WorldWideScience
 
 
1

Congenital Malformations of the Vertebral Column in Ancient Amphibians.  

UK PubMed Central (United Kingdom)

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

Witzmann F; Rothschild BM; Hampe O; Sobral G; Gubin YM; Asbach P

2013-04-01

2

Analysis of maternal risk factors associated with congenital vertebral malformations.  

UK PubMed Central (United Kingdom)

STUDY DESIGN: A retrospective medical record review of cases with congenital vertebral malformations (CVMs) and controls with normal spine morphology. OBJECTIVE: To determine the relative contribution of maternal environmental factors (MEFs) during pregnancy to CVM development. SUMMARY OF BACKGROUND DATA: CVMs represent defects in formation and segmentation of somites occurring with an estimated incidence of between 0.13 and 0.50 per 1000 live births. CVMs may be associated with various phenotypes and represent significant morbidity due to pain and cosmetic disfigurement. METHODS: A multicenter retrospective medical record review of 229 cases with CVM and 267 controls with normal spine morphology between the ages of 1 and 50 years was performed to obtain the odds ratio (OR) of MEF related to CVM among cases versus controls. An imputation-based analysis was performed in which subjects with no documentation of MEF history were treated as "no maternal exposure." Univariate and multivariate analyses were conducted to calculate the OR. RESULTS: Of the 229 total cases, 104 cases had single or multiple CVMs without additional congenital malformations (group 1) and 125 cases had single or multiple CVMs and additional congenital malformations (group 2). Nineteen percent of total cases had an identified MEF. The OR for MEF history for group 1 was 6.0 (95% confidence interval, 2.4-15.1; P < 0.001) in the univariate analysis. The OR for MEF history in group 2 was 9.1 (95% confidence interval, 3.8-21.6, P < 0.001) in the univariate analysis. The results were confirmed in the multivariate analysis after adjusting for age, sex, and institution. CONCLUSIONS: These results support a hypothesis for an association between these MEFs during pregnancy and CVM and have implications for development of prevention strategies. Further prospective studies are needed to quantify association between CVMs and specific MEF.Level of Evidence: 4.

Hesemann J; Lauer E; Ziska S; Noonan K; Nemeth B; Scott-Schwoerer J; McCarty C; Rasmussen K; Goldberg JM; Sund S; Eickhoff J; Raggio CL; Giampietro PF

2013-03-01

3

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.)

2001-01-01

4

Prevalence of Congenital Malformations  

Directory of Open Access Journals (Sweden)

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

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

2009-01-01

5

Treatment of congenital malformations.  

UK PubMed Central (United Kingdom)

The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and < 5% uterine and vaginal aplasia. Correct diagnosis of the malformation is most important but often very difficult. Correct treatment can only be performed if the malformation is clear. Longitudinal vaginal septums have to be removed due to potential obstetric problems. Transverse vaginal septums can cause hematocolpos and pain and have to be incised crosswise and excised so as not to shorten the vagina at the same time. Congenital vaginal agenesis occurs in Mayer-Rokitansky-Kuster-Hauser syndrome patients and in androgen insensitivity syndrome. The first choice for surgical treatment should be the new laparoscopic-assisted creation of a neovagina. Septate uterus has to be distinguished from a bicornuate uterus. Even if it is not proven to be a cause for infertility, the chance of miscarriage can be diminished by performing hysteroscopic metroplasty. Repair of a uterine septum in infertility patients often improves pregnancy rates. In contrast, surgical repair of a bicornuate uterus requires an abdominal metroplasty. This should only be performed if the patient has recurrent fetal loss due to the uterine structural defect. In a unicornuate uterus it is most important to determine if there is a second uterine horn that can cause cyclic pain if it has functioning endometrium. The only surgical option in these cases is to remove the rudimentary uterus with endometrium and hematometra, respectively.

Brucker SY; Rall K; Campo R; Oppelt P; Isaacson K

2011-03-01

6

Treatment of congenital malformations.  

Science.gov (United States)

The prevalence of müllerian malformations is 1 in 200, or 0.5%. A third of the anomalies are septate, a third bicornuate uteri, 10% arcuate uterus, 10% didelphis and unicornuate uterus, and hematometra, respectively. PMID:21437824

Brucker, Sara Yvonne; Rall, Katharina; Campo, Rudi; Oppelt, Peter; Isaacson, Keith

2011-03-24

7

Regenerative medicine for congenital malformations.  

UK PubMed Central (United Kingdom)

This is a review of the progress in regenerative medicine and concepts behind the field of tissue engineering and cell transplantation as it applies to congenital malformations. It is based on the Journal of Pediatric Surgery invited lecture to the BAPS/EUPSA Congress in Rome, Italy, June 2012.

De Coppi P

2013-02-01

8

Congenital occipitoatlantoaxial malformations in the horse.  

UK PubMed Central (United Kingdom)

From a clinical, radiological and morphological study of 9 horses with congenital malformations of the occiput, atlas and axis, and from a study of 2 reported cases, 3 diseases were defined: A. Familial occipitalisation of the atlas with atlantalisation of the axis in Arabian horses (7 cases in this report and the case reported by Leipold, et al., 1974). These horses had congenital atlantooccipital fusion, hypoplasia of the atlas and dens, malformation of the axis and modification of the atlantoaxial joint. B. Congenital asymmetrical occipitoatlantoaxial malformation (2 cases in this report). A Standardbred and a Morgan horse had atlantooccipital fusion, a wedge shaped vertebral piece attached to the caudal end of the axis and sigmoid scoliosis of the cervical vertebrae. C. Asymmetrical atlantooccipital fusion (the case reported by Schmaltz, 1915). This horse of an unknown breed had asymmetrical fusion between the atlas and occiput and cervical scoliosis. The clinical syndromes shown by horses with these malformations were variable but were broadly classified as: 1. Foal dead at birth, seen in one foal with A. 2. Tetraparesis at birth, seen in 5 foals with A. These foals were born with signs varying from tetraparesis to tetraplegia. 3. Progressive ataxia, seen in 2 foals with A. Clinical signs were due to a progressive focal cervical compressive myelopathy. 4. Congenital cervical scoliosis/deviated head, seen in the 2 horses with B and the horse with C. These horses had no signs of spinal cord or brain disease. The diagnoses were made clinically by palpation of the occipitoatlantoaxial region and were confirmed radiographically and/or by post mortem examination in all except one case. Pedigree analysis showed the familial nature of the particular occipitoatlantoaxial malformation seen in horses of only the Arabian breed.

Mayhew IG; Watson AG; Heissan JA

1978-04-01

9

Congenital occipitoatlantoaxial malformations in the horse.  

Science.gov (United States)

From a clinical, radiological and morphological study of 9 horses with congenital malformations of the occiput, atlas and axis, and from a study of 2 reported cases, 3 diseases were defined: A. Familial occipitalisation of the atlas with atlantalisation of the axis in Arabian horses (7 cases in this report and the case reported by Leipold, et al., 1974). These horses had congenital atlantooccipital fusion, hypoplasia of the atlas and dens, malformation of the axis and modification of the atlantoaxial joint. B. Congenital asymmetrical occipitoatlantoaxial malformation (2 cases in this report). A Standardbred and a Morgan horse had atlantooccipital fusion, a wedge shaped vertebral piece attached to the caudal end of the axis and sigmoid scoliosis of the cervical vertebrae. C. Asymmetrical atlantooccipital fusion (the case reported by Schmaltz, 1915). This horse of an unknown breed had asymmetrical fusion between the atlas and occiput and cervical scoliosis. The clinical syndromes shown by horses with these malformations were variable but were broadly classified as: 1. Foal dead at birth, seen in one foal with A. 2. Tetraparesis at birth, seen in 5 foals with A. These foals were born with signs varying from tetraparesis to tetraplegia. 3. Progressive ataxia, seen in 2 foals with A. Clinical signs were due to a progressive focal cervical compressive myelopathy. 4. Congenital cervical scoliosis/deviated head, seen in the 2 horses with B and the horse with C. These horses had no signs of spinal cord or brain disease. The diagnoses were made clinically by palpation of the occipitoatlantoaxial region and were confirmed radiographically and/or by post mortem examination in all except one case. Pedigree analysis showed the familial nature of the particular occipitoatlantoaxial malformation seen in horses of only the Arabian breed. PMID:565704

Mayhew, I G; Watson, A G; Heissan, J A

1978-04-01

10

Acalvaria: A rare congenital malformation.  

UK PubMed Central (United Kingdom)

Acalvaria is described as a rare congenital malformation in a 1-month-old female baby who presented with classical clinical features of soft, lax skull as a result of absent skull bones and associated muscles. Acalvaria is usually a fatal anomaly and is rarely discussed in English literature. Thus, we herein report a living case of acalvaria along with a review of the literature.

Gupta V; Kumar S

2012-09-01

11

Homeobox genes and congenital malformations.  

UK PubMed Central (United Kingdom)

In this review we have built a case for abnormal Hox gene expression in human congenital malformations without presenting any direct evidence of their involvement. This approach is justified by the dramatic advances in developmental genetics which emphasize the considerable similarity in the primary processes and molecules used to guide early morphogenesis in all species. Hox genes occupy a central role in this scheme, being activated in a specific rostral-caudal order after initial specification of the basic embryonic axes and, thereafter, specifying positional identity by influencing downstream "realizator" genes that carry out the position-specific program. These theoretical arguments, together with the dramatic results obtained in an evolutionarily similar organism (the mouse) using the transgenic and gene deletion approaches, make it highly likely that abnormalities in Hox gene structure and expression will soon be implicated in specific human congenital malformation syndromes. In parallel with this phenotypic analysis, we can expect that the animal models discussed in this review will provide greater detail regarding the upstream regulators and downstream targets of Hox gene products. Together these approaches promise to finally elucidate some of the underlying mechanisms responsible for human congenital malformations.

Redline RW; Neish A; Holmes LB; Collins T

1992-06-01

12

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation  

Energy Technology Data Exchange (ETDEWEB)

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

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

2006-08-15

13

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

14

[Intestinal malformations and congenital heart diseases].  

Science.gov (United States)

A series of 21 patients with both congenital heart disease and intestinal malformation seen over a 12-year period is reported. The intestinal malformations were: anorectal malformations (11 cases), duodenal atresia (5), omphalocele (4) and common mesentery (1). Congenital heart diseases consisted of: atrial septal defect (ASD) (10 cases), ventricular septal defect (VSD) (2), tetralogy of Fallot (2) and miscellaneous cardiopathies. In patients with anorectal malformations ASD and VSD predominated (6/11 cases) and multiple malformations syndromes were present in 8 cases, including trisomy 13, Vater syndrome, skeletal (4), neurological (3) and renal abnormalities (3); 3 children died. Duodenal atresia was always associated with left-to-right shunt: VSD (3), ductus arteriosus (2), complete atrioventricular canal (1) and trisomy 21 (2); one child died. Omphalocele coexisted with VSD (2), tetralogy of Fallot (1), dual outlet right ventricle (1), trisomy 21 (1) and multiple malformations syndromes (3); 2 children died. The patient with common mesentery had left-to-right shunt. Comparison of this series with data from the literature showed that children with congenital heart disease have a much higher incidence of intestinal malformations than those with normal heart and that they frequently present with multiple malformations (chromosome aberrations or multiple organ lesions). This multiple malformation complex is particularly common in anorectal malformations where the incidence of congenital heart diseases is 9 to 14%, with predominance of VSD and tetralogy of Fallot. In patients with duodenal atresia trisomy 21 is extremely frequent, and the incidence of cardiopathies is 18%; in the absence of trisomy 21 the cardiopathy is complex.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:3113372

Voisin, M; Galifer, R B; Kadiri, T; Grolleau, R; Dumas, R; Jean, R

1987-04-01

15

[Intestinal malformations and congenital heart diseases  

UK PubMed Central (United Kingdom)

A series of 21 patients with both congenital heart disease and intestinal malformation seen over a 12-year period is reported. The intestinal malformations were: anorectal malformations (11 cases), duodenal atresia (5), omphalocele (4) and common mesentery (1). Congenital heart diseases consisted of: atrial septal defect (ASD) (10 cases), ventricular septal defect (VSD) (2), tetralogy of Fallot (2) and miscellaneous cardiopathies. In patients with anorectal malformations ASD and VSD predominated (6/11 cases) and multiple malformations syndromes were present in 8 cases, including trisomy 13, Vater syndrome, skeletal (4), neurological (3) and renal abnormalities (3); 3 children died. Duodenal atresia was always associated with left-to-right shunt: VSD (3), ductus arteriosus (2), complete atrioventricular canal (1) and trisomy 21 (2); one child died. Omphalocele coexisted with VSD (2), tetralogy of Fallot (1), dual outlet right ventricle (1), trisomy 21 (1) and multiple malformations syndromes (3); 2 children died. The patient with common mesentery had left-to-right shunt. Comparison of this series with data from the literature showed that children with congenital heart disease have a much higher incidence of intestinal malformations than those with normal heart and that they frequently present with multiple malformations (chromosome aberrations or multiple organ lesions). This multiple malformation complex is particularly common in anorectal malformations where the incidence of congenital heart diseases is 9 to 14%, with predominance of VSD and tetralogy of Fallot. In patients with duodenal atresia trisomy 21 is extremely frequent, and the incidence of cardiopathies is 18%; in the absence of trisomy 21 the cardiopathy is complex.(ABSTRACT TRUNCATED AT 250 WORDS)

Voisin M; Galifer RB; Kadiri T; Grolleau R; Dumas R; Jean R

1987-04-01

16

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; Hossein Shahriari; Mahin Hashemipour

2006-01-01

17

FULL SCIENTIFIC REPORTS - Complex vertebral malformation in Holstein calves.  

DEFF Research Database (Denmark)

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

Agerholm, JØrgen S.; Bendixen, Christian

2001-01-01

18

Paternal occupational lead exposure and congenital malformations.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

STUDY OBJECTIVE--The aim was to investigate whether occupational exposure to lead in fathers is associated with congenital malformation in their children. DESIGN--The study was a retrospective case-control study, nested within the wives of men biologically monitored for inorganic lead. Information o...

Sallmén, M; Lindbohm, M L; Anttila, A; Taskinen, H; Hemminki, K

19

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.  

UK PubMed Central (United Kingdom)

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

Takahashi S; Sago H; Kanamori Y; Hayakawa M; Okuyama H; Inamura N; Fujino Y; Usui N; Taguchi T

2013-08-01

20

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; Conceição Aparecida de Mattos Segre

2010-01-01

 
 
 
 
21

MR findings of congenital anorectal malformation  

Energy Technology Data Exchange (ETDEWEB)

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

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

1995-05-15

22

Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.  

UK PubMed Central (United Kingdom)

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

Siebel S; Solomon BD

2013-02-01

23

Mitochondrial Factors and VACTERL Association-Related Congenital Malformations.  

Science.gov (United States)

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

Siebel, S; Solomon, B D

2013-02-01

24

Angiocardiography in congenital heart malformations  

Energy Technology Data Exchange (ETDEWEB)

The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders.

Soto, B.; Pacifico, A.D.

1990-01-01

25

Angiocardiography in congenital heart malformations  

International Nuclear Information System (INIS)

The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders

1990-01-01

26

[Congenital malformations: a model predictive based on risk factors  

UK PubMed Central (United Kingdom)

Several risk factors were studied in regard to congenital malformations. Malformed newborns (n = 1200) and controls (n = 1200) seen at the Universidad de Chile Hospital between 1969 and 1979 were examined. Their mothers were asked about possible risk factors. Parenteral age and birth order was significantly higher for malformed newborns than for controls. A family history of congenital malformations was more frequent in malformed newborns. Infertility, metrorrhagia and maternal diseases during pregnancy were more frequent in malformed newborns than in controls. A function that discriminates between controls mothers and mothers of malformed newborns was obtained by a logistic regression model. This function correctly predicted 65% of cases.

Cifuentes L; Nazer J; Catalán J; Parada L; Ruiz G

1989-06-01

27

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

28

Congenital malformations and testicular germ cell tumors.  

Science.gov (United States)

Cryptorchidism is one of the few known risk factors for testicular germ cell tumors (TGCT). It has been postulated that other congenital malformations, in particular hypospadias, are also associated with increased risk; however, associations with birth defects have not been extensively studied. Using Swedish population-based registries we evaluated the relationship between birth defects and risk of TGCT. TGCT cases (n = 6,593) diagnosed between 15 and 65 years of age were identified from the Swedish Cancer Registry between 1964 and 2008. Five controls per case were randomly selected from the population register and matched on birth year and birth county. Congenital malformations were identified via linkage with the Hospital Discharge Register. Odds ratios (ORs) and 95% confidence intervals (CIs) for the association between each group of malformations and TGCT were estimated using conditional logistic regression. In addition to the expected association between cryptorchidism and TGCT risk [OR (95% CI): 3.18 (2.50-4.04)], hypospadias [2.41 (1.27-4.57)], inguinal hernia [1.37 (1.11-1.68)] and other genital malformations [2.19 (1.17-4.10)] were associated with an increased risk of TGCT. Mutual adjustment for cryptorchidism, hypospadias, inguinal hernia and other genital malformations did not appreciably change the associations (ORs: 3.16, 2.25, 1.30 and 1.90, respectively). The other (nongenital) malformations evaluated were not associated with TGCT. These data suggest that developmental urogenital abnormalities, specifically cryptorchidism, hypospadias and inguinal hernia, are associated with an increased risk of TGCT, further supporting the hypothesis that prenatal exposure(s) related to proper genital development are related to this tumor. PMID:23580254

Trabert, Britton; Zugna, Daniela; Richiardi, Lorenzo; McGlynn, Katherine A; Akre, Olof

2013-05-15

29

[Socioeconomic status and risk of congenital malformations].  

