. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%), followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%), recognized syndromes or sequences (56 cases; 5%), syndromes with orofacial cleft as a component (41 cases; 3.5%), and orofacial clefts in association with systemic malformations (27 cases; 2.4%). CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.

Lívia Máris Ribeiro, Paranaíba; Roseli Teixeira de, Miranda; Leila Aparecida, Ribeiro; Letízia Monteiro de, Barros; Hercílio, Martelli-Júnior.

232

Frequency of congenital craniofacial malformations in a Brazilian Reference Center / Frequência de malformações congênitas craniofaciais em um Centro de Referência Brasileiro  

Scientific Electronic Library Online (English)

Full Text Available SciELO Public Health | Language: English Abstract in portuguese OBJETIVO: Avaliar a frequência de anomalias craniofaciais em pacientes assistidos em um Centro de Referência Brasileiro para deformidades craniofaciais. MÉTODO: Estudo retrospectivo epidemiológico avaliando os prontuários clínicos de 1.142 pacientes, sendo 656 (57,4%) do gênero masculino e 486 (42,6 [...] %) do feminino, entre os anos de 1992 e 2008. RESULTADOS: Entre os defeitos congênitos, fissura labial e/ou palatina não-sindrômica foi o mais frequente (778 casos; 68,1%), seguido por anomalias congênitas simples ou múltiplas sem fissura labial e/ou palatina (240 casos; 21%), síndromes ou sequências reconhecidas (56 casos; 5%), síndromes com fissura orofacial como um componente do quadro sindrômico (41 casos; 3,5%), e fissuras orofaciais em associação com malformações sistêmicas (27 casos; 2,4%). CONCLUSÕES: Observou-se que o defeito congênito identificado mais frequente foi a fissura labial e/ou palatina não-sindrômica, no entanto, anomalias isoladas e síndromes envolvendo as estruturas craniofaciais foram bastante encontradas. Além disso, ressalta-se a necessidade de estudos que identifiquem a frequência e os fatores de riscos associados às anomalias craniofaciais na população brasileira, a fim de que se planejem estratégias e ações integradas para o desenvolvimento de programas preventivos e de tratamento adequado. Abstract in english OBJECTIVE: To evaluate the frequency of craniofacial anomalies in patients treated at a Brazilian Reference Center for craniofacial deformities. METHOD: Retrospective epidemiological study evaluating the clinical records of 1,142 patients: 656 (57.4%) male and 486 (42.6%) female, between 1992 and 20 [...] 08. RESULTS: Among birth defects, non-syndromic cleft lip and/or palate were the most frequent ones (778 cases; 68.1%), followed by single or multiple congenital anomalies without cleft lip and/or palate (240 cases; 21%), recognized syndromes or sequences (56 cases; 5%), syndromes with orofacial cleft as a component (41 cases; 3.5%), and orofacial clefts in association with systemic malformations (27 cases; 2.4%). CONCLUSIONS: Non-syndromic cleft lip and/or palate was the congenital defect most frequently identified, although, isolated anomalies and syndromes involving craniofacial structures were quite frequent. Furthermore, the need for studies to identify the frequency and risk factors associated with craniofacial anomalies in the Brazilian population is emphasized in order to plan comprehensive strategies and integrated actions for the development of preventive programs and treatment.

Lívia Máris Ribeiro, Paranaíba; Roseli Teixeira de, Miranda; Leila Aparecida, Ribeiro; Letízia Monteiro de, Barros; Hercílio, Martelli-Júnior.

233

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  

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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.

234

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  

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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.

235

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

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Full Text Available 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 (USA, 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.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, compare 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

2012-12-01

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

Directory of Open Access Journals (Sweden)

Full Text Available 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 (USA, 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.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, compare 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

2012-01-01

237

No major role for periconceptional folic acid use and its interaction with the MTHFR C677T polymorphism in the etiology of congenital anorectal malformations.  

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Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prevention of ARM. Therefore, we investigated independent associations and interactions of maternal periconceptional folic acid supplement use and the infant and maternal MTHFR (methylenetetrahydrofolate reductase) C677T polymorphisms with the risk of ARM and subgroups of ARM. Methods: A case-control study was conducted among 371 nonsyndromic ARM cases and 714 population-based controls born between 1990 and 2012 using maternal questionnaires and DNA samples from mother and child. Cases were treated for ARM at departments of Pediatric Surgery of the Radboud university medical center, Sophia Children's Hospital-Erasmus MC Rotterdam, and the University Medical Center Groningen in The Netherlands and hospitals throughout Germany. Results: No association with folic acid use was present (odds ratio?=?1.1; 95% confidence interval: 0.8-1.4) for ARM as a group. Infant and maternal MTHFR C677T polymorphisms were weakly associated with isolated ARM in particular. Lack of folic acid supplement use in combination with infants or mothers carrying the MTHFR C677T polymorphism did not seem to increase the risk of ARM or subgroups of ARM. The relative excess risks due to interaction did not clearly indicate interaction on an additive scale either. Conclusion: This first study investigating interactions between periconceptional folic acid supplement use and infant and maternal MTHFR C677T polymorphisms in the etiology of ARM did not provide evidence for a role of this gene-environment interaction. Birth Defects Research (Part A) 100:483-492, 2014. © 2014 Wiley Periodicals, Inc. PMID:24841934

Wijers, Charlotte H W; de Blaauw, Ivo; Zwink, Nadine; Draaken, Markus; van der Zanden, Loes F M; Brunner, Han G; Brooks, Alice S; Hofstra, Robert M; Sloots, Cornelius E J; Broens, Paul M A; Wijnen, Marc H; Ludwig, Michael; Jenetzky, Ekkehart; Reutter, Heiko; Marcelis, Carlo L M; Roeleveld, Nel; van Rooij, Iris A L M

2014-06-01

238

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

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

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

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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  

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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.

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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  

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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.

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

 
 
 
 
241

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  

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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.

2014-01-01

242

Arteriovenous Malformation of the Oral Cavity  

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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 tumors. Lymphatic, capillary, venous, and arteriovenous malformations make up the majority of vascular malformations. Arteriovenous malformation of the head and neck is a rare vascular anomaly but when present is persistent and progressive in nature and can represent a lethal benign disease. Here we present a case report of a 25-year-old male patient with arteriovenous malformation involving the base of tongue.

Manjunath, S. M.; Shetty, Sujan; Moon, Ninad J.; Metta, Kiran Kumar; Gupta, Nitin; Goyal, Sandeep

2014-01-01

243

Brain Malformations  

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

244

Congenital vocal cord paralysis.  

Science.gov (United States)

Congenital stridor is rare. The most common presentation for congenital stridor is chronic loud breathing since birth. It is noticed in patients by the first 4 to 6 weeks of life. There are many causes of congenital stridor. Laryngomalacia is the most common cause of congenital stridor. Congenital vocal cord paralysis is the second most common cause of congenital stridor. Vocal cord paralysis in infants and children can be either congenital or acquired and either unilateral or bilateral. Although most commonly the paralysis is idiopathic, there are many causes of acquired vocal cord paralysis. Arnold-Chiari malformation is the most common congenital central nervous system abnormality resulting in vocal cord paralysis, and central nervous system abnormalities usually may cause bilateral vocal cord paralysis. In this article, we report 2 patients with idiopathic congenital vocal cord paralysis. One of them has the unilateral vocal cord paralysis, and the other, bilateral. PMID:20098198

Ada, Mehmet; Isildak, Huseyin; Saritzali, Gkioukxel

2010-01-01

245

Congenital patellar syndrome.  

Science.gov (United States)

Congenital patellar syndrome is bilateral isolated absence of patella. Congenital patellar aplasia or hypoplasia associated with genetic disorders belongs to a clinically diverse and genetically heterogeneous group of lower limb malformations. Absence of patella as an isolated anomaly is extremely rare and we discuss such a case in a 9-year-old boy. PMID:19434325

Jerome, J Terrence Jose; Varghese, M; Sankaran, B

2009-01-01

246

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.

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

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Full Text Available 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.

248

[Arteriovenous malformations].  