UK PubMed Central (United Kingdom)

OBJECTIVE: to analyse the relationship between socioeconomic factors and the prevalence at birth of a selected group of congenital malformations (CM): neural tube defects (NTD), orofacial clefts (OFC), Down syndrome (DS). DESIGN: matched case-control study. The aim of the study was to compare the parental socioeconomic status of 485 children affected by one of the selected congenital malformations with an appropriate control group, using both a synthetic index, as well as comparing each socioeconomic characteristic. Socioeconomic measures included maternal and paternal education and employment. SETTING: Delivery certificate database from 18 Italian regions, years 2002-2003. MAIN OUTCOME MEASURES: odds ratio (OR) measuring the association between the presence at birth of specific CMs and socioeconomic factors, estimated through logistic regression models. RESULTS: the study showed a higher risk for NTD (OR 2.73; 95% CI 1.36-5.50) and OFC (OR 1.18; 95% CI 1.05-1.33)for parents in a low social class. As well, the estimated risk of DS is slightly higher, though not statistically significant (OR 1.08; 95% CI 0.98-1.19). Among the socioeconomic variables taken into consideration, the mother's education level represented a significant risk factor associated with OFC occurrence. CONCLUSION: the results suggested that the socioeconomic level may represent a selective risk factor for specific CMs, confirming the role that social inequalities have on health, in particular on reproductive health. Such evidences should be considered when programming specific actions aimed at preventing congenital malformations.

Rosano A; Del Bufalo E; Burgio A

2008-01-01

30

Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.  

UK PubMed Central (United Kingdom)

A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed.

Roosen N; De Moor J

1984-05-01

31

Cervicobrachialgia with congenital vertebral anomalies and diastematomyelia.  

Science.gov (United States)

A case of diastematomyelia in an adult female patient is reported. The relationship of the cervicobrachialgia, which was the presenting sign, to the diastematomyelia and the congenital vertebral anomalies is discussed. PMID:6710330

Roosen, N; De Moor, J

1984-05-01

32

Malformações pulmonares congênitas/ Congenital lung malformations  

Scientific Electronic Library Online (English)

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

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

2011-04-01

33

Malformações pulmonares congênitas Congenital lung malformations  

Directory of Open Access Journals (Sweden)

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

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

2011-01-01

34

The law and congenital malformations.  

UK PubMed Central (United Kingdom)

In 1967, I indicated that the number of lawsuits involving malformed infants seemed to be increasing, not realizing that the increase was foretelling an epidemic. The reasons for this epidemic are described in this paper and are due to attitudes and happenings in the medical, legal, and lay sectors of our society. Case histories have been used to demonstrate that the litigation process can produce pain and suffering. The case histories also indicate that, when the members of family become orchestrated by a lawyer into the position of devoting a great deal of their energy to litigation, many high priority family responsibilities are ignored and important ethical standards are distorted. To win at all costs may be good for a football team, but it is obviously bad for a family. We must take drastic changes in the method of supporting the victims of disease and injury so that litigation is no longer necessary to compensate and support patients and families, whether negligence is or is not a factor. Recommendations for diminishing the malpractice crises include: education of the patient about the consequences of the litigation process--that only a small portion of the malpractice premium dollar ever reaches the patient and that most human malformations are not produced by medical negligence, altering the deteriorating image of the physician, reversing the increase in irresponsible medical expert testimony and changing the laws pertaining to medical licensure and loss of medical licensure, improving the health care system, making the awards more realistic by taking into consideration community and insurance resources of the patient and by eliminating lump sum awards and "punitive" awards, decreasing lawyer representation in legislative bodies so that legal reforms will become a possibility, and eliminating the contingency fee system by replacing it either with legal insurance so that the attorney is working for the patient or by adopting no-fault malpractice insurance with binding arbitration so that the negligently injured patient is compensated properly. The process of litigation rarely solves the patient's problems and frequently develops into a disease all its own.

Brent RL

1986-09-01

35

METHODS TO DIAGNOSE CONGENITAL MALFORMATIONS IN NEWBORNS  

Directory of Open Access Journals (Sweden)

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

Daniela Iacob; RE Iacob; Marioara Boia; C Ilie; Aniko Manea

2009-01-01

36

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

The VATER/VACTERL association is a syndrome notable for congenital vertebral malformations, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, and renal or limb malformations. Vertebral malformations may include the entire spectrum of congenital spinal deformities...

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

37

Congenital Malformation Prevalence in Cluj District between 2003-2007  

Directory of Open Access Journals (Sweden)

Full Text Available Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and Method: The study was retrospective and was carried on for a period of five years (2003-2007) based on medical records and on laboratory results, (especially those for TORCH screening: toxoplasmosis, rubella, cytomegalovirus, and herpes virus). Results: Major structural anomalies were present at 39.51% (388 cases) of 982 patients which were registered in Genetic Pathology Center from Pediatric Clinics I, Cluj-Napoca. Diagnosed abnormalities included: congenital malformations of circulatory, respiratory, digestive, central nervous system, congenital malformations of skeletal system, Down syndrome, which is consistent with results of other studies showing that the most common are heart abnormalities (33.06%), followed in descending order of frequency by urinary, genital, CNS, skin, oral-facial cleft and digestive anomalies. Conclusions: Early detection of major malformation during early pregnancy can indicate for medical termination of pregnancy to reduce the high morbidity and mortality of neonates due to congenital malformations. So proper and timely counselling, regular antenatal care with folate supplementation especially during the most sensitive period of embryogenesis is essential to avoid major congenital malformation for future pregnancy.

Rodica RADU; Anamaria MOLNAR; Tudor MÎRZA; ?tefan I. ?IGAN

2009-01-01

38

Open resections for congenital lung malformations  

Directory of Open Access Journals (Sweden)

Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M) underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years). The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.

Mullassery Dhanya; Jones Matthew

2008-01-01

39

[Congenital malformation of the ear associated with secretory otitis media  

UK PubMed Central (United Kingdom)

The authors presented a child with congenital malformation of the ear in whom secretory otitis media (SOM) was discovered during an operation. Histological analysis of the mucous membrane showed an advanced phase of the disease.

Savi? D; Djeri? D; Stevanovi? G

1989-01-01

40

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations  

International Nuclear Information System (INIS)

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

1986-01-01

 
 
 
 
41

Radiodiagnostic procedure in congenital arterio-venous malformations  

Energy Technology Data Exchange (ETDEWEB)

In the present study an effective concept for the diagnosis of congenital arteriovenous malformations is described. The analysis comprehends 43 patients. With regard to the described procedure and additional clinical dates the diagnosis of an arteriovenous malformation can be assured. A subtile angiographic technique is of special value.

Langer, M.; Langer, R.; von Dewitz, H.

1981-09-01

42

Socio- Cultural Variables Of Congenital Malformation In Newborns  

Directory of Open Access Journals (Sweden)

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

Khan Zulfia; Pattnayak U; Ahmed A.J; Zaheer M

1997-01-01

43

Spitz nevus arising upon a congenital glomuvenous malformation.  

UK PubMed Central (United Kingdom)

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

Arica DA; Arica IE; Yayli S; Cobanoglu U; Akay BN; Anadolu R; Bahadir S

2013-05-01

44

Congenital spinal lipomatous malformations: part I--Classification.  

UK PubMed Central (United Kingdom)

BACKGROUND: Congenital spinal lipomatous malformations constitute a diverse group of lesions. There is considerable confusion in the literature regarding their terminology and a proper classification is long overdue. The first part of this two part report sets out a proposed classification scheme. METHODS: On the basis of this author's experience with 80 patients with a congenital spinal lipomatous malformation treated over a 10 year period, a new classification is proposed. The proposed classification divides congenital spinal lipomatous malformations into two broad groups: 1. Lipomas without dural defect and, 2. Lipomas with dural defect. Within each group, there are several subtypes. These two broad groups differ from one another in their embryology, clinical presentation, operative findings, complications and prognosis FINDINGS: Group I consists of Lipomas without dural defect. Included in this group are: Filum lipoma, caudal lipoma without dural defect, and intramedullary lipoma. Group II consists of lipomas with dural defect. Included in this group are: dorsal lipoma, caudal lipoma with dural defect, transitional lipoma, lipomyelocele, and lipomyelomeningocele. The definitions of the various subtypes and radiological and operative findings of all these lesions are described. CONCLUSIONS: Congenital spinal lipomatous malformations constitute a wide spectrum of lesions ranging from relatively simple lipomas of the filum terminale to complex malformations. These lesions differ from one another in their embryology, clinical presentation, operative strategies, complications and prognosis. Failure to differentiate between the different forms of congenital spinal lipomatous malformations may lead to inaccurate assumptions regarding prognosis and inappropriate management. The proposed classification seeks to address these issues.

Muthukumar N

2009-03-01

45

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)

46

Angiographic findings of congenital vascular malformation in soft tissue  

Energy Technology Data Exchange (ETDEWEB)

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

Choi, Dae Seob; Park, Jae Hyung; Han, Joon Koo; Chung, Jin Wook; Moon, Woo Kyung; Han, Man Chung [Seoul National University, College of Medicine, Seoul (Korea, Republic of)

1994-01-15

47

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

48

Congenital Malformations in Neonates after irradiation of Rats During Pregnancy  

International Nuclear Information System (INIS)

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

2000-01-01

49

Congenital inner ear malformations without sensorineural hearing loss in children.  

UK PubMed Central (United Kingdom)

Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

Ozeki M; Kato Z; Sasai H; Kubota K; Funato M; Orii K; Kaneko H; Fukao T; Kondo N

2009-10-01

50

Comment: valproate dose effects differ across congenital malformations.  

Science.gov (United States)

Fetal valproate exposure has been associated with the highest risk of congenital malformations among antiepileptic drugs.(1) Valproate's effect is dose-dependent(1) and has been associated with multiple specific malformations.(2,3) Vadja et al.(4) examined data from the Australian Pregnancy Registry (1999-2012 data), which included 1,705 pregnancies with 436 valproate exposures.(4) They found that the use and dosages of valproate have fallen over the last 5 years. The rates of spina bifida and hypospadius in those exposed dropped with reducing dosages of valproate, but the rates of other malformations did not. Mean dosages for malformations were higher for spina bifida (2,000 mg/d) and hypospadius (2,417 mg/d) than all other malformations (1,083 mg/d). PMID:23911754

Meador, Kimford J

2013-08-02

51

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

52

Late Presentation of a Congenital Intrinsic Duodenal Obstruction in a Patient with Anorectal Malformation  

Directory of Open Access Journals (Sweden)

Full Text Available Anorectal Malformations are known to be associated with various other congenital anomalies including duodenal atresia. An association of congenital intrinsic duodenal obstruction causing partial duodenal obstruction in a patient with anorectal malformation is not described in literature. We describe a case of delayed presentation of congenital intrinsic duodenal obstruction in a child with high-type anorectal malformations causing diagnostic dilemma.

Parkash Mandhan; Kirtikumar J. Rathod; Dilip Sankhla

2013-01-01

53

Atlantoaxial rotatory fixation in the setting of associated congenital malformations: a modified classification system.  

UK PubMed Central (United Kingdom)

STUDY DESIGN: A case report. OBJECTIVE: To raise awareness of the development of atlantoaxial rotatory fixation (AARF) in the setting of congenital vertebral anomalies/malformations. SUMMARY OF BACKGROUND DATA: Klippel-Feil Syndrome (KFS) is a complex, heterogeneous condition noted as congenital fusion of 2 or more cervical vertebrae with or without spinal or extraspinal manifestations. Although believed to be a rare occurrence in the population, KFS may be underreported. Proper diagnosis of KFS and other congenital conditions affecting the spine is imperative to devise proper management protocols and avoid potential complications resulting from the altered biomechanics associated with such conditions and their abnormal vertebral morphology. Craniovertebral dislocation and AARF may cause severe cervicomedullary and spinal cord compression and could thereby be potentially fatal, especially in patients with KFS who present with congenitally-associated comorbidities. METHODS: A 13-year-old boy with Chiari type I malformation, craniofacial abnormalities, and other irregularities underwent thoracolumbar spine surgery for his scoliosis curve correction at another institution, which immediately following surgery he became a quadriparetic. The initial preoperative assessment of his cervical spine was limited and the associated KFS was initially undiagnosed. At 14 years of age, he presented to our clinic with an ASIA-C spinal cord injury. Plain radiographs, normal and 3-dimensional reformatted computed tomographs (CT), and magnetic resonance imaging (MRI) noted assimilation of the patient's occiput to the atlas (occipitalization) with congenital fusion of C2-C3, indicative of KFS, and the presence of anterior craniovertebral dislocation with a Fielding and Hawkins type II AARF. Closed reduction of the craniovertebral dislocation was noted, but his atlantoaxial rotatory subluxation was nonresponsive and fixed (AARF). As such, at the age of 14, the patient underwent posterior instrumentation and fusion from the occiput to C4 to maintain reduction of thecraniovertebral dislocation and reduce his AARF. RESULTS: At 9 months postoperative follow-up of his craniovertebral surgery, the instrumentation remained intact, reduction of the atlantoaxial rotatory subluxation was maintained, and posterior bone fusion was noted. Neurologically, he remained an ASIA-C without any substantial return of function. CONCLUSION: This report raises awareness for the need of a thorough evaluation of the cervical spine to determine patients at high risk for craniovertebral dislocation and atlantoaxial rotatory subluxation, primarily in the context of KFS or other congenital conditions. Three-dimensional CT and MR imaging are ideal radiographic methods to determine the presence and extent of craniovertebral dislocation, AARF, and of abnormal vertebral anatomy/malformations. In addition, the authors propose a modification to the Fielding and Hawkins classification of AARF to include variants and subtypes that account for abnormal anatomy and congenital anomalies/malformations.

Samartzis D; Shen FH; Herman J; Mardjetko SM

2010-02-01

54

Endoscopy of the uterus and its congenital malformations.  

UK PubMed Central (United Kingdom)

Laparoscopy and hysteroscopy are two endoscopic procedures with which the outer surface of the uterus, its cavity can be studied with a detailed analysis of the endometrium and ostia. The stages of the study are described and uterine congenital malformations are described in relation to the reproductive performance of women.

Cinque B; Palla G; De Marco C

1998-10-01

55

Role of rubella in congenital malformations in India.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

In the present study rubella HI antibodies were determined in cases of congenital malformation and bad obstetric history to determine the role of rubella in such cases in India, as it has been reported to be rare in Japan in contrast to Western countries. The incidence of antibodies was statisticall...

Chaturvedi, U. C.; Tripathi, B. N.; Mathur, A.; Singh, U. K.; Mehrotra, R. M.

56

[Congenital malformations of the external and middle ear].  

UK PubMed Central (United Kingdom)

Congenital malformations of the external and middle ear is the common reason of pediatric hearing impairment and cosmics problem. The treatment composes of auricular plastic surgery and auditory reconstruction surgery. The use of BAHA, vibrant sound-bridge and tissue engineering materials can significantly improve the treatment outcomes.

Wang Z; Yang J; Wu H

2013-07-01

57

Genetic causes of congenital brain malformations in epilepsy patients  

DEFF Research Database (Denmark)

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

MØller, Rikke Steensbjerre

2008-01-01

58

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; RE Iacob

2010-01-01

59

Congenital renal arteriovenous malformations in infancy  

International Nuclear Information System (INIS)

[en] 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

60

Thromboembolism and congenital malformations: from Duane syndrome to thalidomide embryopathy.  

UK PubMed Central (United Kingdom)

OBJECTIVE: To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. METHODS: Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis.Results: Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. CONCLUSIONS: Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

Parsa CF; Robert MP

2013-04-01

 
 
 
 
61

Thromboembolism and Congenital Malformations: From Duane Syndrome to Thalidomide Embryopathy.  

UK PubMed Central (United Kingdom)

OBJECTIVE To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. METHODS Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. RESULTS Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to-left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. CONCLUSIONS Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.

Parsa CF; Robert MP

2012-12-01

62

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

UK PubMed Central (United Kingdom)

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

Li NN; Yuan YM; Liu Y; Dai L; Deng CF; Nie XH; Zheng XC; Hu YZ; Liu YR

2013-07-01

63

[Cases of congenital eye malformations in children].  

UK PubMed Central (United Kingdom)

PURPOSE: The aim of this work was to present a clinical picture of congenital defects in the anterior and posterior segment of the eye and coexisting systemic developmental anomalies in a group of children during the infantile period. MATERIAL AND METHODS: We performed a retrospective analysis in a group of 1507 infants seen at our outpatient ophthalmology clinic in 2006-2010. Attention was focused on case histories of nine children (0.6%) with congenital defects of the eye. A routine ophthalmologic examination was done and photographs of the anterior and posterior segment of the eye were archived with the Ret - Cam II apparatus. Maternal risk factors during pregnancy and the perinatal period were analyzed, as well as genetic, familial, infectious, traumatic, metabolic, and toxic factors, and drugs which could have contributed to the pathology of the organ of vision. Additionally, congenital polydysplasia was confirmed using ultrasonography, radiography, and imaging techniques (USG, X-ray, MRI). RESULTS: Congenital anomalies of the anterior and posterior segment of the eye were identified in the study group. Abnomalities of the anterior segment of the eye in four infants were in the form of congenital corneal anomalies (keratopathy, microcornea, sclerocornea, congenital mesenchymal dysgenesis), coloboma of the iris, and aniridia. Additionally, ectopic pupil, congenital cataract, aplasia of the lacrimal point, and palpebral coloboma were observed. Developmental anomalies of the posterior segment of the eye in the form of persistent hyperplastic primary vitreous body or primary fetal vasculature syndrome (PHVB or PFVS), choroid coloboma, coloboma of the optic nerve, and optic disc fovea were recognized in eight children. Anomalies of the anterior and posterior segment of the eye were observed in three children and were associated with microphthalmia, nystagmus, and strabismus. Moreover, systemic anomalies coexisting with ophthalmologic defects were confirmed in 6 children. They were seen in the heart (patent ductus arteriosus (PDA), patent foramen ovale (Pfo), atrial septal defect (ASD), nervous system (aplasia of the corpus callosum, hydrocephalus), osteoarticular system (talipes equinovarus, bifurcate rib, butterfly vertebra, dysmorphic splanchnocranium, contracture of the fingers), genitourinary system (cryptorchism, Wilms' tumor, vesicoureteral reflux grade IV), auditory organ (microtia, aplasia of the external auditory meatus, tympanic cavity, and internal ear), and skin (telangiectasia, syndactyly, appendages, and vegetations). Genetic tests revealed one case of an abnormal karyotype (49, XXXXX). Infections, metabolic disorders, and intoxications were excluded as the background for the anomalies. CONCLUSIONS: The finding of a congenital eye anomaly should be followed by a search for other systemic anomalies. Developmental anomalies of the eye and other organs will require a multidisciplinary approach to treatment and care.

Modrzejewska M; Lachowicz E; Karczewicz D

2011-01-01

64

The incidence of congenital malformations in children with cancer.  

UK PubMed Central (United Kingdom)

We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages was 12.6%, and family history of cancer was positive in 31.2%. Median age at cancer diagnosis, gender, maternal age, history of stillbirth and missed abortion, consanguinity of parents, and family history of cancer were not significantly different in cases with and without a congenital malformation. The most frequent cancers were central nervous system tumors and lymphomas. No remarkable association between a particular anomaly and a specific cancer type could be shown. The high incidence of congenital anomalies in this study may stimulate future large cohort studies in our country.

Mutafo?lu-Uysal K; Günes D; Tüfekçi O; Kalelihan-Cankal A; Sarialio?lu F; Olgun N

2009-09-01

65

The incidence of congenital malformations in children with cancer.  

Science.gov (United States)

We evaluated the incidence of congenital malformations in 566 children (median age: 8, M:F 1.3) with lymphomas and solid tumors using patient records. In this study, 12.7% of children either had a congenital malformation (7.8%) or a birthmark (4.9%). The incidence of patients with a childhood cancer syndrome was 3% and these cases developed typical tumors. The rate of consanguineous marriages was 12.6%, and family history of cancer was positive in 31.2%. Median age at cancer diagnosis, gender, maternal age, history of stillbirth and missed abortion, consanguinity of parents, and family history of cancer were not significantly different in cases with and without a congenital malformation. The most frequent cancers were central nervous system tumors and lymphomas. No remarkable association between a particular anomaly and a specific cancer type could be shown. The high incidence of congenital anomalies in this study may stimulate future large cohort studies in our country. PMID:20112599

Mutafo?lu-Uysal, Kamer; Günes, Dilek; Tüfekçi, Ozlem; Kalelihan-Cankal, Aydan; Sarialio?lu, Faik; Olgun, Nur

66

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

67

[Ultrasound in the diagnosis of congenital malformations of the brain  

UK PubMed Central (United Kingdom)

After the work published by Kossof (1974), on the use of ultrasound for the study of trans-sectional cuts in the brain of newborns, the technic has been widely used in the exploration of this organ. This study evaluates the use of ultrasound in the diagnosis of congenital malformations of the brain in 11 patients seen during a period of 3 years at a regional hospital of southern Chile. The classification introduced by Beberly and Zimmerman was used in order to ascribe each case to a correspondent phase of organogenesis. Recent studies over the advantages of ultrasound for the detection of congenital malformations of the brain have resulted in the replacement of traditional invasive methods by ultrasonography for the evaluation of these problems.

Busel D; Villarroel M

1989-03-01

68

Behavioral effects of congenital ventromedial prefrontal cortex malformation  

Directory of Open Access Journals (Sweden)

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

Boes Aaron D; Grafft Amanda; Joshi Charuta; Chuang Nathaniel A; Nopoulos Peg; Anderson Steven W

2011-01-01

69

Antidepressant exposure during early pregnancy and congenital malformations  

DEFF Research Database (Denmark)

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

Pedersen, Lars Henning

70

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

Directory of Open Access Journals (Sweden)

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

Daniela Iacob; RE Iacob; Marioara Boia; Aniko Manea; Mirabela Dima

2006-01-01

71

Transgenerational transmission of radiation damage. Genomic instability and congenital malformation  

International Nuclear Information System (INIS)

[en] 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)

2005-03-19

72

Late presentation of congenital cystic adenomatoid malformation of the lung  

Energy Technology Data Exchange (ETDEWEB)

Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

Hulnick, D.H.; Naidich, D.P.; McCauley, D.I.; Feiner, H.D.; Avitabile, A.M.; Greco, M.A.; Genieser, N.B.

1984-06-01

73

Late presentation of congenital cystic adenomatoid malformation of the lung  

International Nuclear Information System (INIS)

Although most often recognized in neonates and young children, congenital cystic adenomatoid malformation of the lung (CCAM) occasionally appears in later years. Three patients, aged 35, 24, and 7 years, are reported. Chest radiographs in each case suggested a localized patchy density, a cystic mass, or a multicystic mass, but computed tomography (CT) best demonstrated the cystic and solid components while ruling out bronchiectasis or major bronchial obstruction. Bronchography contributed no further diagnostic information compared with CT. Each patient underwent lobectomy. Histologically, the characteristic overgrowth of bronchiolar elements replacing normal parenchymal architecture was accompanied by some superimposed inflammatory change.

1984-01-01

74

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

Directory of Open Access Journals (Sweden)

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

Abdullah A. Alabdulgader

2012-01-01

75

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.  

Science.gov (United States)

Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases. PMID:23314839

Eid, Tony; Ghostine, Bachir; Kreichaty, Gaby; Daher, Paul; Ghanem, Ismat

2013-01-12

76

Congenital costo-vertebral fibrous band and congenital kyphoscoliosis: a previously unreported combination.  

UK PubMed Central (United Kingdom)

Congenital kyphoscoliosis (CKS) results from abnormal vertebral chondrification. Congenital fibrous bands occur in several locations with variable impact on vertebral development. We report a previously unreported case of a female infant with CKS presenting with an L2 hypoplastic vertebra and a costo-vertebral fibrous band extending to the skin in the form of a dimple. We also describe the therapeutic approach, consisting of surgical excision of the fibrous band and postoperative fulltime bracing, with a 7-year follow-up. We recommend a high index of suspicion in any unusual presentation of CKS and insist on case by case management in such cases.

Eid T; Ghostine B; Kreichaty G; Daher P; Ghanem I

2013-05-01

77

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

UK PubMed Central (United Kingdom)

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.

Kalyani R; Bindra MS; Mahansetty H

2013-02-01

78

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

79

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

Directory of Open Access Journals (Sweden)

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

Julio Nazer Herrera; Moira García Huidobro; Lucía Cifuentes Ovalle

2005-01-01

80

Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review  

Science.gov (United States)

Summary Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion. This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities.

Di Prima, Fosca Antonia Francesca; Bellia, Adriano; Inclimona, Genny; Grasso, Francesco; Teresa, Maria; Cassaro, Meli Nazario

2012-01-01

 
 
 
 
81

Antenatally diagnosed congenital cystic adenomatoid malformations (CCAM): Research Review.  

UK PubMed Central (United Kingdom)

Prenatal identification of lung abnormalities has increased with prenatal surveillance. With the advent of improved antenatal imaging over the past ten years, the diagnosis, assessment and management of congenital cystic lung abnormalities have changed. These were once considered the exclusive domain of the surgeon, who had the authority to operate on all congenital cystic lung abnormalities regardless of size or clinical signs in order to avoid the risk of cancer and improve lung growth in even asymptomatic infants. Clinicians are reconsidering this approach in the light of the spontaneous improvement and possible resolution that occurs over months to years with many of these lesions, thinking about the opportunity to take a more conservative approach in many minimally symptomatic or asymptomatic infants in the early months of life. The risks of subsequent cancer are poorly understood and probably overstated. Many centers advocate surgery only in cases of symptomatic or significant lesions, although there is little consensus as to what constitutes a significant lesion.This article will review current knowledge (classification, pathogenesis, genetics, prenatal evaluation, clinical implications) on congenital cystic adenomatoid malformations (CCAM) and discuss management options for young children with these lung abnormalities.

Di Prima FA; Bellia A; Inclimona G; Grasso F; Teresa M; Cassaro MN

2012-04-01

82

Type II congenital cystic pulmonary malformation in an esophageal lung.  

UK PubMed Central (United Kingdom)

A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

Martínez-Martínez BE; Furuya ME; Martínez-Muñiz I; Vargas MH; Flores-Salgado R

2013-05-01

83

Is radical lobectomy required in congenital cystic adenomatoid malformation?  

UK PubMed Central (United Kingdom)

BACKGROUND: The extent of surgical resection in the management of congenital cystic adenomatoid malformation (CCAM) located in 1 pulmonary lobe remains controversial. Although lobectomy seems to be the best treatment to avoid recurrent pulmonary infection and neoplasia, neither retrospective nor prospective studies have been done to our knowledge. Besides, many reports claim that there are advantages of parenchyma-saving resections. The aim of our study was to determine whether it was necessary to perform an extended resection in these cases. MATERIALS AND METHODS: We retrospectively reviewed all patients who had undergone a thoracoscopic lobectomy for CCAM located to 1 pulmonary lobe between January 2007 and January 2009. A thoracic radiologist performed a single blind review of all preoperative computed tomographic (CT) scans, mentioning the presence or absence of distant lesions from the main cysts of CCAM within the pulmonary lobe. The pathologist who analyzed the pulmonary lobectomy specimen was aware of the diagnosis but not the CT report. RESULTS: Twenty-five patients underwent thoracoscopic lobectomy for congenital lung malformations, including 12 with CCAM. All had a positive prenatal sonogram. The median age at surgery was 12 months (range, 2-24 months). The preoperative CT showed only 2 cases with distant lesions within the affected pulmonary lobe, whereas the histologic study of the surgical specimen identified 6 cases. The sensitivity of the CT scan was low, 33%, whereas its specificity was high, 100%. Furthermore, the preoperative CT negative predictive value was 60%. The median time of follow-up was 7.5 months. CONCLUSION: Adequate treatment of CCAM in children requires a lobectomy because of poor sensitivity and very poor negative predictive value (60%) of the preoperative CT to determine distal adjacent lesions. A prospective study on a larger number of patients is required to confirm these observations.

Muller CO; Berrebi D; Kheniche A; Bonnard A

2012-04-01

84

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

UK PubMed Central (United Kingdom)

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

Chikkannaiah P; Kangle R; Hawal M

2013-07-01

85

[Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile (1988-1998)  

UK PubMed Central (United Kingdom)

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.

Aguila A; Nazer J; Cifuentes L; Mella P; de la Barra P; Gutiérrez D

2000-02-01

86

Infants with congenital limb reduction registered in the Swedish Register of Congenital Malformations.  

UK PubMed Central (United Kingdom)

Limb reduction defects reported to the Swedish Register of Congenital Malformations 1965-1979 have been analyzed from a monitoring point of view. The infants were first studied with respect to the site of reduction malformation and the simultaneous presence of more than one such reduction site. Reductions often occurring together were thought to have a common pathogenesis (etiology) and were therefore treated as one unity although some such groups (e.g., radial longitudinal reductions) are probably heterogeneous. The material was therefore divided into 11 subgroups; the eleventh is represented by infants with more than one unrelated reduction. Maternal age distribution was approximately normal. There is a male preponderance of all reduction types. In the whole group, 20% of the infants died perinatally, but this percentage was higher for some groups (e.g., amelia/phocomelia) than for others (e.g., amputations and unspecific hand/foot reductions). In more than 30% of the infants, nonlimb malformations were also present. Such infants showed the highest death rate of all. The infants had a lower than expected birth weight (gestational length was not known). The time trends for the various subgroups differed. Amelia/phocomelia declined in frequency but the unspecific hand/foot reductions showed a marked increase during the last few years, possibly owing to better ascertainment. The significance of monitoring reduction malformations as smaller subgroups is stressed, as marked changes may occur within a subgroup without a noticeable change in the total number of reductions.

Källén B; Rahmani TM; Winberg J

1984-02-01

87

Congenital pulmonary airway malformation: a case report and review of the literature.  

UK PubMed Central (United Kingdom)

Congenital parenchymal lung malformations have an estimated incidence at 1:25,000-1:35,000 births. We present a case of this rare congenital abnormality in a 38 year-old male, review the current literature with discussion of proposed causes, malignant potential, and management strategies. A 38-year-old white male presented with a 4-day history of chronic stable hemoptysis. Social history was notable for a 50-pack-year active smoking history and remote heavy alcohol consumption. Physical examination was normal. Chest radiograph revealed an ill defined right lower lobe infiltrate. Chest computed tomography demonstrated an irregular, thin-walled, cystic lesion with adjacent nodularity and calcifications. The patient received a right lower lobectomy. Pathologic specimen demonstrated a 10-cm, mostly thin-walled cyst with features suggestive of a congenital cyst adenomatoid malformation and areas of adenocarcinoma (mixed subtype with acinar and bronchioloalveolar patterns). Congenital cyst adenomatoid malformations have recently been renamed as congenital pulmonary airway malformations and are the most common type of congenital parenchymal lung malformations. Individuals typically present with recurrent pulmonary infections, pneumothorax, or hemoptysis. The development is controversial but believed to be a result of arrested development of the fetal bronchial tree during the sixth and seventh week of fetal development. Defects in thyroid transcription factor 1 have also been proposed. With the increasing use and image resolution of ultrasound in modern obstetric practice, congenital pulmonary airway malformations rarely go undetected into adulthood. Management remains controversial; however, most authors agree with early surgical excision.

McDonough RJ; Niven AS; Havenstrite KA

2012-02-01

88

Congenital pulmonary airway malformation: a case report and review of the literature.  

Science.gov (United States)

Congenital parenchymal lung malformations have an estimated incidence at 1:25,000-1:35,000 births. We present a case of this rare congenital abnormality in a 38 year-old male, review the current literature with discussion of proposed causes, malignant potential, and management strategies. A 38-year-old white male presented with a 4-day history of chronic stable hemoptysis. Social history was notable for a 50-pack-year active smoking history and remote heavy alcohol consumption. Physical examination was normal. Chest radiograph revealed an ill defined right lower lobe infiltrate. Chest computed tomography demonstrated an irregular, thin-walled, cystic lesion with adjacent nodularity and calcifications. The patient received a right lower lobectomy. Pathologic specimen demonstrated a 10-cm, mostly thin-walled cyst with features suggestive of a congenital cyst adenomatoid malformation and areas of adenocarcinoma (mixed subtype with acinar and bronchioloalveolar patterns). Congenital cyst adenomatoid malformations have recently been renamed as congenital pulmonary airway malformations and are the most common type of congenital parenchymal lung malformations. Individuals typically present with recurrent pulmonary infections, pneumothorax, or hemoptysis. The development is controversial but believed to be a result of arrested development of the fetal bronchial tree during the sixth and seventh week of fetal development. Defects in thyroid transcription factor 1 have also been proposed. With the increasing use and image resolution of ultrasound in modern obstetric practice, congenital pulmonary airway malformations rarely go undetected into adulthood. Management remains controversial; however, most authors agree with early surgical excision. PMID:21762550

McDonough, Ryan J; Niven, Alexander S; Havenstrite, Keith A

2011-07-12

89

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

Directory of Open Access Journals (Sweden)

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

Julio Nazer H; Rodrigo Ramírez F

2000-01-01

90

ECLAMC: the Latin-American collaborative study of congenital malformations.  

UK PubMed Central (United Kingdom)

DEFINITION: ECLAMC ('Estudio Colaborativo Latino Americano de Malformaciones Congenitas') is a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Latin-American hospitals, using a case-control methodological approach. It is a voluntary agreement among professionals lacking institutional base as well as designated budgets. ECLAMC has been usually funded by research-funding agencies rather than public health ministries. The National Research Councils of Argentina and Brazil have been the main sources of support during its 36 years of existence. Since vital and health statistics are unreliable in South America, ECLAMC collects all the information required for the denominators in a hospital-based sample of births. ECLAMC can be defined as a continental network of persons interested in research and prevention of birth defects. HISTORY AND EVOLUTION: From the institutional point of view, ECLAMC has had headquarters in diverse centers of Argentina and Brazil, but always as an independent research project, without a defined administrative link. ECLAMC began operating in 1967, as an investigation limited to the city of Buenos Aires, Argentina, and it gradually expanded until covering all the 10 countries of South America as well as Costa Rica and the Dominican Republic. Even though ECLAMC has maintained essentially the same original experimental design since 1967, due to the data accumulated by the program, the increasing experience as well as the development in science, technical modifications occurred including a DNA bank and a fully informatized data handling system. Since 1974 ECLAMC has been a founder member of the International Clearinghouse for Birth Defects Monitoring Systems; since 1994 a WHO Collaborating Center for the Prevention of Congenital Malformations, and since 2000 a collaborating member of the NIH Global Netwok for Women's and Children's Health Research. METHODOLOGY: The maternity hospital network of ECLAMC examines around 200,000 births per year. All major and minor anomalies diagnosed at birth in infants weighing 500 g or more are registered according to a manual of procedures. The next non-malformed baby of the same sex born in the same hospital is selected as a control subject for each case. Thus, a one-to-one healthy control group matched by sex, time and place of birth is obtained. As a system of epidemic surveillance, ECLAMC systematically observes the fluctuations in the frequencies of different malformations and, in the case of an alarm for a probable epidemic of a given malformation, at a given moment, and given area, it acts to identify its cause. As termination of pregnancy has severe legal restrictions in South America, prevention of birth defects should concentrate on primary, preconceptional and tertiary measures. Tertiary measures aim to avoid complications of the affected patients from the medical, psychological, and social standpoints.