Science.gov (United States)

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

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

2010-04-01

249

Hypertension as a Presentation of Bilateral Intrarenal Arateriovenous Malformation  

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Full Text Available Congenital arteriovenous malformations are rare lesions of the kidneys. The first case of bilateral renal arteriovenous malformations was described in 1987. A case of extensive bilateral intrarenal arterivenous malformations presented to us as a case of hypertension. Renal angiography confirmed the diagnosis. Magnetic resonance angiography ruled out these malformations in cerebral circulation, and enhanced abdominal CT scan was normal. The blood pressure of the patient was controlled by medical therapy only.

El-Lozi Mohamed

1999-01-01

250

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.

251

Congenital malformations of the supratentorial brain. Pt. 1. Disorders of cortical development; Kongenitale Malformationen des Grosshirns. Teil 1: Entwicklungsstoerungen des Kortex  

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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.) [German] Entwicklungsstoerungen des Kortex werden in der Regel eingeteilt in Stoerungen der zellulaeren Proliferation und Apoptose, der neuronalen Migration und der kortikalen Organisation. Basierend auf neueren molekularbiologischen und histopathologischen Erkenntnissen wurde vor kurzem eine modifizierte Klassifikation eingefuehrt. Zu den Stoerungen der neuronalen und glialen Proliferation und Apoptose werden nun die Mikrolissenzephalie und andere Formen der Mikrozephalie, die Megalenzephalien, die kortikalen Hamartome der tuberoesen Sklerose, die kortikalen Dysplasien mit Ballonzellen und die Hemimegalenzephalie gezaehlt. Zu den neuronalen Migrationsstoerungen rechnet man das Spektrum der Lissenzephalien, einschliesslich der bandfoermigen Heterotopien, die Pflastersteinlissenzephalien sowie die Gruppe der Heterotopien. Unter Organisationsstoerungen des Kortex subsumiert man den Komplex aus Polymikrogyrie und Schizenzephalie sowie die kortikalen Dysplasien ohne Ballonzellen. Hoch aufloesende magnetresonanztomographische Untersuchungen erlauben in zunehmendem Masse einen Nachweis der kortikalen Entwicklungsstoerungen. Dieser Artikel soll die MR-tomographischen Charakteristika und relevanten klinischen Symptome der Entwicklungsstoerungen des Kortex illustrieren. (orig.)

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

2003-11-01

252

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  

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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-re...

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

2010-01-01

253

Atypical hemifacial microsomia associated with Chiari I malformation and syrinx: further evidence indicating that chiari I malformation is a disorder of the paraaxial mesoderm. Case report and review of the literature.  

Science.gov (United States)

The authors present the first known reported case of hemifacial microsomia associated with a Chiari I malformation and syrinx. A 14-year-old girl presented with progressive torticollis of 3 years' duration and headaches exacerbated by exercise. Computerized tomography scanning and magnetic resonance imaging revealed extensive craniofacial and vertebral abnormalities, including aplasia of the floor of the left middle fossa and posterior fossa cranium, articulation of the left mandibular condyle with the left temporal lobe, and progressive development of a Chiari I malformation with associated syringomyelia. The patient first underwent posterior fossa decompression, duraplasty, and occipitocervical fusion. This procedure was later followed by reconstruction of the floor of the left middle fossa and temporomandibular joint. The patient's outcome was excellent. In this case report the authors review the complex embryological development of craniofacial and craniovertebral structures, and emphasize the use of a staged approach to treat pathophysiological consequences of this congenital anomaly. PMID:11765819

Mesiwala, A H; Shaffrey, C I; Gruss, J S; Ellenbogen, R G

2001-12-01

254

Lissencephaly presenting with congenital hypothyroidism.  

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Lissencephaly is a rare brain malformation characterized by a smooth cerebral surface, thickened cortical mantle and microscopic evidence of incomplete neuronal migration. Association of congenital hypothyroidism with lissencephaly is seldom reported. We report a case of lissencephaly with congenital hypothyroidism. PMID:23751382

Kumar, Suresh; Suthar, Renu; Panigrahi, Inusha; Marwaha, Ram Kumar

2013-01-01

255

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  

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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

256

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  

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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.

257

Obstetric outcomes in women with mullerian duct malformations  

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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

258

Congenital absence of the portal vein associated with congenital hepatic fibrosis  

International Nuclear Information System (INIS)

The radiological features of a 7-year-old boy with congenital absence of the portal vein, pathologically proven congenital hepatic fibrosis, double inferior vena cava, ventricular septal defect, vertebral anomalies, crossed fused renal ectopia, and facial anomalies with pathological correlation are reported. This association between congenital absence of the portal vein and congenital hepatic fibrosis is unique. (orig.)

2007-09-01

259

Cerebral arteriovenous malformation in Noonan's syndrome.  

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Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild intel...

Schon, F.; Bowler, J.; Baraitser, M.

1992-01-01

260

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

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Full Text Available 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 cumplían 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.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 compare 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

2007-04-01

 
 
 
 
261

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 qu [...] e no cumplían 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 st [...] udy was to compare 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.

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

262

Dural arteriovenous malformations  

International Nuclear Information System (INIS)

The management of arteriovenous malformations confined exclusively to the dura and its duplications (DAVMs) is a challenge. The problems of diagnosis and the possible methods of treatment are discussed on the basis of 23 personal cases. Selective and superselective angiography for the detection of any multipedicular supply from separate arterial systems has proved essential before rational treatment can be instituted. Usually it is not possible to cure DAVMs by embolization alone: the approach now used for the main feeders arising from branches of the internal carotid and vertebral arteries is inadequate. However, it is usually possible to reduce the volume of the shunt flow and the pressure in the draining sinuses. Frequently the success is only temporary and a combined surgical and intravascular procedure is later necessary. In isolated cases, inoperable DAVMs can be transformed to operable ones by first performing embolization. (orig.)

1987-01-01

263

High Prevalence of Associated Birth Defects in Congenital Hypothyroidism  

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

Suresh V

2010-05-01

264

High Prevalence of Associated Birth Defects in Congenital Hypothyroidism  

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

Alok Sachan

2010-01-01

265

Vascular malformations in pediatrics  

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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.)

2003-11-01

266

[Malformations of the lower extremities].  

Science.gov (United States)

Malformations with deficiencies of the lower extremities are rare. They are usually caused by toxic influences during pregnancy between the 4th and the 12th week of gestation. Some malformations have a genetic origin. The total incidence of congenital deficiencies of the lower extremities is approximately 18 in 100,000 newborns. The most common deficiencies are fibular hemimelias, followed by congenital femoral deficiencies and tibial hemimelias. Hemimelias are often associated with deficient toes or ray defects. Congenital pseudarthrosis of the tibia is less common, but this diagnosis is underestimated in epidemiological studies in neonates, because the fracture usually only occurs at walking age. Other deficiencies such as bladder exstrophy with pelvic defects, split feet and defects in association with hereditary skeletal dysplasias (Apert syndrome, constriction band syndrome) are extremely rare. Various treatment options are available, including shoe elevation, orthotic or prosthetic devices, realignment osteotomy, arthrodesis, rotationplasty, amputation and surgical leg lengthening. Complex deformities should be treated by a team of specialists such as orthopedic surgeons, orthotists, physiotherapists, psychologists and possibly other surgeons too. PMID:18379756

Hefti, F

2008-04-01

267

Contribution of Rare Copy Number Variants to Isolated Human Malformations  

Science.gov (United States)

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n?=?7) or very uncommon (n?=?15, <1/2,000) in the control population] in 20/95 fetuses with congenital malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases.

Serra-Juhe, Clara; Rodriguez-Santiago, Benjamin; Cusco, Ivon; Vendrell, Teresa; Camats, Nuria; Toran, Nuria; Perez-Jurado, Luis A.

2012-01-01

268

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)

1980-01-01

269

[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

270

Asymmetric crying facies and congenital hypothyroidism: report of two patients.  