Castilla EE; Orioli IM

2004-01-01

91

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

UK PubMed Central (United Kingdom)

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

Druschel C; Hughes JP; Olsen C

1996-07-01

92

Advanced echocardiographic imaging of the congenitally malformed heart.  

UK PubMed Central (United Kingdom)

There have been significant advancements in the ability of echocardiography to provide both morphological and functional information in children with congenitally malformed hearts. This progress has come through the development of improved technology such as matrix array probes and software which allows for the off line analysis of images to a high standard. This article focuses on these developments and discusses some newer concepts in advanced echocardiography such is multi-planar reformatting [MPR] and tissue motion annular displacement [TMAD]. Our aim is to discuss important aspects related to the quality and reproducibility of data, to review the most recent published data regarding advanced echocardiography in the malformed heart and to guide the reader to appropriate text for overcoming the technical challenges of using these methods. Many of the technical aspects of image acquisition and post processing have been discussed in recent reviews by the authors and we would urge readers to study these texts to gain a greater understanding [1]. The quality of the two dimensional image is paramount in both strain analysis and three dimensional echocardiography. An awareness of how to improve image quality is vital to acquiring accurate and usable data. Three dimensional echocardiography (3DE) is an attempt to visualise the dynamic morphology of the heart. Although published media is the basis for theoretical knowledge of how to practically acquire images, electronic media [eg.www.3dechocardiography.com] is the only way of visualising the advantages of this technology in real time. It is important to be aware of the limitations of this technology and that much of the data gleaned from using these methods is at a research stage and not yet in regular clinical practice.

Black D; Vettukattil J

2013-08-01

93

Malformaciones congénitas y exposición a pesticidas Congenital malformations and pesticide exposure  

Directory of Open Access Journals (Sweden)

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

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

2000-01-01

94

Epidemiology of major congenital malformations with specific focus on teratogens.  

UK PubMed Central (United Kingdom)

Background: Major congenital malformations (MCMs) are a significant cause of infant morbidity and mortality and constitute an important societal and economic burden. Methods: We conducted a literature review to synthesize current evidence on MCMs. Specific objectives were to: 1) summarize internationally reported prevalence of MCMs based on registries and surveillance systems; 2) describe the epidemiology of different MCM types including critical periods and causative factors; 3) to identify the role played by principal known teratogens on the increase in the risk of MCMs; and 4) determine challenges associated with the epidemiologic assessment of potential risk factors for MCMs as well as potential preventive measures. Results: It is estimated that 7.9 million infants worldwide are born every year with a MCM, yet there is considerable variation in reported rates across countries. This may be attributable to varying definitions arising from heterogeneity among different classes with respect to critical periods for embryogenesis and organogenesis. There is also substantial etiologic heterogeneity among MCMs classes that potentially contribute to challenges in epidemiologic studies. Modifiable factors such as pharmacologic exposures have received considerable attention and a number of drugs have been shown to be teratogenic including folic acid antagonists, angiotensin converting enzyme inhibitors, antidepressants, anticonvulsants, coumarin derivatives and retinoids including isotretinoin. Conclusion: The majority of MCMs are due to unexplained causes. Other contributing factors include genetics, environmental factors, multifactorial inheritance, maternal-related conditions, and maternal drug or chemical exposure. However, there remains a need to better understand the epidemiology of MCMs when studying drug effect during gestation.

Chaabane S; Berard A

2013-07-01

95

[Analysis of correlation between congenital auricular deformities and middle ear malformations].  

UK PubMed Central (United Kingdom)

OBJECTIVE: To explore the potential value of knowing the relationship between congenital auricular deformities and middle ear malformations. METHODS: A total of 86 patients with congenital auricular deformities and middle ear malformations, including 51 males and 35 females, were admitted from January 2008 to December 2009 to the Eye Ear Nose and Throat Hospital of Fudan University. Fifty-eight patients had unilateral deformities (R:L = 34:24), while 28 were bilateral. One hundred and fourteen ears with congenital auricular deformities were included. High-resolution CT (HRCT) data was obtained from each patient. The auricular deformities were classified into three grades using the Marx H classification system. The modified Jahrsdoerfer grading system was used to score the malformations using HRCT data. The correlation between the grades of auricular deformities and scores of middle ear malformations was analyzed using Spearman rank correlation analysis. RESULTS: The Marx H grades of congenital auricular deformities were 12 patients with grade I, 25 patients with grade II and 77 patients with grade III, while their corresponding Jahrsdoerfer scores were 7.8 ± 2.4, 6.8 ± 2.6 and 6.0 ± 2.8, respectively. The statistical analysis suggested a trend of negative correlation between the Marx H grades of auricular deformities and the Jahrsdoerfer scores of middle ear malformations (r = -0.2386, P = 0.0106). CONCLUSION: There was a trend to a negative correlation between congenital auricular deformities and middle ear malformations.

Fu YY; Zhang TY; Dai PD; Hao SJ; Chi ZC

2010-08-01

96

Smoking and the occurrence of congenital malformations and spontaneous abortions: multivariate analysis.  

UK PubMed Central (United Kingdom)

A multivariate analysis was carried out with retrospective data on the effects of tobacco smoking on congenital malformations and spontaneous abortions. Congenital malformations were collected from the Finnish Register of Congenital Malformation. Tens of possible confounding variables, including maternal and family characteristics, obstetric history, medicine taking, and diseases during the pregnancy, were taken into consideration. In the final analysis 13 confounders were controlled. The odds ratios for the smoker's child to be born with central nervous system, oral cleft, or musculoskeletal malformations were 1.25, 1.25, and 0.75, respectively. All the differences were statistically nonsignificant. The effect of smoking on spontaneous abortions was analyzed by means of a questionnaire study on hospital personnel. The smokers of over 10 cigarettes per day had more spontaneous abortions than the nonsmokers, but the differences were not significantly statistically. The data were controlled for age, parity, and coffee and alcohol drinking.

Hemminki K; Mutanen P; Saloniemi I

1983-01-01

97

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

UK PubMed Central (United Kingdom)

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

Julihn A; Jansson P; Regnstrand T; Modéer T

2013-05-01

98

Tricuspid valve replacement through a left atriotomy and transseptal approach in a congenitally malformed heart.  

UK PubMed Central (United Kingdom)

More and more children with congenital heart disease are surviving into adulthood. These patients are forcing adult congenital cardiac surgeons to develop innovative approaches to correct their complex anatomy and physiology. This report describes a patient with a congenitally malformed heart necessitating a novel approach to access the tricuspid valve--a left atriotomy and transseptal incision. Three-dimensional preoperative imaging allowed for successful surgical planning.

Kogon BE; Grudziak J; McConnell M; Book WM

2013-03-01

99

Paternal occupational exposures and the risk of congenital malformations--a case-control study.  

UK PubMed Central (United Kingdom)

OBJECTIVES: This study examined the association between certain paternal occupational exposures during the periconceptional period and the risk of congenital malformations. MATERIALS AND METHODS: A case-control study was carried out from December 2009 to April 2010; on 242 congenital malformation cases and 270 controls. Paternal occupational exposure to certain workplace hazards was assessed by a detailed questionnaire to evaluate the occupational exposure for both fathers and mothers including pesticides, solvents, welding fumes, lead, working with video display terminals (VDTs) and computer monitors. In addition, the questionnaire assessed the presence of other risk factors such as consanguinity, smoking and history of any maternal diseases during the pregnancy with the child. RESULTS: The results revealed that the odds of having a child with congenital malformation was higher (P < 0.01) if the father was occupationally exposed to pesticides (OR: 3.42, 95% CI: 1.97-5.92), solvents (OR: 5.63, 95% CI: 2.77-11.42), or welding fumes (OR: 2.98, 0.99-8.54) during the periconceptional period. However, consanguinity (OR: 1.91, 95% CI: 1.25-2.92) was a risk factor of developing congenital malformations among offspring. CONCLUSION: Control of workplace exposures and adherence to threshold limit values of those hazards should be adopted to minimize the risk of developing congenital malformations among offspring.

El-Helaly M; Abdel-Elah K; Haussein A; Shalaby H

2011-06-01

100

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

UK PubMed Central (United Kingdom)

OBJECTIVE: To study the risk for congenital anomalies in the first child of women after bariatric surgery compared with all other women giving birth to their first child and divided by maternal body mass index (BMI) groups. DESIGN: Prospective, population-based register study. SETTING: Sweden. SAMPLE: All firstborn children to women born 1973-83 were studied to determine if they had a congenital anomaly and a mother who had undergone bariatric surgery before pregnancy. METHODS: A total of 270 805 firstborns; of which 341 had mothers who had had bariatric surgery before delivery. We retrieved information on the women's marital or cohabitation status, smoking, BMI, diabetes and hypertension during pregnancy. MAIN OUTCOME MEASURES: Congenital malformations. RESULTS: Of the firstborn children to mothers who had had bariatric surgery before pregnancy, 4.1% (95% confidence interval [95% CI] 2.2-6.0) were malformed compared with 3.4% (95% CI 3.3-3.5) of those whose mothers had not undergone bariatric surgery. The risk for congenital malformation in firstborn children increased with increasing maternal BMI. The adjusted odds ratio (OR) for congenital malformation among children whose mothers' BMI ranged between 25 and 29 kg/m(2) was 1.09 (95% CI 1.03-1.15), whose mothers' BMI ranged between 30 and 34 kg/m(2) was 1.14 (1.05-1.24) and whose mothers' BMI was ?35 kg/m(2) was 1.30 (95% CI 1.16-1.45) compared with those whose mothers had a normal BMI. Bariatric surgery before pregnancy did not have any effect on the odds ratio for having congenital malformation (OR = 1.09, 95% CI 0.63-1.91). CONCLUSIONS: Preconception bariatric surgery does not seem to affect the risk for congenital malformations but a high to very high BMI does appear to increase the risk.

Josefsson A; Bladh M; Wiréhn AB; Sydsjö G

2013-08-01

 
 
 
 
101

Vertebral malformations in medaka (teleost fish) after exposure to tritiated water in the embryonic stage.  

UK PubMed Central (United Kingdom)

This study was designed to investigate radiation-induced vertebral malformations in medaka embryos irradiated with beta particles from tritium. Embryos of two inbred strains (HO4 and HO5) of medaka, Oryzias latipes, were exposed either to different concentrations of tritiated water (9.25-37 MBq/ml) or to 137Cs gamma rays (dose rates of 0.44-1.89 Gy/day) continuously from morula to hatching. The newly hatched fry were removed from the radiation field and kept under usual conditions for 1 month. Young fish were fixed in 10% buffered formalin, cleared in 1% KOH, stained with alizarin red S, and kept in glycerine. There was almost no difference in the response to radiation between medaka strains. No marked reduction of hatching rate was observed after chronic irradiation with beta particles and gamma rays, but a considerable reduction in survival of fry was detected in irradiated groups within 1 month after hatching. From observation of whole-mounted skeleton specimens, the following vertebral malformations were found in irradiated groups: fusion of two or more vertebrae, incomplete formation of vertebrae, and lack of vertebral process. The incidence of vertebral malformations increased significantly in both groups irradiated with tritium beta particles and 137Cs gamma rays. A similarity in the incidences was also observed between beta-particle- and gamma-irradiated groups. The RBE of beta particles relative to gamma rays was estimated to be 1 based on the dose-response relationships observed.

Hyodo-Taguchi Y; Etoh H

1993-09-01

102

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

Science.gov (United States)

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

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

103

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

UK PubMed Central (United Kingdom)

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

Nimby GT; Lundberg L; Sveger T; McNeil TF

1999-07-01

104

[Two rare congenital malformations of the female urethra  

UK PubMed Central (United Kingdom)

Two cases of incontinent females due to malformations of the dorsal wall of the urethra are presented and surgical corrections are discribed. The causal factors for the development of the malformations are explained by irregularities of the Wolffian ducts' regression during the transition period between in gonadal development between the 3rd and 5th week of gestation. The new medical technical term "indifference-syndrome" is proposed, to distuingish these malformations of the female urethra from true hypospadia.

Breipohl W; Kersting D

1979-09-01

105

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

Directory of Open Access Journals (Sweden)

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; Vilhekar Krishna; Chaturvedi Pushpa; Jain Manish

2010-01-01

106

Registro Nazionale Malattie Rare: Malformazioni Congenite e Acido Folico (National Register of Rare Diseases: Congenital Malformation and Folic Acid).  

Science.gov (United States)

It is estimated that in Italy at least 3% of babies are born with some congenital malformation. Scientific evidence demonstrates that the intake of folic acid by a woman prior the conception and during the early stages of pregnancy plays a role in prevent...

A. Pierini D. Taruscio F. Bianchi P. Salerno

2006-01-01

107

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

International Nuclear Information System (INIS)

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

2008-01-01

108

Fetal Deaths and Congenital Malformations in Progenies of Iranian Chemical Victims  

Directory of Open Access Journals (Sweden)

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

H Pour-Jafari; DD Farhud; M Hashemzadeh Chaleshtori

2011-01-01

109

Congenital malformation and fetal mortality trends in counties surrounding Oak Ridge  

International Nuclear Information System (INIS)

[en] 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

110

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

Directory of Open Access Journals (Sweden)

Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

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

2000-01-01

111

Early prenatal diagnosis of type III bilateral congenital cystic adenomatoid malformation of the lung.  

Science.gov (United States)

We present a case of type III fetal cystic adenomatoid malformation with bilateral total involvement of the lungs. The characteristic sonographic findings are echogenic homogeneous lung mass, fetal ascites and placentomegaly. The early diagnosis at 16 weeks' gestation allows the elective termination of pregnancy because of the likely fatal prognosis. To our knowledge, this is the earliest reported case of congenital cystic adenomatoid malformation of the lung that has been detected prenatally. PMID:12796992

Chou, M M; Ho, E S; Lee, H S; Lee, Y H; Su, M C; Shih, T P

1992-03-01

112

Early prenatal diagnosis of type III bilateral congenital cystic adenomatoid malformation of the lung.  

UK PubMed Central (United Kingdom)

We present a case of type III fetal cystic adenomatoid malformation with bilateral total involvement of the lungs. The characteristic sonographic findings are echogenic homogeneous lung mass, fetal ascites and placentomegaly. The early diagnosis at 16 weeks' gestation allows the elective termination of pregnancy because of the likely fatal prognosis. To our knowledge, this is the earliest reported case of congenital cystic adenomatoid malformation of the lung that has been detected prenatally.

Chou MM; Ho ES; Lee HS; Lee YH; Su MC; Shih TP

1992-03-01

113

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

UK PubMed Central (United Kingdom)

OBJECTIVE: To review the management and outcome of babies with antenatally diagnosed congenital cystic adenomatoid malformation. DESIGN: Retrospective cohort review. SETTING: Tertiary neonatal care unit at Queen Mary Hospital and antenatal diagnostic centre at Tsan Yuk Hospital. PATIENTS: Consecutive patients with antenatally suspected congenital cystic adenomatoid malformation in their concepti among antenatal patients attending Tsan Yuk Hospital from 1994 to 2002. Twenty-four of 33 cases were referred to Queen Mary Hospital for postnatal management and for whom comprehensive records were available for analysis in 23. INTERVENTIONS: Postnatal interventions in their babies included investigational imaging for congenital cystic adenomatoid malformation and surgery. MAIN OUTCOME MEASURES: Antenatal and postnatal outcome, as well as pathology of the excised lesions. RESULTS: Antenatal outcome: termination of pregnancy in two cases and spontaneous abortion in one; in-utero regression was documented in nine cases and in one hydropic change was apparent. Postnatal outcome: only eight of 20 babies born alive had symptoms in neonatal period. Two developed serious infective complications in infancy, one with documented in-utero regression. Pulmonary parenchymal abnormalities were detected on computed tomography of the thorax in six of seven cases with normal or non-specific chest radiograph findings. Among nine cases with in-utero regression, congenital cystic adenomatoid malformation was confirmed by operative histology in five and abnormal computed tomography findings in three. Fifteen babies underwent surgical excision, one of whom died because of severe pre-existing pulmonary hypoplasia and nine endured minor postoperative complications. A favourable outcome was documented at a mean follow-up of 22 months (range, 2 months-7 years). CONCLUSIONS: In-utero regression of congenital cystic adenomatoid malformation on antenatal ultrasound may not represent genuine resolution. Computed tomographic thorax should be considered in all newborns with antenatally diagnosed congenital cystic adenomatoid malformation, and if confirmed early operation before first hospital discharge is recommended.