Science.gov (United States)

A congenital asymmetric crying facies (ACT) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. It is also well known that congenital hypothyroidism may be associated with other congenital malformations, especially with cardiac defects. Two newborn infants who had ACF associated with congenital heart defect and congenital hypothyroidism are described. To the best of our knowledge the association of ACF and congenital hypothyroidism has not previously been published. PMID:11592580

Kurto?lu, S; Caksen, H; Per, H; Narin, N; Uzüm, K

2001-01-01

271

Reconstruction of middle ear malformations  

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

Schwager, Konrad

2007-01-01

272

Vertebral morphometry.  

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Visual semiquantitative (SQ) assessment of the radiographs by a trained and experienced observer is the "gold standard" method to detect vertebral fractures. Vertebral morphometry is a quantitative method to identify osteoporotic vertebral fractures based on the measurement of vertebral heights. Vertebral morphometry may be performed on conventional spinal radiographs (MRX: morphometric x-ray radiography) or on images obtained from dual x-ray absorptiometry (DXA) scans (MXA: morphometric x-ray absorptiometry). Vertebral fracture assessment (VFA) indicates the method for identification of the vertebral fractures using lateral spine views acquired by DXA, with low-dose exposition. For epidemiologic studies and clinical drug trials in osteoporosis research but also in clinical practice, the preferred method is radiographic SQ assessment., because an expert eye can better distinguish between true fractures and vertebral anomalies than can quantitative morphometry. However, vertebral morphometry, calculating the deformity of overall thoracic and lumbar spine, may supply useful data about the vertebral fracture risk. VFA performed during routine densitometry allows identification, by visual or morphometric methods, of most osteoporotic vertebral fractures, even those that are asymptomatic. PMID:20609892

Diacinti, Daniele; Guglielmi, Giuseppe

2010-05-01

273

Isolated Congenital Left Ventricular Diverticulum  

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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

274

Congenital cystic lesions of the biliary tree  

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

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

2012-01-01

275

Case series: Congenital left ventricular diverticulum  

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Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

Shah Dharita; Kumar C; Shah Mukesh; Baraiya Mihir

2010-01-01

276

The Arnold-Chiari malformation.  

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The Arnold-Chiari malformation is a developmental abnormality of the brainstem and cerebellum with displacement of these structures into the cervical spinal canal. Other anomalies involving the base of the skull and vertebral bodies are frequently present. In children, hydrocephalus and myelomeningocele may complicate the picture. In adults, symptoms usually do not occur until the third to fifth decade and then are often misdiagnosed as degenerative disease due to the presence of a syrinx in the cord. Treatment is focused on decompressing the spinal cord and brainstem. PMID:3750065

Raynor, R B

1986-05-01

277

Radiological findings in congenital cystic disease of the lung in infancy  

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

1982-01-01

278

[Superficial venous malformations].  

Science.gov (United States)

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

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

2010-04-01

279

Supravalvular Congenital Mitral Stenosis  

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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); therefore, 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 pat...

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

2002-01-01

280

Atypical presentations in Chiari II malformation.  

Science.gov (United States)

Myelomeningocele with Chiari II malformation and hydrocephalus is a common association seen in infants with a congenital failure of neurulation. Here we report two cases of such an association presenting with different sets of problems. The first patient presented with severe inspiratory stridor due to bilateral abductor vocal cord paralysis, which was relieved completely within 24 h of definitive surgery. The second patient experienced intraoperative cardiac arrest. Definitive surgery was followed after successful cardiopulmonary resuscitation. The cause of the perioperative sequence of events in both cases is attributed to the associated pathologies of Chiari II malformation. PMID:17047419

Rath, G P; Bithal, P K; Chaturvedi, A

2006-01-01

 
 
 
 
281

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

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

Julio Nazer H

2001-03-01

282

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

Scientific Electronic Library Online (English)

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

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

283

Congenital scoliosis - Quo vadis?  

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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

284

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)

1989-01-01

285

Congenital malformations of uterus and vagina  

International Nuclear Information System (INIS)

The radiographic findings according to the classification of Buttram and Gibbons are described for HSG, ultrasound and MRI. The advantages and limitations of each method are discussed, and finally an algorithm for imaging is recommended. (orig.)

1994-07-01

286

Genetics Home Reference: Capillary malformation-arteriovenous malformation syndrome  

Science.gov (United States)

... PubMed Recent literature OMIM Genetic disorder catalog Conditions > Capillary malformation-arteriovenous malformation syndrome (often shortened to CM- ... definitions Reviewed August 2011 What is CM-AVM? Capillary malformation-arteriovenous malformation syndrome (CM-AVM) is a ...

287

RECTAL DUPLICATION CYST IN PREVIOUS ANORECTAL MALFORMATION AND DOWN SYNDROME  

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

A. Burgio

2012-12-01

288

Natural course of the arteriovenous malformations of the brain  

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Arteriovenous cerebral malformations represent congenital malformations. Considering the anatomical characteristics of the cerebral angiomas and their localization, in a great number of cases they demand a combined therapeutic approach - surgery,. embolization and radiotherapy. Besides the constant progress of technology, 5% of all cerebral angiomas can not be completely excluded from the circulation. Therefore, the need to understand their natural course became a necessity. Our results point...

Tasi? G.M.; Kosti? A.; ?urovi? B.M.; Jovanovi? V.T.; Nikoli? I.M.; Eri? A.M.; Jokovi? M.B.; Mi?ovi? M.V.

2008-01-01

289

Treatment of Arteriovenous Malformations with Hydrocoils in a Swine Model  

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Arteriovenous malformations (AVM) of the brain are the most common symptomatic congenital vascular malformation of the central nervous system, with significant associated morbidity and mortality. This study compared the feasibility and efficacy of treating AVMs by embolization with hydrocoils with similar treatment with bare platinum coils, using the swine rete mirabile as a model. A right carotid–jugular fistula was created in ten swine. A microcatheter was positioned into the rete mirabil...

Amiridze, N. S.; Darwish, R.; Griffith, G. M.; Zoarskia, G. H.

2008-01-01

290

Chiari I malformation: A missed diagnosis  

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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

291

Dandy-Walker malformation: An incidental finding  

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Full Text Available Dandy-Walker malformation (DWM is a rare intracranial congenital abnormality that affects the cerebellum and some of its components; particularly cerebellar vermis, fourth ventricle and is characterized by an enlarged posterior fossa. Although there is an extensive list of signs attributed to DWM, final diagnosis is solely dependent on imaging techniques as there are no signs that are characteristic of DWM. This article reports a case with DWM who was diagnosed by magnetic resonance imaging.

Tadakamadla Jyothi

2010-01-01

292

Model organisms inform the search for the genes and developmental pathology underlying malformations of the human hindbrain  

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Congenital malformations the human hindbrain, including the cerebellum, are poorly understood largely because their recognition is a relatively recent advance for imaging diagnostics. Cerebellar malformations are the most obvious and best characterized hindbrain malformations due to their relative ease to view by MRI and the recent identification of several causative genes1. Malformations of the pons and medulla have also been described both in isolation and in association with cerebellar mal...

Aldinger, Kimberly A.; Elsen, Gina E.; Prince, Victoria E.; Millen, Kathleen J.

2009-01-01

293

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

Science.gov (United States)

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.

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

2010-01-01

294

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

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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

2010-09-01

295

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

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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

296

Congenital cysts and fistulas of the neck.  

Science.gov (United States)

This retrospective study describes a series of 191 children treated for congenital cysts and fistulas of the neck between 1984 and 1999 in the pediatric ORL Department of La Timone Children's Hospital. Preauricular fistulas and cystic hygromas were not included. The anomalies in this series were classified as either malformations of the midline or malformations of laterocervical region. Malformations of the midline included the thyroglossal duct cysts (n=102) and dermoid cysts (n=21). The most common malformations of the laterocervical region were cysts and fistulas of the second cleft (n=37) followed by those of the first cleft (n=20),those of the fourth pouch (n=7), and thymic cysts (n=4). Diagnosis of malformations of the midline is usually straightforward. However, diagnosis of malformation of the laterocervical region can be problematic. Misdiagnosis often leads to inadequate treatment with recurrence and functional as well as cosmetic sequelae. PMID:11006451

Nicollas, R; Guelfucci, B; Roman, S; Triglia, J M

2000-09-29

297

Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report  

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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

298

Clinical review of inner ear malformation  

International Nuclear Information System (INIS)

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

2003-10-01

299

[Giant venous malformation of the tongue: the value of Surgiflo].  

Science.gov (United States)

Cavernous hemangiomas are rare congenital venous malformations having propensity for the head and neck. These venous malformations, especially the large and intraoral ones, may cause severe symptoms requiring aggressive treatment. Today, the main treatment is based on sclerotherapy, associated or no with surgery. We report on a patient presenting an enormous venous malformation of the face and tongue, which was treated successfully in our department by embolization, sclerotherapy and maxillo-facial surgery, with a special focus on Surgiflo in our technique. PMID:20399053

Slaba, S; Braidy, C; Sader, R B; Hokayem, N; Nassar, J

2010-06-01

300

Congenital block vertebrae in lumbar spine  

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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

 
 
 
 
301

Ethanol sclerotherapy of peripheral venous malformations  

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

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

2004-12-01

302

Ethanol sclerotherapy of peripheral venous malformations  

International Nuclear Information System (INIS)

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

2004-12-01

303

Congenital block vertebrae in lumbar spine  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 f...

2013-01-01

304

[Vertebral hemangioma. Definition, limitations, anatomopathologic aspects].  

Science.gov (United States)

Vertebral hemangiomas are benign, malformative vascular tumours composed of newly formed blood vessels with normal (capillary, venous, or veno-capillary) structure and without arterio-venous shunt; they involve firstly the vertebra and may secondary extend to the epidural space. These features allow to separate vertebral hemangiomas from bone lymphangiomas, from true neoplastic vascular tumours such as hemangioendotheliomas, hemangiopericytomas, angiosarcomas, from hemangioblastomas and from arteriovenous malformations with shunt. The latter are usually associated with other vascular malformation of the skin and spinal cord in the same metameric segment(s) (metameric angiomatosis or Cobb syndrome). There are two microscopic types of vertebral hemangiomas which frequently coexist. Cavernous angiomas are composed of large dilated blood vessels closely clustered together, so that they are not separated by normal bone tissue. Capillary angiomas are formed of thin-walled capillary vessels of various sizes separated by normal bone tissue. The vascular malformation is not separated from the bone tissue by a capsule; the surrounding osseous lamellae usually show secondary osteolysis and osteocondensation, and the bone marrow undergo fibrous and/or adipose involution. PMID:2483579

Gray, F; Gherardi, R; Benhaiem-Sigaux, N

1989-01-01

305

Our experience in congenital pouch colon  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital pouch colon is considered to be a malformation seen only in north india. we carried out a prospective study of congenital pouch colon from 1991 to 2005 to determine what interventions are most suited for the short and long term management of this compex malformation. anatomical details, procedures and continence outcomes were recorded. patients were managed in a private and public hospital by a single surgeon. 17 patients could be enrolled in the study. we could reconstruct 16/17 patients. with aggressive bowel management, 9/14 patients could achieve continence.

Gharpure Vivek

2007-01-01

306

Pseudoankylosis of the temporomandibular joint caused by zygomatic malformation.  

Science.gov (United States)

Temporomandibular joint (TMJ) pseudoankylosis is characterized by limited mouth opening and mandibular movements, resulting from factors outside the joint. The authors present a case of TMJ pseudoankylosis caused by congenital zygomatic malformation and hyperplasia of the coronoid process. Treatment with coronoidectomy and postoperative physiotherapy achieved favorable results. PMID:20227851

Baraldi, C E; Martins, G L; Puricelli, E

2010-07-01

307

Concurrent basilar artery double fenestration with aneurysm and vertebral artery dissection: case report and literature review of rare cerebrovascular abnormalities.  

Science.gov (United States)

Many disorders can cause aneurysm and/or dissection of the cerebral arteries, including fibromuscular dysplasia (FMD), connective tissue disorders, cerebral vasculitis, infection, and vascular malformations. Arterial fenestration is a rare congenital finding that can also cause aneurysms, and can rarely dissect and bleed. Treatment of aneurysm and dissection with subarachnoid hemorrhage can be very complicated, and requires case-by-case analysis of the risks and benefits of antithrombotic therapy. To the authors' knowledge, no case of double fenestration of the basilar artery has been reported. This report presents a case of concurring vertebral artery dissection and double fenestration of the basilar artery with aneurysm. The fenestration and FMD are considered possible main contributing causes of this presentation. A literature review of cerebrovascular fenestration and FMD is provided and the relationship between the 2 is considered. Lastly, the use of antithrombotic therapy in the setting of subarachnoid hemorrhage, dissection, and stent placement is discussed. PMID:23548267

Stark, Madeline M; Skeik, Nedaa; Delgado Almandoz, Josser E; Crandall, Benjamin M; Tubman, David E

2013-05-01

308

Congenital Myopathy  

Science.gov (United States)

NINDS Congenital Myopathy Information Page Synonym(s): Myopathy - Congenital Table of Contents (click to jump to sections) What is Congenital Myopathy? Is ... Organizations Additional resources from MedlinePlus What is Congenital Myopathy? A myopathy is a disorder of the muscles ...

309

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.

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

310

Microgastria: congenital microgastria  

Directory of Open Access Journals (Sweden)

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

Nilton Crepaldi Vicente

2001-08-01

311

Isolated congenital pleural effusion in two neonates.  

Science.gov (United States)

Congenital isolated pleural effusion, a non-specific accumulation of fluid in the pleural space, is an uncommon anomaly which can be associated with structural malformations, inflammatory or iatrogenic problems, genetic syndromes or fetal hydrops. Here, we present two neonates with isolated congenital pleural effusion, one of which was associated with Down syndrome and the other with empyema and bloodstream infection caused by Burkholderia gladioli septicemia. We wanted to discuss the diagnosis and management of this rare clinical entity. PMID:22554367

Karagöl, Belma Sayg?l?; Okumu?, Nurullah; Karada?, Nilgün; Zenciro?lu, Ay?egül

2012-01-01

312

Case series: Congenital left ventricular diverticulum  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

Shah Dharita

2010-01-01

313

Socio-occupational status and congenital anomalies  

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

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

2009-01-01

314

Congenital partial arhinia: a case report.  

Science.gov (United States)

Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported. Patients with a familial absence of the nose have been reported, but the effects of genetic and maternal factors are unknown. Midface hypoplasia may accompany arhinia. Accompanying malformations are thought to be caused by an absent or rudimentary nose. A patient with partial congenital arhinia is presented and the embryology and literature review are discussed. PMID:17883831

Akkuzu, Guzin; Akkuzu, Babur; Aydin, Erdinc; Derbent, Murat; Ozluoglu, Levent

2007-01-01

315

Congenital partial arhinia: a case report  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported. Patients with a familial absence of the nose have been reported, but the effects of genetic and maternal factors are unknown. Midface hypoplasia may accompany arhinia. Accompanying malformations are thought to be caused by an absent or rudimentary nose. A patient with partial congenital arhinia is presented and the embryology and lit...

2007-01-01

316

Congenital partial arhinia: a case report  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Abstract Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported. Patients with a familial absence of the nose have been reported, but the effects of genetic and maternal factors are unknown. Midface hypoplasia may accompany arhinia. Accompanying malformations are thought to be caused by an absent or rudimentary nose. A patient with partial congenital arhinia is presented and the...

2007-01-01

317

A case of lateral facial clefts with Fallot tetralogy, duodenal stenosis and intestinal malrotation: a new multiple congenital anomaly syndrome?  