Chow PC; Lee SL; Tang MH; Chan KL; Lee CP; Lam BC; Tsoi NS

2007-02-01

114

Bisphenol A induces otolith malformations during vertebrate embryogenesis.  

UK PubMed Central (United Kingdom)

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.

Gibert Y; Sassi-Messai S; Fini JB; Bernard L; Zalko D; Cravedi JP; Balaguer P; Andersson-Lendahl M; Demeneix B; Laudet V

2011-01-01

115

Malformación adenomatoidea quística congénita/ Congenital cystic adenomatous malformation  

Scientific Electronic Library Online (English)

Full Text Available 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 p (more) acientes 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 were found. All were full term, normal weight births. Two patients showed respiratory distress at birth. Two chest x-rays were normal. CT scans showed three clear CCAM lesions, (more) 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.

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

2011-04-01

116

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

UK PubMed Central (United Kingdom)

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. RESULTS: The final product was a computer-based educational program consisting of ten separate modules, one for each particular malformation. The program was experienced as stimulating and easy to use. The appearance and quantity of the text was graded as good and the content as relevant and very useful. CONCLUSION: This is the first computer-based program developed for adults with congenitally malformed hearts. The evaluation found the program to have great potential as an important tool for improving care. Further studies are needed to test the outcomes of the program on knowledge, perceived control over the heart condition, anxiety/depression. and health-related quality of life. PRACTICE IMPLICATIONS: The program may be used as a complement to verbal information and every adult with a congenitally malformed hearts can receive individualized information from a personal CD.

Rönning H; Nielsen NE; Strömberg A; Thilen U; Swahn E

2013-02-01

117

Shall all congenital cystic lung malformations be removed? the case in favour.  

UK PubMed Central (United Kingdom)

The need to systematically remove congenital cystic lung lesions is based on three main arguments. First, cystic malformations are often considered as congenital cystic adenomatoid malformations (CCAM), while other less favorable diagnoses are possible, such as pleuropulmonary blastoma. Only postsurgical pathological analysis allows diagnosis. Second, there are clinical and biological arguments for considering macrocystic lesions as likely to degenerate. The only prevention is surgical removal. Finally, there is no recommendation on how to follow these children, in the absence of removal, causing unnecessary family stress. This seems unjustified, compared to a feasibility of thoracoscopic removal in most cases.

Delacourt C; Hadchouel A; Khen Dunlop N

2013-09-01

118

Complete Maxillo-Mandibular Syngnathia in a Newborn with Multiple Congenital Malformations.  

UK PubMed Central (United Kingdom)

Syngnathia is an extremely rare condition involving congenital fusion of the maxilla with the mandible. Clinical presentations vary from simple mucosal bands (synechiae) to complete bony fusion (synostosis). Most cases are unilateral incomplete fusions. We report the case of a severely growth-retarded newborn infant with complete synostosis of the mandible with the maxilla and the zygoma associated with cleft palate, choanal atresia, deafness, delayed cerebral white matter development, and genital and limb malformations. Extensive genetic analysis did not reveal any mutations. This association of multiple congenital malformations may represent an entity distinct from previously described syndromes associated with syngnathia.

Broome M; Vial Y; Jacquemont S; Sergi C; Kamnasaran D; Giannoni E

2013-06-01

119

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

Directory of Open Access Journals (Sweden)

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

Aura Manuela David

2006-01-01

120

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

Directory of Open Access Journals (Sweden)

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

Annam Vamseedhar; Korishetty S; Yelikar B; Hippargi Surekha; Shivalingappa Dhananjaya

2010-01-01

 
 
 
 
121

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

UK PubMed Central (United Kingdom)

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

Botvin'ev OK; Eremeeva AV; Razumovskaia IN; Kondrikova EV

2011-11-01

122

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

Scientific Electronic Library Online (English)

Full Text Available 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 ent (more) re 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 a (more) sociación 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 malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac (more) 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 to 50% of the patients with congen

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

2013-06-01

123

Annual trends in use of periconceptional folic acid and birth prevalence of major congenital malformations.  

UK PubMed Central (United Kingdom)

BACKGROUND: Recent evidence suggests that periconceptional folic acid use could not only prevent neural tube defects but also other malformations. The objectives of this study were to assess trends in dispensed high dose periconceptional folic acid (5 mg) and birth prevalence of major congenital malformations. METHODS: The Quebec Pregnancy Registry, an administrative database with information on periconceptional prescribed medication and diagnostic codes was used to conduct this study. All pregnant women insured by the Quebec public drug plan between January 1(st) 1998 and December 31(st) 2008 were included. The exposure was defined as the use of high dose periconceptional folic acid 30 days before, and during the first 70 days of pregnancy. The outcome measured was the birth prevalence of major congenital malformations among live births. RESULTS: We identified 152,392 pregnancies and babies. The annual prevalence of high dose periconceptional folic acid use increased from 0.17% to 0.80% (p<0.05) during the study period; birth prevalence of congenital malformations increased by 15% (3.35% to 3.87%, p<0.05). More specifically, a 23% increase in the prevalence of cardiac malformation and 23% increase in musculoskeletal defects were observed, whereas there was no change in the prevalence of malformations of the nervous system. CONCLUSIONS: Although there was an increase in the use of periconceptional high dose folic acid over the past decade, there was no decrease in the prevalence of major congenital malformations. A limitation of this study is the absence of data on low dose folic acid use, available over the counter, in our administrative database.

Richard-Tremblay AA; Sheehy O; Bérard A

2013-07-01

124

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

UK PubMed Central (United Kingdom)

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

Solomon BD; Raam MS; Pineda-Alvarez DE

2011-06-01

125

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

Science.gov (United States)

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

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

2011-06-01

126

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

UK PubMed Central (United Kingdom)

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.

Sarin YK; Sinha S; Bhalotra AR; Khurana N; Sobti P

2013-01-01

127

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 ...

Sumit Gupta; Parul Gupta; Jagdish S. Soni

128

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

Science.gov (United States)

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

Sarin, Yogesh Kumar; Sinha, Shalini; Bhalotra, Anju Romina; Khurana, Nita; Sobti, Parul

2013-05-09

129

Combined approach to a peripheral congenital arteriovenous malformation: surgery and embolization.  

Science.gov (United States)

A 28-year-old woman with a complex peripheral congenital arteriovenous malformation in the left shoulder and left upper arm was treated by a combination of surgery and embolization. In the consecutive four operations, the major feeding arteries of the arteriovenous malformation were ligated, but as her complaints increased, transcatheter embolization was planned for releaving the symptoms in the first aspect. A total of eight embolization sessions were performed with Onyx during the 3-year period. The arteriovenous communications were occluded by embolization, with approximately more than an 80% decrease in the lesion size angiographically. After these interventions, the patient's symptoms improved clinically and dyspnea was lessened. Peripheral congenital arteriovenous malformation is a rare and therapeutically challenging condition in which a combination of surgery and embolization would be necessary to obtain a good result. PMID:16550315

Toker, Mehmet Erdem; Eren, Ercan; Akbayrak, Hakan; Numan, Firuzan; Güler, Mustafa; Balkanay, Mehmet; Yakut, Cevat

2006-03-01

130

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

UK PubMed Central (United Kingdom)

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

Schumacher GH; Gill H; Gill H

1987-01-01

131

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; Julio Nazer H; Silvia Castillo T

1998-01-01

132

A study on congenital vaginal malformations in rural population of north Maharashtra region  

Directory of Open Access Journals (Sweden)

Full Text Available To find out types of vaginal malformations in rural population of North Maharashtra, to study various operative procedures designed for vaginal malformations and to evaluate the use of rubber mould for McIndoe operation. Method: Eighteen cases of congenital vaginal malformations were screened in OPD. We found seventeen patients of primary amenorrhea were having congenital vaginal malformation. One patient of stricture of upper vagina was having normal menstruation. They were investigated according to the standard protocol. After clinical examination patients were investigated by U.S.G. and I.V.P. sos and diagnostic laparoscopy, the investigations for operation were Hb, Urine (Alb. Sug. Microscopy), BSL (R), BUL, Serum creatine. Then all of them were operated between Jan.1985 to Oct. 2002 under general anaesthesia & the analysis was done. The type of operations done were 1) Mcindoe operation 2) Pull through operation 3) Excision of imperforate hymen. Results: Twelve cases of Rokitansky-Kuster-Hauster Syndrome were operated by McIndoe technique. None of the patients developed V.V.F. or R.V.F. The average vaginal length was 8.76 cms.; Four cases of imperforate hymen had undergone excision & Two cases of congenital stricture in upper vagina had undergone pull through operation Conclusions: Use of foam rubber mold is without any pressure necrosis of bladder or rectum.

Sarita Ajit Deshpande, Ajit Balkrishna Deshpande

2013-01-01

133

Genetic test for the identification of carriers of complex vertebral malformations in cattle  

UK PubMed Central (United Kingdom)

Genetic markets for identifying bovine carriers of complex vertebral malformation (CVM) disease gene are described. The genetic markers, including the microsatellite markers BM4129, INRAA003, BMS2790, ILSTS029, INRA123, BM220, HUJ246, BMS862, BMS937, BL1048, BMS2095 and BMS1266 and the bovine SLC35A3 gene, are located on bovine chromosome BTA3. The G/T polymorphism at position 559 of the bovine SLC35A3 gene is identified as being causative and diagnostic for CVM in cattle.

BENDIXEN CHRISTIAN; SVENDSEN SOREN; JENSEN HELLE; PANITZ FRANK; AASBERG ANDERS; HOLM LARS-ERIK; HORN PER; HOJ ANETTE; THOMSEN BO; JEPPESEN METTE; NIELSEN VIVI HUNNICKE; JONKER MARCK; SVENDSEN SOEREN; HOEJ ANETTE; NIELSEN HUNNICKE VIVI

134

GENETIC TEST FOR THE IDENTIFICATION OF CARRIERS OF COMPLEX VERTEBRAL MALFORMATIONS IN CATTLE  

UK PubMed Central (United Kingdom)

Genetic markets for identifying bovine carriers of complex vertebral malformation (CVM) disease gene are described. The genetic markers, including the microsatellite markers BM4129, INRAA003, BMS2790, ILSTS029, INRA123, BM220, HUJ246, BMS862, BMS937, BL1048, BMS2095 and BMS1266 and the bovine SLC35A3 gene, are located on bovine chromosome BTA3. The G/T polymorphism at position 559 of the bovine SLC35A3 gene is identified as being causative and diagnostic for CVM in cattle.

BENDIXEN Christian; SVENDSEN Søren; JENSEN Helle; PANITZ Frank; AASBERG Anders; HOLM Lars-Erik; HORN Per; HÏJ Anette; THOMSEN Bo; JEPPESEN Mette; NIELSEN Vivi Hunnicke; JONKER Marc

135

GENETIC TEST FOR THE IDENTIFICATION OF CARRIERS OF COMPLEX VERTEBRAL MALFORMATIONS IN CATTLE  

UK PubMed Central (United Kingdom)

Genetic markets for identifying bovine carriers of complex vertebral malformation (CVM) disease gene are described. The genetic markers, including the microsatellite markers, BM4129, INRAA003, BMS2790, ILSTS029, INRA123, BM220, HUJ246, BMS862, BMS937, BL1048, BMS2095 and BMS1266 and the bovine SLC35A3 gene, are located on bovine chromosome BTA3. The G/T polymorphism at position 559 of the bovine SLC35A3 gene is identified as being causative and diagnostic for CVM in cattle.

BENDIXEN CHRISTIAN; SVENDSEN SOEREN; JENSEN HELLE; PANITZ FRANK; AASBERG ANDERS; HOLM LARS-ERIK; HORN PER; HOEJ ANETTE; THOMSEN BO; JEPPESEN METTE; NIELSEN VIVI HUNNICKE; JONKER MARC

136

Genetic test for the identification of carriers of complex vertebral malformations in cattle  

UK PubMed Central (United Kingdom)

Genetic markets for identifying bovine carriers of complex vertebral malformation (CVM) disease gene are described. The genetic markers, including the microsatellite markers, BM4129, INRAA003, BMS2790, ILSTS029, INRA123, BM220, HUJ246, BMS862, BMS937, BL1048, BMS2095 and BMS1266 and the bovine SLC35A3 gene, are located on bovine chromosome BTA3. The G/T polymorphism at position 559 of the bovine SLC35A3 gene is identified as being causative and diagnostic for CVM in cattle.

BENDIXEN CHRISTIAN; SVENDSEN SOREN; JENSEN HELLE; PANITZ FRANK; AASBERG ANDERS; HOLM LARS-ERIK; HORN PER; HOJ ANETTE; THOMSEN BO; JEPPESEN METTE; NIELSEN VIVI H; JONKER MARCK

137

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

International Nuclear Information System (INIS)

[en] 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)

2012-01-01

138

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

UK PubMed Central (United Kingdom)

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.

Kanazawa Y; Naito Y; Shinohara S; Fujiwara K; Kikuchi M; Yamazaki H; Kurihara R; Kishimoto I

2012-03-01

139

Magnetic resonance vs. sonographic imaging: diagnostics of a large congenital pulmonary airway malformation.  

UK PubMed Central (United Kingdom)

Sonographic scan revealed a homogenously hyperechogenic lesion in the right fetal lung with microcystic pattern by a primigravid women at 22nd weeks of gestation. A large congenital pulmonary airway malformation (CPAM) was suspected with a lesion-to-lung ratio over 90%. The microcystic image of this thoracic anomaly was moderately visible on magnetic resonance imaging (MRI) at that early stage of the pregnancy. Fetopsy confirmed the diagnosis as a pure microcystic CPAM following termination of pregnancy. A controlled prospective study could be performed to compare ultrasound as a diagnostic modality to the MRI, focusing on volumetry, signal characteristics, and follow-up/regression of fetal pulmonary malformations.

Kozinszky Z; Keresztúri A; Pásztor N; Daru J; Sikovanyecz J; Kaiser L; Milassin P; Pál A

2013-02-01

140

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 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 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. 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 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.

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

2010-03-01

 
 
 
 
141

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; Acelia Salmon Cruzata; Mirelvis Musle Acosta; Yamilé Rosales Fargié; Vivian Dosouto Infante

2010-01-01

142

GENETIC TEST FOR THE IDENTIFICATION OF CARRIERS OF COMPLEX VERTEBRAL MALFORMATIONS IN CATTLE  

UK PubMed Central (United Kingdom)

The test is made by genetic markers for identification of bovine carriers of complex vertebral malformation (CVM). The genetic markers, including the microsatellite markers BM4129, INRAA003, BMS2790, ILSTS029, INRA123, BM220, HUJ246, BMS862, BMS937, BL1048, BMS2095 and BMS1266 and the bovine SLC35A3 gene, are localized on bovine chromosome BTA3. The G/T polymorphism at position 559 of the bovine SLC35A3 is identified at being causative and diagnostic for CVM in cattle. It is used as diagnostic kit for establishing at least one genetic marker in cattle, related to complex vertebral malformation (CVM). This kit has at least one oligonucleotide sequence, selected from the group comprising SEQ ID NO: 1, SEQ ID NO: 2, SEQ ID NO: 3, SEQ ID NO: 4, SEQ ID NO: 5, SEQ ID NO: 6, SEQ ID NO: 7, SEQ ID NO: 8, SEQ ID NO: 9, SEQ ID NO: 10, SEQ ID NO: 11, SEQ ID NO: 12, SEQ ID NO: 13, SEQ ID NO: 14, SEQ ID NO: 15, SEQ ID NO: 16, SEQ ID NO: 33, SEQ ID NO: 34, SEQ ID NO: 35, SEQ ID NO: 36, SEQ ID NO: 37 and SEQ ID NO: 38 and a combination thereof.

BENDIXEN CHRISTIAN; SVENDSEN SOREN; JENSEN HELLE; PANITZ FRANK; AASBERG ANDERS; HOLM LARS-ERIK; HORN PER; HOJ ANETTE; THOMSEN BO; JEPPESEN METTE

143

Left-sided congenital abdominal wall defect and intestinal malformation--a rare case.  

Science.gov (United States)

A case report of a female newborn with a rare congenital abdominal wall defect associated with intestinal malformation. To our knowledge, only a few case reports of left sided congenital abdominal wall defect with this type of anomalies have been reported in the world literatures and this is the first in Fiji. This case brought numerous challenges to the team in terms of defining the pathology, role of undertaking surgery, providing supportive and nutritional therapy to a neonate and the ethical dilemma with the management in a developing country. PMID:23008980

Cama, J; Nagra, S; Chang, A

2011-03-01

144

Left-sided congenital abdominal wall defect and intestinal malformation--a rare case.  

UK PubMed Central (United Kingdom)

A case report of a female newborn with a rare congenital abdominal wall defect associated with intestinal malformation. To our knowledge, only a few case reports of left sided congenital abdominal wall defect with this type of anomalies have been reported in the world literatures and this is the first in Fiji. This case brought numerous challenges to the team in terms of defining the pathology, role of undertaking surgery, providing supportive and nutritional therapy to a neonate and the ethical dilemma with the management in a developing country.

Cama J; Nagra S; Chang A

2011-03-01

145

Population surveillance of multimalformed infants--experience with the Swedish Registry of Congenital Malformations. First Part.  