Science.gov (United States)

Multiple congenital malformations in a Caucasian female infant are described which include lateral facial clefts, malformed external ears, cleft palate, Fallot tetralogy, duodenal stenosis and intestinal malrotation. There were no associated limb or spinal anomalies. This case appears to be an example of a new multiple congenital anomaly syndrome. PMID:10327247

Kumar, D

1999-01-01

318

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

319

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

320

Vertebrate Taphonomy  

Science.gov (United States)

In this lab exercise, students investigate taphonomic processes operating on a large vertebrate carcass (whitetail deer: Odocoileus virginianus) in a temperate, humid, terrestrial environment (i.e., central Ohio). Prior to the lab, students read the 1991 review article on terrestrial vertebrate accumulations by A. K. Behrensmeyer. Once in the field, they familiarize themselves with the locality and note the state of the carcass and the position of any disarticulated portions of the beast. Using the stake flags they mark the location of all the elements of the carcass. Next, using the Brunton compasses and the measuring tape, create a map of the site. They then reassemble all the elements of the carcass on the tarp and identify all of the skeletal elements. Finally, the students compare the disarticulated skeleton with a control carcass placed in a wire mesh cage designed to exclude any macro-scavengers. In the lab, student synthesize their results and respond to a series of questions related to vertebrate taphonomy and the quality of the fossil record.

Goodwin, David

 
 
 
 
321

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

International Nuclear Information System (INIS)

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

1984-01-01

322

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

Science.gov (United States)

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

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

1989-02-01

323

Experience with 40 cases of congenital pouch colon  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Aim : The aim of this study was to analyze the clinical and management aspect of congenital pouch colon. Materials and Methods : This retrospective study was carried out on 40 cases of congenital pouch colon managed in the department of paediatric surgery from 01, January 2000 to 31, December 2005. Results : The incidence of congenital pouch colon (CPC) in the present study was 11.290 % (40 of 354) of all anorectal malformations (ARM) and 19.60% (40 of 20...

Ghritlaharey R; Budhwani K; Shrivastava D; Gupta G; Kushwaha A; Chanchlani R; Nanda M

2007-01-01

324

Congenital heart diverticulum: a case report and literature review  

International Nuclear Information System (INIS)

A case of congenital ventricular diverticulum accompanied by angina pectoris was diagnosed with cardiac catheterization angiography and released through percutaneous coronary intervention of stenosis stenting. Since congenital cardiac diverticulum is a rare abnormality with obscurity symptoms, no pathophysiologic, diagnostic and therapeutic characteristics, outcoming with no definite approach to this cardiac malformation. According to our knowledge, the only way to provide the reference of the diagnosis and treatment of the congenital cardiac diverticulum is through comprehensive study of the literature. (authors)

2008-09-01

325

Central nervous system malformations in a perinatal/neonatal autopsy series.  

Science.gov (United States)

Congenital malformations of the central nervous system (CNS) are among the most common anomalies, but data on the incidence of CNS malformations in autopsy populations are scant. We examined 4122 autopsies between the years 1958 and 1995. There were 363 cases (8.8%) with CNS malformations; 235 were neonates and 128 stillborns. The overall gender ratio was 1:1, although more male neonates and more female stillborns had malformations. The body weights ranged from 24 to 6440 g. Neural tube defects were the most common types of malformations (45.5%) and included anencephaly, meningoencephalocele, meningocele/meningomyelocele, craniospinal rachischisis, and spina bifida occulta. The incidences of other malformations were: congenital hydrocephalus (12.4%), neuronal/glial proliferation disorders such as micro- and macrocephaly (8.8%), neuronal migration disorders (8.8%), prosencephalon growth disorders such as holoprosencephaly and arhinencephaly (8.5%), abnormalities of the midline structures such as agenesis of corpus callosum (4.1%), developmental cysts (3.3%), cerebellar malformations (3%), and vascular malformations (2%). Miscellaneous malformations (3%) consisted of acephalia in four cases with twin reversed arterial perfusion (TRAP), two cases of hydranencephaly, and four cases of rare degenerative and metabolic encephalopathies. PMID:10463270

Pinar, H; Tatevosyants, N; Singer, D B

1998-01-01

326

Persistent congenital milia with naevus spilus  

Directory of Open Access Journals (Sweden)

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

Mishra Dharmendra

1995-01-01

327

Congenital Pseudoarthrosis of the clavicle - Case report  

International Nuclear Information System (INIS)

Congenital pseudoarthrosis of the clavicle (CPC) is a tare malformation of the scapular waist of unknown etiology. The lesion is usually unilateral and right sided. It is seldom symptomatic and X rays confirm the diagnosis. Treatment is usually non surgical, unless functional or cosmetic compromise of the shoulder is present

2006-09-01

328

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

329

Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary lymphangiectasia.  

Science.gov (United States)

We report a female infant with congenital lymphedema, facial anomalies, intestinal lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome. PMID:12794699

Bellini, Carlo; Mazzella, Massimo; Arioni, Cesare; Campisi, Corradino; Taddei, Gioconda; Tomà, Paolo; Boccardo, Francesco; Hennekam, Raoul C; Serra, Giovanni

2003-07-01

330

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.

2011-11-01

331

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

332

Posterior fossa malformations.  

Science.gov (United States)

Understanding embryologic development of the cerebellum and the 4th ventricle is essential for understanding posterior fossa malformations. Posterior fossa malformations can be conveniently classified into those that have a large posterior fossa and those with normal or small posterior fossa. Disorders associated with a large posterior fossa include classic Dandy-Walker malformation, Blake's pouch cyst, mega cisterna magna, and posterior fossa arachnoid cyst. Disorders associated with normal or small posterior fossa include Dandy-Walker variant, Joubert syndrome, tecto-cerebellar dysraphia, rhombencephalosynapsis, the neocerebellar hypoplasias, and cerebellar atrophy. Neuro-imaging features should enable the imager to provide the referring physician a logical approach to these complex posterior fossa malformations. PMID:21596278

Shekdar, Karuna

2011-06-01

333

[Prevention of congenital malformations by means of folic acid - insurmountable problems due to the German penal code and German drug legislation when preparing a preconceptional model in Saxony-Anhalt].  

Science.gov (United States)

For the last 20 years the prophylactic effect of the vitamin folic acid against the occurrence of neural tube defects has been known but in Germany this fact has not been realized by the public. The recommendations by medical institutions fail, among other reasons, because a folic acid prescription by gynaecologists comes too late in the course of events, i.e., women go to the gynaecologist when pregnancy has already set in and it is too late for preventive measures. An effective folic acid prophylaxis must take place before the onset of pregnancy. Data from the regional surveillance of congenital anomalies of the German Federal State of Saxony-Anhalt and interviews with women in maternity, as well as gynaecologists, indicate that there is a substantial knowledge deficit concerning folic acid prophylaxis. In 1998, therefore, a working group was set up in Saxony-Anhalt. It comprises representatives from interested institutions and has the goal of rectifying the knowledge deficit of women of childbearing age by way of a broad-based campaign while making use of the results of regional congenital anomalies monitoring. A pharmaceutical company was enlisted for cost-free distribution of its folic acid product. Legal problems with the prescription drug laws, the law against unfair competitive practices, the advertising of medicaments law and the SGB V (social code) made it impossible to procure multivitamins containing folic acid free of charge for women wanting a child. A highly differentiated legislation has hitherto prevented an elementary improvement in prevention. PMID:11507668

Rösch, C; Steinbicker, V; Robra, B P; Kolbe, M; Heinrich, C

2001-07-01

334

Vertebral collapses  

International Nuclear Information System (INIS)

Recent porotic vertebral collapses (RPCs) are frequently associated with replacement (low signal intensity) of normal bone marrow on T1-weighted spin-echo MR images (T1WIs), simulating malignancy. To find distinctive MR features, the authors compared patterns of signal intensity on pre- and post-Gd-DTPA T1WIs in 43 RPCs (in 14 patients) and 19 metastatic collapses (MCs) (in 13 patients). Final diagnosis was confirmed at pathologic examination in 18 patients and at follow-up in nine. On pre-Gd-DTPA T1WIs, complete replacement of normal bone marrow as present in 21% of RPCs and 63% of MCs, while incomplete replacement was seen in 49% of RPCs and 16% of MCs

1990-11-25

335

Maternal obesity and congenital heart defects: a population-based study123  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased.

Mills, James L.; Troendle, James; Conley, Mary R.; Carter, Tonia; Druschel, Charlotte M.