UK PubMed Central (United Kingdom)

The paper discusses the principles of an analysis of infants with multiple malformations, recorded in a birth defect registry. It is illustrated with 973 multimalformed infants recorded in the Swedish Registry of Congenital Malformations, 1965-1984. The detection and delineation of patterns of associated malformations is described and exemplified with the VATER association pattern. There is no time trend for the rate of infants with this association; they represent about 4% of all registered multimalformed infants; and their prevalence at birth is 2.7 per 100,000 births. The rate of infants probably representing unidentified trisomy 13 shows a decrease after 1977 indicating an increased access to cytogenetic services. A similar decrease is seen in infants probably representing unidentified Meckel's syndrome. Using 28 multimalformed infants registered in 1985, the technique for surveillance of multimalformed infants in a population is discussed.

Källén B

1987-08-01

146

[Periconceptional supplementation with folic acid for the primary prevention of congenital malformations].  

UK PubMed Central (United Kingdom)

Most international trials support the recommendation that all women planning or at risk of pregnancy take a daily multivitamin supplement containing folic acid, beginning one month before conception and continuing through the first trimester for primary prevention of neural tube defects and other congenital malformations. Recently an intervention project started also in Italy, in order to support and maintain the periconceptional supplementation and to evaluate the efficacy of a national preventive campaign on parents' behaviour.

Ronfani L; Marchetti E; Bortolus R; D'Andrea N; Taccardi R; Annona C; Ghiotti P; Mastroiacovo P; Tamburlini G

2004-03-01

147

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

2005-01-01

148

[Severe mental illness in mothers and congenital malformations in newborns: a meta-analysis].  

UK PubMed Central (United Kingdom)

The risk of congenital malformations appears to be higher in infants of mothers with mental disorders as compared to those of mothers with no history of psychiatric illness. This article presents a meta-analysis of studies on the association between maternal mental illness and congenital malformations. The review consisted of an article search in the MEDLINE, ISIWEB, Scopus, and SciELO databases, using the following key words: "mental disorders" OR "mental health" OR "psychotic disorders" OR "schizophrenia" AND "congenital abnormalities" OR "birth defects". A total of 108 studies were identified, and five articles were selected according to the established criteria. These articles were included in a meta-analysis, involving a total of 4,194 children of mothers with mental illness and 249,548 children of mothers with no such disorders. Pooled relative risk showed a significant association between exposure to mental illness in mothers and risk of malformations in newborns (RR = 2.06, 95%CI: 1.46-2.67). The study highlights the relationship between maternal mental health during pregnancy and its effects on the infant's health.

Pereira PK; Lima LA; Magnanini MM; Legay LF; Lovisi GM

2011-12-01

149

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; Parul Gupta; Jagdish S. Soni

2012-01-01

150

The pathological anatomy of surgically reconstructable or prosthetically correctable congenital valvular malformation of the mitral region.  

UK PubMed Central (United Kingdom)

The special pathology of reconstructable or only prosthetically correctable congenital malformations of the mitral valve is described on the basis of the following examples taken from our own operative and autopsy material of the last 5 years: 1. Congenital isolated mitral stenosis in female twins (7 month old infant and 33 month old child). 2. Congenital isolated mitral insufficiency in a 7 1/2 year old boy. 3. Combined mixed mitral valve malformations with a parachute valve-like mitral valve anomaly, combined with hypoplasia of the ascending and descending aortas, in a 6 1/2 year old girl. 4. Congenital mitral insufficiency with a parachute mitral valve, combined with supravalvular aortic stenosis and multiple peripheral stenoses of the pulmonary arteries in a 13 1/4 year old boy. 5. Insufficiency of the mitrally inverted tricuspid valve with so-called corrected transposition of the great vessels in a 6 year old boy and with Ebstein's anomaly in a 2 1/2 year old boy. 6. A second mitral ostium in the aortic mitral leaflet with a partial atrioventricular canal in a 6 3/4 year old girl with Ellis-van Creveld syndrome. 7. Bland-White-Garland syndrome with relative mitral insufficiency in a 5 month old and a 4 month old boy. Despite the recurrence of similar and comparable findings, each of our cases of congenital or early acquired noninfectious mitral valve malformation was formally different. n his was also true for the cases of congenital isolated mitral stenosis in twins. Therefore, surgical correction requires a unique procedure for each case. It is possible to reliably infer the degree of malfunction of the atrioventricular valve in a mitral position from the special pathology only by considering the clinical data. On the other hand, a detailed evaluation of congenital mitral valve malformations is possible only through direct inspection--either by the surgeon or through an autopsy--despite modern cardiodiagnostic methods. Typical secondary findings are also discussed--for instance, endocardial fibrosis of the left atrium and the configuration of the heart. The anatomical prerequisites for surgical reconstruction or replacement of the valve with a prosthesis are mentioned.

Schwarze EW; Bernhard A

1975-07-01

151

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

Directory of Open Access Journals (Sweden)

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

Ana Bento; Hamilton Baptista; Fernando Oliveira

2013-01-01

152

Occipitoatlantoaxial Instability and Congenital Thoracic Vertebral Deformity in Pierre Robin Sequence  

Digital Repository Infrastructure Vision for European Research (DRIVER)

STUDY DESIGN: Case report of a patient with Pierre Robin sequence who presented with occipitoatlantoaxial instability and congenital thoracic deformity.OBJECTIVE: As there are lack of similar cases in the literature, we would like to introduce a case of a patient with associated malformations, the c...

Molnár, Szabolcs; Szappanos, László; Körmendi, Zoltán; Veres, Róbert; Molnár Szabolcs Lajos (1973-) (orvos, ortopédia-traumatológia)

153

Genetics of congenital heart malformations: a stochastic model.  

UK PubMed Central (United Kingdom)

A stochastic model is proposed to explain how alterations in the properties of developing endocardial cells could control the outgrowth of endocardial cushions in normal persons, in subjects from families with a predisposition to congenital heart defects, and in subjects with trisomy 21. Normal and abnormal outgrowth of the endocardial cushions of the atrioventricular (AV) canal were modeled by computer simulations. Computer simulations depicted not only the sequence of normal AV valve development, but also illustrated how increased cellular adhesiveness of fibroblasts from the endocardial cushions of the AV canal--which we have observed in vitro among cultured cells from Down syndrome abortuses--may result in AV canal defects. The stochastic model so elaborated demonstrates how single gene changes may result in abnormalities in only a proportion of subjects carrying mutant alleles, yielding inheritance patterns characterized previously as being "multifactorial" in origin.

Kurnit DM; Aldridge JF; Neve RL; Matthysse S

1985-01-01

154

Clinical approach for the classification of congenital uterine malformations.  

UK PubMed Central (United Kingdom)

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 classification. The embryological origin of the anomalies is used as a secondary parameter. Uterine anomalies are classified into the following classes: 0, normal uterus; I, dysmorphic uterus; II, septate uterus (absorption defect); III, dysfused uterus (fusion defect); IV, unilateral formed uterus (formation defect); V, aplastic or dysplastic uterus (formation defect); VI, for still unclassified cases. A subdivision of these main classes to further anatomical varieties with clinical significance is also presented. The new proposal has been designed taking into account the experience gained from the use of the currently available classification systems and intending to be as simple as possible, clear enough and accurate as well as open for further development. This proposal could be used as a starting point for a working group of experts in the field.

Grimbizis GF; Campo R

2012-05-01

155

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.)

2006-01-01

156

Fragile X syndrome in two siblings with major congenital malformations  

Energy Technology Data Exchange (ETDEWEB)

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

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

1996-05-17

157

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

2012-01-01

158

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

Directory of Open Access Journals (Sweden)

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

Jette B Kornum; Rikke B Nielsen; Lars Pedersen; et al

2010-01-01

159

[The value of somatosensory evoked potential in the clinical evaluation of congenital scoliosis with and without intraspinal malformations].  

UK PubMed Central (United Kingdom)

OBJECTIVE: To investigate the value of somatosensory evoked potential (SEP) in the diagnosis of congenital scoliosis (CS) with intraspinal malformation. METHODS: From September 2001 to September 2007 posterior tibial nerve SEP were performed on 187 operatively treated CS patients. There were 85 male and 102 female, and the average age was 13.8 years (range from 30 to 22 years). Patients with intraspinal malformations were diagnosed by MRI. Absence of SEP waveforms, prolongation of peek latency or asymmetrical peek latency were defined as pathological change. The incidence of pathological SEP and clinical characteristics were compared between patients with and without intraspinal malformations. RESULTS: Of 187 patients, intraspinal malformations were diagnosed in 32 patients (17.1%). The incidence of intraspinal malformations was higher in type III (30.8%) than in type I and II CS patients (P < 0.05). The mean Cobb angle of scoliosis in patients with intraspinal malformations was greater than without intraspinal malformations, but there was no difference in kyphosis between the two groups. The ratio of abnormal SEP in patients with intraspinal malformations was 75.0% (24/32), while it was 38.7% (60/155) in patients without intraspinal malformations, and it showed significant difference between the two groups (?(2) = 4.70, P < 0.05). CONCLUSIONS: SEP is a reliable tool for assessment of spinal cord function in patients with congenital scoliosis. It could be helpful for the diagnosis of intraspinal malformations, and also might provide an important reference for assessment and treatment of intraspinal malformations in congenital scoliosis.

Chen ZJ; Qiu Y; Ma WW; Zhu F

2010-08-01

160

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; Teresa Aravena C; Lucía Cifuentes O

2001-01-01

 
 
 
 
161

Use of Corticosteroids in Early Pregnancy is Not Associated With Risk of Oral Clefts and Other Congenital Malformations in Offspring  

DEFF Research Database (Denmark)

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

Bay BjØrn, Anne-Mette; Ehrenstein, Vera

2012-01-01

162

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

Directory of Open Access Journals (Sweden)

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; M.N. Sivachelvan; Y. Haruna; I.M. Wiam and A. Yahaya

2010-01-01

163

Child with deletion 9p syndrome presenting with craniofacial dysmorphism, developmental delay, and multiple congenital malformations.  

UK PubMed Central (United Kingdom)

A 4-month-old Sri Lankan male child case with a de novo terminal deletion in the p22?pter region of chromosome 9 is described. The child presented with craniofacial dysmorphism, developmental delay, and congenital malformations in agreement with the consensus phenotype. A distinctive feature observed in this child was complete collapse of the left lung due to malformation of lung tissue. Cytogenetic studies confirmed terminal deletion of the short arm of chromosome 9 distal to band p22 [46,XY,del(9)(p22?pter)]. This is the first reported case of a de novo deletion 9p syndrome associated with pulmonary hypoplasia. This finding contributes to the widening of the spectrum of phenotypic features associated with deletion 9p syndrome.

Sirisena ND; Wijetunge UK; de Silva R; Dissanayake VH

2013-01-01

164

PRENATAL CONGENITAL CYSTIC ADENOMATOID MALFORMATION DETECTED COINCIDENTALLY BY OBSTETRIC ULTRASOUND EXAMINATION  

Directory of Open Access Journals (Sweden)

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

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

2009-01-01

165

Surgical management of thoracic anomalies in infants. Respiratory-tract malformations, congenital chylothorax and mediastinal masses.  

UK PubMed Central (United Kingdom)

The clinical presentation and surgical treatment of thoracic anomalies--developmental malformations of the respiratory tract, congenital chylothorax or mediastinal masses--in 15 infants are reported. The age range at operation was 2 weeks to 8 months. The diagnoses were lobar emphysema (3 cases), bronchogenic cyst (3), cystic adenomatoid malformation (1), enteric duplication (2), hyperplastic thymus (2), neuroblastoma (1), chylothorax (1), cystic lymphangiectasia (1) and tracheal stenosis (1). The most common symptom was respiratory embarrassment, with acute development in half of the cases. The diagnosis could be established or suspected from chest radiography in 14 of the 15 infants. All were submitted to thoracotomy. None died postoperatively, but three had major complications. At postoperative follow-up 13 of 14 patients were free from respiratory symptoms.

Toftdahl DB; Sørensen HR

1988-01-01

166

Surgical management of thoracic anomalies in infants. Respiratory-tract malformations, congenital chylothorax and mediastinal masses.  

Science.gov (United States)

The clinical presentation and surgical treatment of thoracic anomalies--developmental malformations of the respiratory tract, congenital chylothorax or mediastinal masses--in 15 infants are reported. The age range at operation was 2 weeks to 8 months. The diagnoses were lobar emphysema (3 cases), bronchogenic cyst (3), cystic adenomatoid malformation (1), enteric duplication (2), hyperplastic thymus (2), neuroblastoma (1), chylothorax (1), cystic lymphangiectasia (1) and tracheal stenosis (1). The most common symptom was respiratory embarrassment, with acute development in half of the cases. The diagnosis could be established or suspected from chest radiography in 14 of the 15 infants. All were submitted to thoracotomy. None died postoperatively, but three had major complications. At postoperative follow-up 13 of 14 patients were free from respiratory symptoms. PMID:3387951

Toftdahl, D B; Sørensen, H R

1988-01-01

167

Congenital malformations among live births at arvand hospital, ahwaz, iran - a prospective study  

International Nuclear Information System (INIS)

The aim of the study was to determine the profile of congenital malformations (CM) among live births at Arvand hospital, in Ahwaz city. In this prospective study all of the neonates born at Arvand hospital in Ahwaz from 2004 to 2006 were registered. Stillbirths and those who died in a few hours after birth were excluded and finally 4660 newborns were enrolled. Of the 4660 live births 94 (20.2/1000) had at least a CM. The predominant systems involved were musculoskeletal (7.9/1000), followed by genitourinary (7.1/1000), central nervous (2.4 /1000), digestive (1.1/1000) and chromosomal anomalies (0.9/1000). Although the frequency of malformations in the study was approximately similar to other investigations, if we include abortions, stillbirths and if we used screening tests and genetic studies, this rate was more than 20.1/1000. (author)

2008-01-01

168

[Comments on classification and terminology of congenital malformations in lower arm and hand (author's transl)  

UK PubMed Central (United Kingdom)

It is the aim of this paper to draw attention to the problems facing the clinician when he tries to find a suitable nomenclature and classification of congenital malformations of the forearm and hand. The classification presented here takes into consideration the so-called Paris Nomenclature of 1969, as well as the systematisation of limb defects of the Working Group of the International Society for Prosthetics and Orthetics (commented upon by Henkel and al 1979), as well as the systematic organisation of malformations of the forearm and hand by Müller (1937), Werthemann (1952), Hopf (1959) and Witt, Cotta, Jäger (1966). On no account may this be regarded as a rigid and final setup. Efforts to achieve greater precision are still under way as before, with special emphasis on significant information supplied by teratology, embryology, genetics and biochemistry.

Cotta H; Rauterberg K

1981-02-01

169

3p partial trisomy and 13q partial monosomy with congenital malformations and psychomotor developmental delay.  

UK PubMed Central (United Kingdom)

We examined a girl presenting neuropsychomotor developmental delay and multiple malformations including antenatal and postnatal growth retardation, congenital heart defect, and facial dysmorphisms. Cytogenetic analysis was performed on peripheral blood lymphocytes with the GTG-banding technique, which revealed an unbalanced translocation: 46,XX,der(13)(13pter?13q34::3p24?3pter)pat. Karyotype analysis of the father demonstrated a balanced translocation, 46,XY,t(3;13)(p24;q34), indicating the inheritance of the derivative chromosome 13. The mother karyotype was normal. We suggest that most of the structural malformations seen in this patient are due to the 3p trisomy, while the neuropsychomotor alterations are a consequence of both chromosome aberrations.

Rodovalho-Doriqui MJ; Freitas PL; Pinho JD; Cavalli LR; Pereira SR

2013-01-01

170

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

Energy Technology Data Exchange (ETDEWEB)

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

Sever, L.E.; Hessol, N.A.; Gilbert, E.S.; McIntyre, J.M.

1988-02-01

171

Multiple congenital vertebral anomalies identified with multidetector CT  

Directory of Open Access Journals (Sweden)

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

Altunkas A; Sarikaya B

2009-01-01

172

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

Scientific Electronic Library Online (English)

Full Text Available Abstract in portuguese Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: (more) 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18%) representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas. Abstract in english We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's (more) syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.

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

2000-12-01

173

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

Directory of Open Access Journals (Sweden)

Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.Neste estudo investigamos a organização cromossômica de pacientes com retardo mental e/ou malformações congênitas, visando a avaliação de causas genéticas associadas a estes distúrbios. Os padrões de bandas GTG e CBG foram estudados a partir da cultura de linfócitos de sangue periférico, estimulados por fitohemaglutinina M. Dentre os 98 indivíduos portadores de retardo mental e/ou malformações congênitas analisados, diagnosticamos as seguintes síndromes: 12 casos de Down, dois de Edwards, um de Patau, cinco de Turner, dois de Klinefelter, um de "cri-du-chat", e um caso de translocação balanceada entre os cromossomos 13 e 14, um caso de cromossomo derivado e um outro de cromossomo marcador. Encontramos anomalias cromossômicas em 26% dos pacientes, das quais 82% eram alterações numéricas e o restante (18%) representou rearranjos estruturais. Este percentual significativo enfatiza o uso da cariotipagem de rotina em pacientes com retardo mental e/ou malformações congênitas.

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

2000-01-01

174

Treatment of congenital pulmonary airway malformation induced hydrops fetalis via percutaneous sclerotherapy.  