2010-01-01

336

Results of Surgery for Ebstein Anomaly: a Multicenter Study from the European Congenital Heart Surgeons Association  

Digital Repository Infrastructure Vision for European Research (DRIVER)

OBJECTIVE: Since most centers' experience with Ebstein anomaly is limited, we sought to analyze the collective experience of participating institutions of the European Congenital Heart Surgeons Association with surgery for this rare malformation.

2006-01-01

337

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

Directory of Open Access Journals (Sweden)

Full Text Available 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 submetidos 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.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: Registros 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.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 consecutive 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° (range 13-137°. Twenty four patients were female and 7 were male. Thirteen patients were teenagers and 18 were children (range 1-19 years

Luis Antonio Medeiros Moliterno

2013-01-01

338

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)

2008-10-01

339

Arteriovenous malformation of the uterus--a cause of massive operative bleeding.  

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Arteriovenous malformations of the uterus are extremely rare and they occur either in congenital or acquired forms. The most common clinical presentation is abnormal uterine bleeding, which may be aggravated by therapeutic curettage. Because of their rare incidence and clinical importance in management of patients, we report a case of arteriovenous malformation causing serious bleeding during a hysterectomy for uterine leiomyoma. The patient was a 47-year-old multiparous woman who had a histo...

Kim, I.; Ha, S. Y.; Yoon, S. A.; Lee, K. W.

1991-01-01

340

Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)  

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Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or without symptoms is esta...

2009-01-01

 
 
 
 
341

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

2006-10-01

342

Low flow vascular malformation of the buccal mucosa treated conservatively by sclerotherapy (3% sodium tetradecyl sulfate)  

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Vascular anomalies constitute some of the most difficult diagnostic and therapeutic enigmas in the head and neck region. It is of paramount importance that a modern classification system is established to differentiate vascular lesions from vascular malformations. Vascular malformations are usually congenital and venous anomalies usually expand because of hormonal changes such as puberty, pregnancy, or secondary to trauma. Here, we report a case which was diagnosed as low flow vascular malfor...

Candamourty, Ramesh; Venkatachalam, Suresh; Babu, M. R. Ramesh; Reddy, Vineela Katam

2012-01-01

343

Malformations of the craniocervical junction (chiari type I and syringomyelia: classification, diagnosis and treatment)  

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Abstract Chiari disease (or malformation) is in general a congenital condition characterized by an anatomic defect of the base of the skull, in which the cerebellum and brain stem herniate through the foramen magnum into the cervical spinal canal. The onset of Chiari syndrome symptoms usually occurs in the second or third decade (age 25 to 45 years). Symptoms may vary between periods of exacerbation and remission. The diagnosis of Chiari type I malformation in patients with or witho...

Avellaneda Fernández Alfredo; Isla Guerrero Alberto; Izquierdo Martínez Maravillas; Amado Vázquez María Eugenia; Barrón Fernández Javier; Octavio Ester, Chesa I.; de la Cruz Labrado Javier; Escribano Silva Mercedes; Fernández de Gamboa Fernández de Araoz Marta; García-Ramos Rocío; García Ribes Miguel; Gómez Carmen; Insausti Valdivia Joaquín; Navarro Valbuena Ramón; Ramón José R

2009-01-01

344

Regional ependymal upregulation of vimentin in Chiari II malformation, aqueductal stenosis, and hydromyelia.  

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Vimentin, glial fibrillary acidic protein (GFAP) and S-100beta protein were studied by immunocytochemistry in the ependyma of patients with Chiari II malformations, congenital aqueductal stenosis, and hydromyelia. Paraffin sections of brains and spinal cords of 16 patients were examined, 14 with Chiari II malformations, most with aqueductal stenosis and/or hydromyelia as associated features, and 2 patients with congenital aqueductal stenosis without Chiari malformation. Patients ranged in age from 20-wk gestation to 48 years. The results demonstrated: 1) in the fetus and young infant with Chiari II malformations, congenital aqueductal stenosis, and hydromyelia, vimentin is focally upregulated in the ependyma only in areas of dysgenesis and not in the ependyma throughout the ventricular system; 2) GFAP and S-100beta protein are not coexpressed, indicating that the selective upregulation of vimentin is not simple maturational delay; 3) vimentin upregulation also is seen in the ependymal remnants of the congenital atretic cerebral aqueduct, not associated with Chiari malformation; 4) in the older child and adult with Chiari II malformation, vimentin overexpression in the ependyma becomes more generalized in the lateral ventricles as well, hence evolves into a nonspecific upregulation. The interpretation from these findings leads to speculation that it is unlikely that ependymal vimentin is directly involved in the pathogenesis of Chiari II malformation, but may reflect a secondary upregulation due to defective expression of another gene. This gene may be one of rhombomeric segmentation that also plays a role in defective programming of the paraxial mesoderm for the basioccipital and supraoccipital bones resulting in a small posterior fossa. This interpretation supports the hypothesis of a molecular genetic defect, rather than a mechanical cause, as the etiology of the Chiari II malformation. PMID:15255035

Sarnat, Harvey B

2004-01-01

345

‘Monster… -omics’: on segmentation, re-segmentation, and vertebrae formation in amphibians and other vertebrates  

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Background: The axial skeleton is one of the defining evolutionary landmarks of vertebrates. How this structure develops and how it has evolved in the different vertebrate lineages is, however, a matter of debate. Vertebrae and vertebral structures are derived from the embryonic somites, although the mechanisms of development are different between lineages. Discussion: Using the anecdotal description of a teratological newt (Triturus dobrogicus) with an unusual malformation in its axial skele...

2013-01-01

346

'Monster... -omics': on segmentation, re-segmentation, and vertebrae formation in amphibians and other vertebrates  

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Background: The axial skeleton is one of the defining evolutionary landmarks of vertebrates. How this structure develops and how it has evolved in the different vertebrate lineages is, however, a matter of debate. Vertebrae and vertebral structures are derived from the embryonic somites, although the mechanisms of development are different between lineages. Discussion: Using the anecdotal description of a teratological newt (Triturus dobrogicus) with an unusual malformation in its axial skele...

Buckley, David; Molna?r, Viktor; Ne?meth, Ga?bor; Petneha?zy, O?rs; Vo?ro?s, Judit

2013-01-01

347

Congenital Left Ventricular Diverticulum Associated with ASD, VSD, and Epigastric Hernia  

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Congenital left ventricular diverticulum is a rare cardiac malformation. Two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. Apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. Non-apical diverticula are always isolated defects. Diagnosis is established by imaging studies such as echocardiography, magnetic resonance imaging, or left ventricular angiograph...

Akbar Shahmohammadi; Nader Givtaj; Seyed Mohammad Dalili; Rahman Ghaffari

2008-01-01

348

MRI characteristics and classification of peripheral vascular malformations and tumors  

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Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance imaging (MRI) is a noninvasive effective tool for imaging and classification of vascular malformations based on the presence of lobulated masses, signal voids, and hemodynamic flow characteristics. MRI also provides details about anatomic extent of the lesion, proximity to vital structures, and involvement of multiple tissue planes. The prototype of vascular tumors is infantile hemangioma with its typical involution after a proliferative phase during infancy. Hemangioma appears as a distinct intensely enhancing soft tissue mass with enlarged feeding arteries and draining veins. Less common vascular tumors include congenital hemangioma, kaposiform hemangioendothilioma, angiolipoma, angiosarcoma, and hemangiopericytoma. (orig.)

Moukaddam, Hicham; Pollak, Jeffrey; Haims, Andrew H. [Yale University School of Medicine, Department of Radiology, New Haven, CT (United States)

2009-06-15

349

MRI characteristics and classification of peripheral vascular malformations and tumors  

International Nuclear Information System (INIS)

Vascular malformations and tumors comprise a broad spectrum of lesions that can cause significant morbidity and even mortality in children and adults. Classification of vascular malformations into high flow and low flow has significant impact on management since the main treatment of the former is transarterial embolization and the later percutaneous sclerotherapy. Magnetic resonance imaging (MRI) is a noninvasive effective tool for imaging and classification of vascular malformations based on the presence of lobulated masses, signal voids, and hemodynamic flow characteristics. MRI also provides details about anatomic extent of the lesion, proximity to vital structures, and involvement of multiple tissue planes. The prototype of vascular tumors is infantile hemangioma with its typical involution after a proliferative phase during infancy. Hemangioma appears as a distinct intensely enhancing soft tissue mass with enlarged feeding arteries and draining veins. Less common vascular tumors include congenital hemangioma, kaposiform hemangioendothilioma, angiolipoma, angiosarcoma, and hemangiopericytoma. (orig.)

2009-06-01

350

A case report of corgenotal cystic adenomatoid malformation  

International Nuclear Information System (INIS)

Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care

1987-08-01

351

Two cases of broncho-pulmonary foregut malformations  

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Full Text Available SUMMARY. Congenital broncho-pulmonary malformations are mostly asymptomatic. They are diagnosed during the investigation of a pulmonary infection or after a chest x-ray. Fetal ultrasound, chest x-ray, ventilation-perfusion scan, CT, MRI, barium meal, esophagoscopy, bronchoscopy and digital angiography can be used for further investigation. Surgical excision was our treatment of choice and had a significally good prognosis. Pneumon 2009; 22(2:178–185.

?leftherios D. Spartalis

2009-01-01

352

Pediatric Stroke: The Importance of Cerebral Arteriopathy and Vascular Malformations  

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Stroke is an important cause of neurologic morbidity in childhood. Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 children. This article will review recent literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations as stroke risk factors. Additional risk factors include congenital heart disease, sickle cell disease, and hematologic abnormalities among others. Outcomes ar...

2010-01-01

353

A case report of corgenotal cystic adenomatoid malformation  

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Congenital cystic adnomatoid malformation (CCAM) is rare pulmonary cystic disease. CCAM has been detected on prematurity, stillborn and respiratory distress infant or child by chest X-ray film and CT scan. One case of CCAM diagnosed in utero at gestational age 22 weeks is reported with sonographic findings and autopsy findings. Ultrasonographic findings are large cystic lesion in fetal thorax and fetal hydrops without hydramnios. The survival of these infants is very poor despite accurate prenatal diagnosis and maximal postnatal care.

Jun, Soon Ae; Cha, Kyung Sub; Chi, Je Geun [Cha Women' s Hospital, Seoul (Korea, Republic of)

1987-08-15

354

MRI of the brain: malformations. IRM encephalique pathologie malformative  

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

Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V. (Hopital Pontchaillou, 35 - Rennes (FR))

1990-01-01

355

Polymicrogyria: A common and heterogeneous malformation of cortical development.  

Science.gov (United States)

Polymicrogyria (PMG) is one of the most common malformations of cortical development. It is characterized by overfolding of the cerebral cortex and abnormal cortical layering. It is a highly heterogeneous malformation with variable clinical and imaging features, pathological findings, and etiologies. It may occur as an isolated cortical malformation, or in association with other malformations within the brain or body as part of a multiple congenital anomaly syndrome. Polymicrogyria shows variable topographic patterns with the bilateral perisylvian pattern being most common. Schizencephaly is a subtype of PMG in which the overfolded cortex lines full-thickness clefts connecting the subarachnoid space with the cerebral ventricles. Both genetic and non-genetic causes of PMG have been identified. Non-genetic causes include congenital cytomegalovirus infection and in utero ischemia. Genetic causes include metabolic conditions such as peroxisomal disorders and the 22q11.2 and 1p36 continguous gene deletion syndromes. Mutations in over 30 genes have been found in association with PMG, especially mutations in the tubulin family of genes. Mutations in the (PI3K)-AKT pathway have been found in association PMG and megalencephaly. Despite recent genetic advances, the mechanisms by which polymicrogyric cortex forms and causes of the majority of cases remain unknown, making diagnostic and prenatal testing and genetic counseling challenging. This review summarizes the clinical, imaging, pathologic, and etiologic features of PMG, highlighting recent genetic advances. © 2014 Wiley Periodicals, Inc. PMID:24888723

Stutterd, Chloe A; Leventer, Richard J

2014-06-01

356

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

357

Congenital sensorineural hearing loss  

International Nuclear Information System (INIS)

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

1984-01-01

358

Congenital lumbar hernia.  

Science.gov (United States)

Congenital lumbar hernia (CLH) is a rare anomaly with only 45 cases reported in the English-language literature. This paper describes nine patients with CLH treated in our unit. Unusual features included the relatively high incidence of inferior lumbar hernia, presentation at the age of 6 years in one case, and an association with hydrometrocolpos and anorectal malformation, which is hitherto unreported. In seven patients the hernia could be repaired successfully. One patients' parents refused surgery for the CLH after treatment of a hydrometrocolpos and another died of fulminant pneumonia before the operation. Early operation is the treatment of choice, and repair with local tissues is preferable. The need for prosthetic material arises when the size of the defect is large. A successful operation offers a good quality of life. PMID:10663870

Wakhlu, A; Wakhlu, A K

2000-01-01

359

Functional analysis of candidate genes in 2q13 deletion syndrome implicates FBLN7 and TMEM87B deficiency in congenital heart defects and FBLN7 in craniofacial malformations.  

Science.gov (United States)

Recurrent 2q13 deletion syndrome is associated with incompletely penetrant severe cardiac defects and craniofacial anomalies. We used an atypical, overlapping 1.34 Mb 2q13 deletion in a patient with pathogenically similar congenital heart defects (CHD) to narrow the putative critical region for CHD to 474 kb containing six genes. To determine which of these genes is responsible for severe cardiac and craniofacial defects noted in the patients with the deletions, we used zebrafish morpholino knockdown to test the function of each orthologue during zebrafish development. Morpholino-antisense-mediated depletion of fibulin-7B, a zebrafish orthologue of fibulin-7 (FBLN7), resulted in cardiac hypoplasia, deficient craniofacial cartilage deposition and impaired branchial arch development. TMEM87B depletion likewise resulted in cardiac hypoplasia but with preserved branchial arch development. Depletion of both fibulin-7B and TMEM87B resulted in more severe defects of cardiac development, suggesting that their concurrent loss may enhance the risk of a severe cardiac defect. We postulate that heterozygous loss of FBLN7 and TMEM87B account for some of the clinical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion syndrome. PMID:24694933

Russell, Mark W; Raeker, Maide O; Geisler, Sarah B; Thomas, Peedikayil E; Simmons, Tracy A; Bernat, John A; Thorsson, Thor; Innis, Jeffrey W

2014-08-15

360

Congenital epulis.  

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A tumor was found to be arising from the right maxillary alveolar margin of a newborn baby. No other congenital abnormality was detected. Following excision and histopathological examination, diagnosis of benign congenital granular cell epulis was made. The post-operative course was uneventful.

1993-01-01

 
 
 
 
361

Congenital epulis.  

Directory of Open Access Journals (Sweden)

Full Text Available A tumor was found to be arising from the right maxillary alveolar margin of a newborn baby. No other congenital abnormality was detected. Following excision and histopathological examination, diagnosis of benign congenital granular cell epulis was made. The post-operative course was uneventful.

Subramaniam R

1993-01-01

362

MRI of the brain: malformations  

International Nuclear Information System (INIS)

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

1990-01-01

363

High anorectal malformation in a five-month-old boy: a case report  

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Full Text Available Abstract Introduction Anorectal malformation, one of the most common congenital defects, may present with a wide spectrum of defects. Almost all male patients present within first few days of life. Case presentation A five-month-old baby boy of Indian origin and nationality presented with anal atresia and associated rectourethral prostatic fistula. The anatomy of the malformation and our patient's good condition permitted a primary definitive repair of the anomaly. A brief review of the relevant literature is included. Conclusion Delayed presentation of a patient with high anorectal malformation is rare. The appropriate treatment can be rewarding.

Pandey Anand

2010-08-01

364

[Retinal arteriovenous malformation].  