Science.gov (United States)

Large type II and III congenital pulmonary airway malformations (CPAMs) can cause pulmonary hypoplasia, non-immune hydrops fetalis and fetal demise. Fetal intervention is indicated if hydrops fetalis develops. In this report, we describe three cases of type II and III CPAMs complicated by hydrops and treated with percutaneous sclerotherapy by ethanolamine injection into the tumor. All 3 cases demonstrated reduction in size of the CPAM and resolution of the hydrops with subsequent delivery at term. We believe that fetal percutaneous sclerotherapy can be used as a minimally invasive palliative strategy to treat CPAM-induced hydrops fetalis. Further studies are needed to delineate the risks of this novel technique. PMID:22354268

Lee, Frances L; Said, Nellie; Grikscheit, Tracy C; Shin, Cathy E; Llanes, Arlyn; Chmait, Ramen H

2012-02-18

175

Treatment of congenital pulmonary airway malformation induced hydrops fetalis via percutaneous sclerotherapy.  

UK PubMed Central (United Kingdom)

Large type II and III congenital pulmonary airway malformations (CPAMs) can cause pulmonary hypoplasia, non-immune hydrops fetalis and fetal demise. Fetal intervention is indicated if hydrops fetalis develops. In this report, we describe three cases of type II and III CPAMs complicated by hydrops and treated with percutaneous sclerotherapy by ethanolamine injection into the tumor. All 3 cases demonstrated reduction in size of the CPAM and resolution of the hydrops with subsequent delivery at term. We believe that fetal percutaneous sclerotherapy can be used as a minimally invasive palliative strategy to treat CPAM-induced hydrops fetalis. Further studies are needed to delineate the risks of this novel technique.

Lee FL; Said N; Grikscheit TC; Shin CE; Llanes A; Chmait RH

2012-01-01

176

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

177

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)

2009-01-01

178

Current Management of Epilepsy and Pregnancy: Fetal Outcome, Congenital Malformations, and Developmental Delay.  

UK PubMed Central (United Kingdom)

Purpose. Women with epilepsy (WWE) reportedly have increased rates of pregnancy complications and poor fetal outcomes related to both their epilepsy and antiepileptic drugs (AEDs). These results influence decisions about conceiving. Most published studies evaluate WWE treated before 1990. We sought to better define risks to pregnant WWE at a tertiary care center, which used current epilepsy guidelines.Methods. We retrospectively analyzed 100 consecutive pregnancies in WWE from 1990 to 2000. Maternal data: epilepsy syndrome, duration, AEDs used, seizure occurrence and frequency, delivery type and complications. Fetal outcomes: fetal birth weight (FBW), gestational age, incidence of prematurity, major and minor congenital malformations, developmental delay.Results. Maternal factors: 37% generalized and 63% partial epilepsies, 59% seizure-free throughout pregnancy, 30% increased and 22% decreased seizure frequency, 90% used AEDs, 21% required polytherapy, 98% took folate, and 48% with gestational seizures delivered by cesarean section, compared with 18% without seizures (P < 0.01). Fetal outcome: Mean FBW and gestational ages similar regardless of AED usage or exposure to maternal seizures, 3.9% prematurity, no cases of still birth or neonatal hemorrhagic disorder, 1.1% of children exposed to AEDs had major congenital malformations, and 6.2% of offspring had pervasive developmental delay (PDD).Conclusions. All fetal outcomes were similar to outcomes for the general population, with the exception of higher rates of PDD and cesarean section. In our small sample of WWE treated with current epilepsy management, the majority had excellent outcomes. Future large studies must confirm this.

Katz JM; Pacia SV; Devinsky O

2001-04-01

179

[Folic acid and congenital malformation: scientific evidence and public health strategies  

UK PubMed Central (United Kingdom)

In Italy at least 3% of babies are born with some congenital malformation. The intake of folic acid (FA) prior to conception and during the early stages of pregnancy plays an important role in preventing neural tube defects, severe anomalies of brain embryogenesis, and other malformations such as cardiac and urinary tract anomalies, oro-facial clefts and limb reduction defects. The Italian Network for Folic Acid Promotion, coordinated by the National Center on Rare Diseases of the Italian National Institute of Health, has elaborated and diffused a recommendation for the periconceptional FA supplementation: "Women of child-bearing age, are recommended to consume 0,4 mg/day of FA, to reduce the risk of congenital defects. The intake of folic acid should start at least one month before the conception and should continue for the first quarter of pregnancy". This paper discusses various strategies in order to promote FA intake during periconceptional period. Food fortification, adopted in several countries such as USA, has raised concerns about the risk of an excessive FA intake which may lead to adverse effect such as tumour promotion. Currently, periconceptional supplementation and healthy dietary habits promotion appear to be the most effective strategies.

Salerno P; Bianchi F; Pierini A; Baldi F; Carbone P; Mantovani A; Taruscio D

2008-11-01

180

Methodological review of ventricular anatomy--the basis for understanding congenital cardiac malformations.  

Science.gov (United States)

The ventricular mass extends from the atrioventricular to the ventriculo-arterial junctions. The junctions are obvious anatomic entities and provide discrete boundaries for the ventricles, which can then be subdivided into inlet, apical, and outlet components. The apical trabecular components are most constantly present when hearts are congenitally malformed. Abnormal ventricles, such as found in such congenitally malformed hearts, can be analysed according to the way in which the inlet and outlet components are shared between these apical components. The interrelationships of the right and left ventricles permit distinction of two specific patterns, which are mirror images of one another and which can be described in terms of right-handed and left-handed ventricular topology. It is exceedingly rare to find truly solitary ventricles. The conduction tissues are the only parts of the ventricular walls that are insulated within the working myocardial mass. Anomalous accessory muscular connections are the substrate for the Wolff-Parkinson-White syndrome. This article is part of a JCTR special issue on Cardiac Anatomy. PMID:23225359

Spicer, Diane E; Anderson, Robert H

2012-12-08

 
 
 
 
181

Methodological review of ventricular anatomy--the basis for understanding congenital cardiac malformations.  

UK PubMed Central (United Kingdom)

The ventricular mass extends from the atrioventricular to the ventriculo-arterial junctions. The junctions are obvious anatomic entities and provide discrete boundaries for the ventricles, which can then be subdivided into inlet, apical, and outlet components. The apical trabecular components are most constantly present when hearts are congenitally malformed. Abnormal ventricles, such as found in such congenitally malformed hearts, can be analysed according to the way in which the inlet and outlet components are shared between these apical components. The interrelationships of the right and left ventricles permit distinction of two specific patterns, which are mirror images of one another and which can be described in terms of right-handed and left-handed ventricular topology. It is exceedingly rare to find truly solitary ventricles. The conduction tissues are the only parts of the ventricular walls that are insulated within the working myocardial mass. Anomalous accessory muscular connections are the substrate for the Wolff-Parkinson-White syndrome. This article is part of a JCTR special issue on Cardiac Anatomy.

Spicer DE; Anderson RH

2013-04-01

182

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

Energy Technology Data Exchange (ETDEWEB)

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

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

1997-08-01

183

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

Directory of Open Access Journals (Sweden)

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

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

2007-01-01

184

[A case-control study on the risk factor of perinatals' congenital malformations in seven cities of Guangxi].  

UK PubMed Central (United Kingdom)

OBJECTIVE: To investigate the possible risk factors of congenital malformations in cities of Guangxi. METHODS: A case-control study was carried out on 281 cases of congenital malformations and 730 controls. Analysis of simple factor and multiple factors unconditional logistic regression were done. RESULTS: The analysis of simple factor and multiple factors showed that main risk factors of congenital malformations as multiple pregnancies (OR = 2.6), pregnancy complications (OR = 3.2), exposure to chemical substances before or during pregnancy (OR = 3.0), taking sedatives (OR = 10.2), hormone drug (OR = 9.4) or Chinese herbal medicines (OR = 2.5) during the early stage of pregnancy, mothers' blood type as AB (OR = 3.5) or A (OR = 2.2), mothers' emotion being nervous and melancholy (OR = 2.6), mothers' occupation being workers (OR = 3.8) or peasants (OR = 3.0), fathers' exposure to noise (OR = 5.7) or suffering from chronic diseases (OR = 2.8). CONCLUSIONS: Some risk factors were identified as having important effect on perinatal congenital malformations, including taking sedatives, hormone drug or Chinese herbal medicines during the early stage of pregnancy, mothers' emotion being nervous and melancholy, multiple pregnancies, pregnancy complications, exposure to chemical substances before or during pregnancies, mothers' blood type as AB or A, mothers' occupation being workers or peasants, fathers' exposure to noise or suffering from chronic diseases.

Qiu XQ; Zeng XY; Qin DD; Zhong XH; Lin MJ; Zhang HL; Huang D

2003-06-01

185

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at a gestational age of 23 weeks the fetal perineal mass were found on the...

Ahn, Ki Hoon; Boo, Yoon Jung; Seol, Hyun Joo; Park, Hyun Tae; Hong, Soon Cheol; Oh, Min Jeong; Kim, Tak; Kim, Hai Joong

186

Anesthesia experience in a child affected by congenital cystic adenomatoid malformation and retinopathy of prematurity for eye laser procedure--a case report.  

Science.gov (United States)

Congenital Cystic Adenomatoid Malformation or bronchopulmonary displasia (congenital lung cysts disease) is a rare condition. Intrauterine death affect severe cases, those infants surviving till birth lead a chronic course of respiratory illness amenable to corrective thoracic surgery or other corrective measures for non pulmonary conditions. This report describes an experience with one girl that needed anesthesia for congenital retinopathy's laser treatment. PMID:21991743

Takrouri, Mohamad Said Maani; Maghaireh, Abdulbaset; Obeidat, Mohammed Rushdi

2011-02-01

187

Malformaciones congénitas y patología crónica de la madre.: Estudio ECLAMC 1971-1999 Association between congenital malformations and chronic diseases of the mother  

Directory of Open Access Journals (Sweden)

Full Text Available Background: Several maternal diseases, such as diabetes mellitus or high blood pressure, are associated with a higher risk for fetal or neonatal problems. Aim: To study the association between chronic diseases of the mother and congenital malformations. Material and methods: Review of the records of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) at the University of Chile Clinical Hospital. A sample of 383 mothers with a chronic disease was compared with 297 healthy mothers. The presence of congenital malformations in the newborns was studied. The odds ratio (OR) of a mother to have a child with a congenital malformation was calculated. Results: Mothers with bronchial asthma, diabetes mellitus, hypertension and hypothyroidism had an OR over 1 of having a child with a congenital malformation. No association between maternal obesity and offspring malformations was observed. Offspring of diabetic mothers had 8.95 times more probabilities of having a major malformation and 4.95 times more probabilities of having a minor defect. Conclusions: Offspring of mothers with diabetes mellitus, bronchial asthma, hypertension or hypothyroidism have a higher risk of presenting a congenital malformation, when compared with offspring of healthy mothers (Rev Méd Chile 2003; 131: 404-11).

María Paz Ordóñez A; Julio Nazer H; Alfredo Aguila R; Lucía Cifuentes O

2003-01-01

188

[Examining the impact of solar activity on the incidence of congenital malformations  

UK PubMed Central (United Kingdom)

The investigation revealed statistically significant positive and negative correlations between the impact of solar activity (SA) and the incidence of congenital malformations (CM). As SA decreased, the incidence of multiple CM, defects of the musculoskeletal system, and those as a whole increased, but among the nosological entities, there was a rise in the prevalence of diaphragmatic hernia and omphalocele. At the same time, increased SA determines the higher incidence of abnormalities of the central nervous system, sensory organs, face and neck, anencephalies, and cleft lips. The maximum influence of SA was established for CM of the skin (56.25%), face and neck (53.46%); and among the nosological entities of CM that was for the cleft lip (60.65%) and cerebrospinal hernia (46.51%).

Verzilina IN; Agarkov NM; Churnosov MI

2008-09-01

189

[Congenital malformations of the genitourinary tract in children with Smith-Lemli-Opitz syndrome  

UK PubMed Central (United Kingdom)

Smith-Lemli-Opitz (SLO) syndrome is an autosomal, recessive condition. The essence of SLO is abnormal metabolism of cholesterol which is characterized by decreased level of cholesterol and increased level of 7-dihydrocholesterol in serum. The main clinical features are mental retardation and congenital malformations of various organs and systems--microcephaly, syndactyly, craniofacial anomalies, cleft palate and genitourinary system, mainly external genitalia. We analyzed the group of 12 children (2 girls and 10 boys) treated due to SLO in The Children's Memorial Health Institute since 1982 to 1997. In boys we diagnosed: penile curvature; hypospadia without hypospadias; glandular, penile and scrotal hypospadia, undescended; hydrocele testis; mild unilateral hydronephrosis and in girls we reported moderate hypertrophy of clitoral preputium and stenosis of external urethral meatus. The surgical treatment was planned.

Wolski JK; Krajewska-Walasek M; Szymkiewicz C

1998-01-01

190

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

International Nuclear Information System (INIS)

[en] In the study described here an attempt was made to draw from a wide range of different sources data on the induction of congenital anomalies (malformations or defects existing at birth) by ionising and non-ionising rays during the various stages of gestation. This survey was chiefly based on findings in humans, results from animal experiments were solely included in cases where no suitable material was available for Man. (orig.)[de] In der vorliegenden Studie wurde versucht, moeglichst umfassend Daten ueber die Induktion von kongenitalen Anomalien (angeborene Missbildungen bzw. Fehlbildungen) durch ionisierende und nichtionisierende Strahlen bei dem sich im Mutterleib entwickelnden Kind zusammenzutragen. Der Schwerpunkt wurde auf Daten von Menschen gelegt; nur wenn diese nicht vorlagen, wurde auf tierexperimentelle Ergebnisse zurueckgegriffen. (orig.)

1990-01-01

191

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

International Nuclear Information System (INIS)

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

1990-01-01

192

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

UK PubMed Central (United Kingdom)

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

Kim YJ; Kim do Y; Seo JW; Lee SA; Hwang JJ; Kim HJ; Lee KY

2013-01-01

193

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; Ho Binh TT; Phuong Cam N; Stensballe Lone G; Greisen Gorm; Pedersen Freddy K

2012-01-01

194

A cytogenetic study of children with clinically unclassifiable multiple congenital malformations and mental retardation.  

Directory of Open Access Journals (Sweden)

Full Text Available A cytogenetic study was performed on 74 children with at least three major or minor congenital malformations and mental retardation, and whose phenotypes did not fit any well-defined syndrome. The chromosomes were examined routinely using banding techniques. A total of 11 patients (14.9%) was found to have a major chromosome abnormality: one patient had a sex chromosome structural abnormality and 10 patients had an autosomal structural abnormality, including 4 patients with partial trisomies, 4 patients with partial monosomies, and 2 patients with tertiary trisomies. Two of them had probable intrachromosomal duplication which would not have been identified by conventional staining alone. Familial transmission was ascertained in 5 of 10 cases in which both parents were studied. In addition, 5 patients (6.8%) were noted to have the following chromosome heteromorphisms: partial inv 1qh, inv 9qh, 9qh+, and Yqh+. These results show that chromosome abnormalities contribute much to the etiology of unclassifiable multiple malformations associated with mental retardation. Furthermore, the demonstration of subtle chromosome rearrangements by means of banding techniques provides important implications in medical practice for the diagnosis of affected patients as well as for the genetic counseling of the families.

Harahara,Kouji

1981-01-01

195

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

Directory of Open Access Journals (Sweden)

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

Sui-Ling Liao; Shen-Hao Lai; Chuen Hsueh; Kin-Sun Wong

2010-01-01

196

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; Ramiro López-Pulles

2010-01-01

197

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

Directory of Open Access Journals (Sweden)

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; Lucía Cifuentes O; Francisca Millán Z; Paola Vacarisas A; Stephanie Köbrich Sch; Alfredo Aguila R

2008-01-01

198

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

Science.gov (United States)

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

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

2013-01-01

199

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

UK PubMed Central (United Kingdom)

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.

Anderson C; Devine WA; Anderson RH; Debich DE; Zuberbuhler JR

1990-02-01

200

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

 
 
 
 
201

[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)].  