Science.gov (United States)

The case of a 27-year-old patient is described who presented at our hospital with an asymptomatic retinal vascular alteration which was found during a routine check-up. The typical clinical presentation led to the diagnosis of an arteriovenous malformation. Further diagnostics did not show any indications for an involvement of brain or facial blood vessels. PMID:20533045

Finis, D; Stammen, J

2010-12-01

365

Malformações vasculares Vascular malformations  

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Full Text Available Com o conhecimento cada vez maior da angiogênese, as anomalias vasculares foram divididas em tumores e malformações vasculares. As malformações vasculares, objeto deste trabalho, são categorizadas ou pela natureza dos canais vasculares (capilares, arteriais, venosos ou linfáticos, ou pelo tipo de fluxo (alto ou baixo, ou ainda pela distribuição (localizadas ou difusas. Além disso, há as malformações complexas combinadas, nas quais se encaixa a maioria das síndromes vasculares. Os autores apresentam uma revisão do asssunto, discorrendo sobre características clínicas, diagnóstico e tratamento dessas anomalias.As a result of increased knowledge on angiogenesis, vascular anomalies have been separated into tumors and vascular malformations. Vascular malformations, the subject of this review, are classified either by the nature of the vessels (capillary, arterial, venous or lymphatic, type of flow (high or low or even by distribution (localized or diffuse. Furthermore there are the complex-combined malformations, a feature present in most vascular syndromes. A review of the clinical aspects, diagnosis and treatment of vascular malformations is presented in this paper.

Bernardo Gontijo

2004-02-01

366

Osteoporotic Vertebral Compression Fractures and Vertebral Augmentation  

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Vertebral fractures account for ~27% of all osteoporotic fractures in both men and women. The economic burden is substantial and growing: osteoporosis is expected to affect 14 million people by the year 2020. There is substantial morbidity associated with osteoporotic vertebral compression fractures (VCFs) including decreased quality of life, reduced pulmonary function, and increased mortality. Relatively recent additions to the treatment armamentarium include vertebral augmentation using ver...

2008-01-01

367

The role of MRI in suspected inner ear malformations  

International Nuclear Information System (INIS)

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

2003-12-01

368

Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia : A hospital-based study  

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Background and Objectives: The exact antenatal prevalence of congenital anomalies in Saudi society is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counselling, intervention and possible fetal therapy. The objective of this study was to evaluate the antenatal frequency of major congenital anomalies and malformation patterns in our hospital population and to evaluate the outcome and perinatal mortality rates for major congenital anomalies. Patients...

2008-01-01

369

Congenital absence of the lumbosacral articular processes  

International Nuclear Information System (INIS)

Absence of a lumbar or sacral articular process is rare. The congenital absence of the posterior elements of these vertebral bodies should not be confused with a destructive lesion. Computed tomography (CT) scanning is indicated, if there is any question as to the diagnosis. (orig.)

1982-01-01

370

Congenital partial arhinia: a case report  

Directory of Open Access Journals (Sweden)

Full Text Available Abstract Congenital arhinia is an extremely rare anomaly consisting of an absence of external nasal structures and nasal passages. Fewer than 30 cases have been reported. Patients with a familial absence of the nose have been reported, but the effects of genetic and maternal factors are unknown. Midface hypoplasia may accompany arhinia. Accompanying malformations are thought to be caused by an absent or rudimentary nose. A patient with partial congenital arhinia is presented and the embryology and literature review are discussed.

Akkuzu Guzin

2007-09-01

371

Congenital diaphragmatic hernia candidate genes derived from embryonic transcriptomes  

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Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live births) major congenital malformation that results in significant morbidity and mortality. The discovery of CDH loci using standard genetic approaches has been hindered by its genetic heterogeneity. We hypothesized that gene expression profiling of developing embryonic diaphragms would help identify genes likely to be associated with diaphragm defects. We generated a time series of whole-transcriptome expression profiles from ...

Russell, Meaghan K.; Longoni, Mauro; Wells, Julie; Maalouf, Faouzi I.; Tracy, Adam A.; Loscertales, Maria; Ackerman, Kate G.; Pober, Barbara R.; Lage, Kasper; Bult, Carol J.; Donahoe, Patricia K.

2012-01-01

372

A Triad of Congenital Diaphragmatic Hernia, Meckel's Diverticulum, and Heterotopic Pancreas  

Science.gov (United States)

Congenital diaphragmatic hernia is a common developmental anomaly encountered by paediatric surgeons. It is known to be associated with extradiaphragmatic malformations, which include cardiac, renal, genital, and chromosomal abnormalities. Herein, we report a newborn born with concurrent congenital diaphragmatic hernia, Meckel's diverticulum, and heterotopic pancreatic tissue. This is the first case report of such a triad with description of possible mechanisms of the development.

Mandhan, Parkash; Al Saied, Amer; Ali, Mansour J.

2014-01-01

373

Congenital toxoplasmosis  

Science.gov (United States)

Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... The developing baby can become infected with toxoplasmosis if the ... spread to the developing baby during the pregnancy itself, or ...

374

Congenital syphilis  

Science.gov (United States)

Congenital lues; Fetal syphilis ... which is passed from mother to child during fetal development or at birth. Nearly half of all ... problem of the lower leg) Scarring of the skin around the mouth, genitals, and anus

375

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

Science.gov (United States)

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

Al-Alaiyan, Saleh; Alfaleh, Khalid M

2012-01-01

376

CONGENITAL MYOPATHIES  

Directory of Open Access Journals (Sweden)

Full Text Available Congenital myopathies are a heterogeneous group of disorders characterized by muscle weakness and typical histopathological changes at muscle biopsy. In spite of recent advances on molecular genetics, their classification is still based on morphological criteria. Phenotypical and genetic heterogeneicity are common findings. The clinical symptoms usually appear in infancy, but adult-onset cases have been described. In this review, we focus on the current knowledges on congenital myopathies and we report our experience on adult-onset cases.

MT. Dotti

2009-11-01

377

Disorders of cognitive and affective development in cerebellar malformations.  

Science.gov (United States)

Acquired cerebellar lesions in adults and children can lead to the development of a complex behavioural pattern termed 'Cerebellar Cognitive Affective Syndrome' (Schmahmann and Sherman, Brain, 1998; 121: 561-79), which is characterized by reduced cognitive efficiency associated with specific neuropsychological deficits (executive and visuospatial disorders), expressive language disorders (mild agrammatism and anomia) and affective disorders with blunting of affect. It is not known whether a symptomatological picture such as this can also be found in congenital cerebellar malformations. We studied the behavioural developmental profile of 27 patients including children and adults with congenital malformations confined to the cerebellum, the largest studied sample to date. Extensive clinical and neuropsychological investigations highlight the presence of a wide range of disorders supporting the important role played by the cerebellum in the acquisition of higher-order cognitive and affective skills. The type and extent of cerebral reorganization processes in the presence of malformative lesions are difficult to predict and may possibly account for the variability of clinical phenotypes. It is, therefore, more difficult to identify a syndromic picture defined as exactly as is the case with acquired lesions. However, the pattern of deficits that we document is in remarkable agreement with the general profile of the Cerebellar Cognitive Affective Syndrome. Malformations affecting the cerebellar vermis induce affective and social disorders and evolve towards more unfavourable pictures often associated with an autistic symptomatology. Malformations of cerebellar hemispheres are more frequently associated with selective neuropsychological deficits involving mainly executive functions and visuospatial and linguistic abilities. Motor deficits are generally less severe, and tend to improve slowly and progressively, in some cases reaching almost complete functionality. Finally, the overall favourable evolution with an onset of skills in advanced age in a consistent subset of subjects suggests that individual follow-ups should be performed in order to monitor the quality and stability of impairments and acquired abilities over time. PMID:17872929

Tavano, Alessandro; Grasso, Rita; Gagliardi, Chiara; Triulzi, Fabio; Bresolin, Nereo; Fabbro, Franco; Borgatti, Renato

2007-10-01

378

Molecular genetics of congenital diaphragmatic defects  

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Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cel...

Bielinska, Malgorzata; Jay, Patrick Y.; Erlich, Jonathan M.; Mannisto, Susanna; Urban, Zsolt; Heikinheimo, Markku; Wilson, David B.

2007-01-01