UK PubMed Central (United Kingdom)

OBJECTIVES: To review clinical and epidemiologic data of orofacial clefts and to evaluate the efficacy and the impact of prenatal diagnosis. MATERIAL AND METHODS: A population-based retrospective study was carried out on data from the Congenital Malformations of Alsace Registry (France) between 1995 and 2006. RESULTS: A total of 321 orofacial clefts were recorded (overall prevalence, 2.1 per 1000), divided into cleft lip (CL) or cleft lip palate (CLP) (204 cases) and cleft palate (117 cases). The cleft lip and cleft lip palate CL±P sex-ratio was 1.87, whereas the CP sex-ratio was 1. CLs were more often unilateral than CLPs (79% versus 59%). CLs were unilateral in 79% of the cases (60/76), bilateral in 20% of the cases (15/76), and median in 1% (1/76); 55% of the unilateral CLs were right and 45% were left. CLPs were unilateral in 59% of the cases (76/128), bilateral in 39% of the cases (50/128), and median in 2% (2/128); 45% of the unilateral CLPs were right and 55% were left. The 117 CPs were divided into 50 clefts of the total palate (43%) and 67 clefts of the posterior palate (57%); 25 cases (21%) of Pierre Robin sequence were collected. Sixty-six percent of CL±P (134/204) were associated with other congenital anomalies, including chromosome abnormality in 31 cases and identified monogenic syndrome or association in 12 cases. The most frequent chromosome abnormalities were 16 cases of trisomy 13 and 7 cases of trisomy 18. No cases of 22q11.2 microdeletion or duplication were detected among CL±P. Monogenic syndromes were identified in 6% (12/204) of CL±P cases: Van der Woude syndrome (2 cases); CHARGE syndrome (2 cases); ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome (2 cases); branchiooculofacial (BOF) syndrome (1 case); Treacher-Collins syndrome (1 case); Nager syndrome (1 case); Goldenhar syndrome (1 case); holoprosencephaly spectrum (1 case); and Meckel syndrome (1 case). Forty-two percent of CPs (49/117) were associated with other congenital anomalies; chromosome abnormality was identified in 12 cases and monogenic syndrome was diagnosed in 14 cases. The most frequent chromosome abnormality was 22q11 microdeletion (5 cases). Monogenic syndromes were recognized in 12% of the CP cases (14/117): fragile X syndrome (2 cases), Meckel syndrome (2 cases), Orofaciodigital syndrome type I (OFD1) (1 case), Stickler syndrome (1 case), Larsen syndrome (1 case), Kniest syndrome (1 case), Cornelia de Lange syndrome (1 case), thanatophoric dysplasia (1 case), other unknown bone chondrodysplasia (1 case), Fryns syndrome (1 case), fetal akinesia sequence (1 case), and Silver-Russel syndrome (1 case). Fifty-two percent of CL cases (106/204) were prenatally diagnosed. An increasing tendency was observed between the 1995-2000 and 2001-2006 periods with a detection rate increasing from 47% to 56%. During the whole period, only 1 case of CP was prenatally diagnosed. Eighty-two percent of all cases (263/321) were livebirths; 8 stillbirths were reported (2%); 50 syndromic or associated cases (16%) led to medical abortion (no termination of pregnancy was performed for isolated cleft). CONCLUSION: Orofacial clefts are a frequent malformation with a total prevalence of 2.1 per 1000 total births. Sonbographic prenatal diagnosis of orofacial clefts remains difficult with a mean detection rate about 50% for CL±P and is extremely rare for CP. Associated malformations and genetic syndromes are frequent and require a systematic survey. This study also highlights the different pathogenic background of CL±P compared to CP, regarding the sex-ratio and the proportion and type of associated malformations.

Doray B; Badila-Timbolschi D; Schaefer E; Fattori D; Monga B; Dott B; Favre R; Kohler M; Nisand I; Viville B; Kauffmann I; Bruant-Rodier C; Grollemund B; Rinkenbach R; Astruc D; Gasser B; Lindner V; Marcellin L; Flori E; Girard-Lemaire F; Dollfus H

2012-10-01

202

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

Scientific Electronic Library Online (English)

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

Rojas, Mariana; Walker, Laura

2012-12-01

203

The relations of the mastoid segment of the facial canal to surrounding structures in congenital middle ear malformations.  

UK PubMed Central (United Kingdom)

The authors investigated the relations between the mastoid segment of the facial canal and the temporomandibular joint, the posterior wall of the cavum tympani and the external wall of the mastoid process in 19 cases with congenital ear malformations and 10 cases with normal ears. A significantly reduced distance was found between the facial canal and the temporomandibular joint as well as between the facial canal and the posterior wall of the cavum tympani in the groups with malformed ears as compared to the control group with normal ears.

Savi? D; Jasovi? A; Djeri? D

1989-09-01

204

A method of detecting the presence of a genetic marker associated with a bovine complex vertebral malformation (CMV)  

UK PubMed Central (United Kingdom)

Genetic markets for identifying bovine carriers of complex vertebral malformation (CVM) disease gene are described. The genetic markers, including the microsatellite markers BM4129, INRAA003, BMS2790, ILSTS029, INRA123, BM220, HUJ246, BMS862, BMS937, BL1048, BMS2095 and BMS1266 and the bovine SLC35A3 gene, are located on bovine chromosome BTA3. A G/T polymorphism at position 559 of the bovine SLC35A3 gene is identified as being causative and diagnostic for CVM in cattle.

BENDIXEN CHRISTIAN; SVENDSEN SOREN; JENSEN HELLE; PANITZ FRANK; AASBERG ANDERS; HOLM LARS-ERIK; HORN PER; HOJ ANETTE; THOMSEN BO; NIELSEN VIVI HUNNICKE; JONKER MARC; JEPPESEN METTE

205

Mortalidad infantil por malformaciones congénitas en Argentina: análisis del quinquenio 2002-2006/ Analysis of infant mortality from congenital malformations in Argentina during the 2002-2006 period  

Scientific Electronic Library Online (English)

Full Text Available Abstract in spanish Objetivo. Analizar la distribución espacial y temporal de la mortalidad infantil por malformaciones congénitas en la Argentina entre 2002-2006. Materiales y métodos. Los datos provinieron del Ministerio de Salud. Las malformaciones congénitas se clasificaron según la Clasificación Internacional de Enfermedades, décima revisión. Se calcularon por departamentos, provincias y regiones, componentes de la mortalidad infantil (neonatal precoz y tardía y postneonatal), (more) subconjuntos de malformaciones congénitas y malformaciones específicas: a) porcentaje de muertes por malformaciones congénitas; b) tasa de mortalidad infantil por malformaciones congénitas. Ambos indicadores se correlacionaron con la latitud/longitud departamental. Resultados. La tasa de mortalidad infantil por malformaciones congénitas fue de 3,33‰ y el porcentaje de muertes por malformaciones congénitas de 22,7%. Ambos indicadores exhibieron gran variabilidad espacial y no se correlacionaron con latitud/longitud. La tasa de mortalidad infantil por malformaciones congénitas y el porcentaje de muertes por malformaciones congénitas más bajos se presentaron en Patagonia y Noroeste argentinos respectivamente. El período neonatal precoz presentó la tasa de mortalidad infantil por malformaciones congénitas más altas y el porcentaje de muertes por malformaciones congénitas superó el 20% en los 3 períodos. El Noroeste y el Noreste argentino presentaron el porcentaje de muertes por malformaciones congénitas más bajos en los tres componentes de la mortalidad. Conclusiones. El patrón de mortalidad infantil por malformaciones congénitas de la Argentina es semejante al de países desarrollados caracterizándose por una disminución de la tasa de mortalidad infantil por malformaciones congénitas y aumento del porcentaje de muertes por malformaciones congénitas con una contribución preponderante de las malformaciones congénitas cardíacas y del sistema nervioso. Abstract in english Objective. To analyze the trend and spatial distribution of infant mortality from congenital malformations in Argentina between 2002 and 2006. Materials and methods. Data were provided by the Ministry of Public Health. Congenital malformations were classified according to the International Clasification of Diseases, 10th revision. Early neonatal, late neonatal and postneonatal infant mortality components, congenital malformations subgroups and specific malformations were (more) estimated by departments, provinces, and regions to determine: a) Congenital malformations- related death rate; b) infant mortality rate due to congenital malformations. Both indicators were correlated with the respective departmental latitude/longitude. Results. Infant mortality rate due to congenital malformations was 3,33‰ and congenital malformations- related death rate 22,7%. Both indicators showed great spatial variability and did not correlate to latitude/longitude. The lowest infant mortality rate due to congenital malformations and congenital malformations-related death rates were found in Patagonia and the Argentine northeast, respectively. The early neonatal period showed the highest infant mortality rate due to congenital malformations and congenital malformations-related death rates was over 20% in the 3 periods. The Argentine northwest and Argentine northeast showed the lower congenital malformations rates-related death rates in the three components than Centro, Cuyo and Patagonia. Conclusions: The pattern of infant mortality from congenital malformations in Argentina is similar to that of developed countries, characterized by a decrease of infant mortality rate due to congenital malformations and increase of congenital malformations-related death rates, with a prevailing contribution of heart and nervous system malformations.

Bronberg, Rubén; Alfaro, Emma; Chaves, Estela; Dipierri, José

2009-06-01

206

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

DEFF Research Database (Denmark)

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

Sun, Yuelian; Overvad, Kim

2013-01-01

207

The development of personal computer-based medical consultation system for diagnosis of congenital malformation syndromes using MUMPS.  

UK PubMed Central (United Kingdom)

This paper describes a medical consultation system for diagnosis of congenital malformation syndromes. The system consists of a personal computer, NEC PC-98XL (MS-DOS), using SP-MUMPS for the retrieval of knowledge data, and BASIC for the input/output of image data. This system displays pictorial knowledge and is designed so users can build up the knowledge base, as needed, by adding knowledge from medical literature and records of patients actually treated.

Yamamoto K; Sudo M; Shigematsu Y; Fukui M; Masukawa J

1990-10-01

208

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

Directory of Open Access Journals (Sweden)

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.

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

2010-01-01

209

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 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 Norte. Durante o período foram recebidos 1.347 materiais de ruminantes para diagnóstico, desses 47 (3,48%) foram dignosticados como malformações congênitas. Com b (more) ase 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 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 malform (more) ations. 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 negat

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

2010-10-01

210

A single posterior approach for multilevel modified vertebral column resection in adults with severe rigid congenital kyphoscoliosis: a retrospective study of 13 cases  

Digital Repository Infrastructure Vision for European Research (DRIVER)

We report a multilevel modified vertebral column resection (MVCR) through a single posterior approach and clinical outcomes for treatment of severe congenital rigid kyphoscoliosis in adults. Transpedicular eggshell osteotomies and vertebral column resection are two techniques for the surgical treatm...

Wang, Yan; Zhang, Yonggang; Zhang, Xuesong; Huang, Peng; Xiao, Songhua; Wang, Zheng; Liu, Zhengsheng; Liu, Baowei; Lu, Ning

211

Rhabdomyomatous dysplasia of the newborn lung associated with multiple congenital malformations of the heart and great vessels.  

UK PubMed Central (United Kingdom)

Interstitial proliferation of striated muscle in the lung is extremely rare. Most cases are associated with other congenital malformations, such as lung sequestration, diaphragmatic hernia, or cardiac malformations. We describe a newborn with rhabdomyomatous dysplasia of the lung associated with multiple congenital malformations of the heart and great vessels. The female neonate was born at 37 weeks of gestation as the second child to a 31-year-old woman without relevant previous medical or family history. In week 26 of gestation, a complex heart malformation and polyhydramnion were diagnosed by ultrasound. Postnatally, right lung hypoplasia, a bilobar right and left lung, anomalous drainage of the pulmonary veins, atrial and ventricular septal defects, and double-outlet right-ventricle and multiple aortopulmonary collaterals were described. Histological examination of a biopsy of the right lung demonstrated the presence of numerous bundles of striated muscle fibers arranged randomly in the pulmonary interstitium. Unilateral resection of the right lung was not a therapeutic option, because the left lung had developed bronchopulmonary dysplasia with severe reduction in gas exchange as a consequence of long-term mechanical ventilation. Symptomatic relief and palliative cardiac surgery were offered. At age 5 months, the infant died of a pulmonary hemorrhage following cardiac surgery.

Lienicke U; Hammer H; Schneider M; Heling K; Wauer RR; Mau H; Vogel M

2002-09-01

212

Rhabdomyomatous dysplasia of the newborn lung associated with multiple congenital malformations of the heart and great vessels.  

Science.gov (United States)

Interstitial proliferation of striated muscle in the lung is extremely rare. Most cases are associated with other congenital malformations, such as lung sequestration, diaphragmatic hernia, or cardiac malformations. We describe a newborn with rhabdomyomatous dysplasia of the lung associated with multiple congenital malformations of the heart and great vessels. The female neonate was born at 37 weeks of gestation as the second child to a 31-year-old woman without relevant previous medical or family history. In week 26 of gestation, a complex heart malformation and polyhydramnion were diagnosed by ultrasound. Postnatally, right lung hypoplasia, a bilobar right and left lung, anomalous drainage of the pulmonary veins, atrial and ventricular septal defects, and double-outlet right-ventricle and multiple aortopulmonary collaterals were described. Histological examination of a biopsy of the right lung demonstrated the presence of numerous bundles of striated muscle fibers arranged randomly in the pulmonary interstitium. Unilateral resection of the right lung was not a therapeutic option, because the left lung had developed bronchopulmonary dysplasia with severe reduction in gas exchange as a consequence of long-term mechanical ventilation. Symptomatic relief and palliative cardiac surgery were offered. At age 5 months, the infant died of a pulmonary hemorrhage following cardiac surgery. PMID:12203852

Lienicke, Uta; Hammer, Hannes; Schneider, Martin; Heling, Kai; Wauer, Roland R; Mau, Harald; Vogel, Martin

2002-09-01

213

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

2013-01-30

214

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

UK PubMed Central (United Kingdom)

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.

Ekici AB; Strissel PL; Oppelt PG; Renner SP; Brucker S; Beckmann MW; Strick R

2013-04-01

215

Current Management of Epilepsy and Pregnancy: Fetal Outcome, Congenital Malformations, and Developmental Delay.  

Science.gov (United States)

Purpose. Women with epilepsy (WWE) reportedly have increased rates of pregnancy complications and poor fetal outcomes related to both their epilepsy and antiepileptic drugs (AEDs). These results influence decisions about conceiving. Most published studies evaluate WWE treated before 1990. We sought to better define risks to pregnant WWE at a tertiary care center, which used current epilepsy guidelines.Methods. We retrospectively analyzed 100 consecutive pregnancies in WWE from 1990 to 2000. Maternal data: epilepsy syndrome, duration, AEDs used, seizure occurrence and frequency, delivery type and complications. Fetal outcomes: fetal birth weight (FBW), gestational age, incidence of prematurity, major and minor congenital malformations, developmental delay.Results. Maternal factors: 37% generalized and 63% partial epilepsies, 59% seizure-free throughout pregnancy, 30% increased and 22% decreased seizure frequency, 90% used AEDs, 21% required polytherapy, 98% took folate, and 48% with gestational seizures delivered by cesarean section, compared with 18% without seizures (P WWE treated with current epilepsy management, the majority had excellent outcomes. Future large studies must confirm this. PMID:12609194

Katz, Jeffrey M.; Pacia, Steven V.; Devinsky, Orrin

2001-04-01

216

Genetics for the pediatric anesthesiologist: a primer on congenital malformations, pharmacogenetics, and proteomics.  

UK PubMed Central (United Kingdom)

Molecular genetics is the study, at the molecular level, of how genetic information is stored, inherited, and expressed and of how it influences the structure and function of cells in health and in disease. Although molecular approaches have been used for decades in the laboratory and are at the core of modern medical education, they are only now beginning to influence clinical practice. A variety of sophisticated techniques permit rapid and affordable DNA sequencing, gene expression profiling, gene cloning, gene manipulation, gene transfer, recombinant protein production, and other technologies of enormous biomedical importance. Success in genomics has spawned additional ambitious endeavors, including proteomics, pharmacogenomics, and bioinformatics. These techniques are providing new diagnostic, prognostic, and therapeutic opportunities in all areas of medicine, including anesthesiology. With the use of molecular criteria and the diminishing cost of analytic technologies, anesthetic practice will become more individualized, and greater emphasis will be placed on the patient's genetic makeup. Both surgical and nonsurgical decisions will increasingly accommodate molecular data crucial to perioperative anesthetic management. In this article we have summarized three lectures on congenital malformations, pharmacogenetics, and proteomics presented at the 22nd Annual Meeting of the Society for Pediatric Anesthesia.

Galinkin JL; Demmer L; Yaster M

2010-11-01

217

Antenatal diagnosis and surgical management of congenital cystic adenomatoid malformation of the lung.  

UK PubMed Central (United Kingdom)

We experienced 12 cases of congenital cystic adenomatoid malformation of the lung (CCAM) including 6 cases diagnosed antenatally. They were classified into three groups according to the clinical manifestations. Group A was associated with hydrops fetalis (n = 3), group B presented with respiratory distress symptoms after birth (n = 6), and group C showed no respiratory symptoms (n = 3). All cases of group A were lost because of hydrops and respiratory failure due to pulmonary hypoplasia. Because a compression of the mass is thought to be a cause of hydrops, this group is considered to be a good indication for fetal treatment. All cases of group B showed progressive respiratory symptoms a few days after birth which were successfully treated surgically. In 2 of 3 cases of group C, the lesions decreased in size both antenatally and postnatally. We conclude that serial sonographic evaluations for fetal CCAM are important. If the fetus develops hydrops, fetal surgery is to be considered. If not, however, fetal surgery should not be done, because some lesions can shrink in size, or even disappear, while others can be treated successfully after birth by lobectomy or even segmentectomy.

Taguchi T; Suita S; Yamanouchi T; Nagano M; Satoh S; Koyanagi T; Nakano H

1995-11-01

218

Characteristics of congenital cystic adenomatoid malformations associated with nonimmune hydrops and outcome.  

UK PubMed Central (United Kingdom)

BACKGROUND/PURPOSE: In fetuses with congenital cystic adenomatoid malformations of the lung (CCAMs), hydrops fetalis and large masses are associated with poor outcomes. This study attempts to (1) determine sonographic features (in addition to large size) that correlate with hydrops and (2) characterize the features that correlate with outcome among hydropic fetuses. METHOD: Charts and sonograms of fetuses with large, unilateral CCAMs were retrospectively reviewed. Mass features evaluated included laterality, macrocystic/microcystic, cystic/solid predominance, degree of mediastinal shift, retrocardiac component, diaphragm eversion, polyhydramnios, and mass-thorax ratio (MTR). Features of hydrops included degree of ascites, scalp and integumentary edema, pleural/pericardial effusion, and placentomegaly. RESULTS: Thirty-six fetuses with large CCAMs were studied: 27 with and 9 without hydrops. Three sonographic features were significantly associated with hydrops: MTR of at least 0.56, cystic predominance of mass, and eversion of hemidiaphragm. Of 27 fetuses with hydrops, 10 (37%) demonstrated all 3 features compared with none in those without hydrops (P = .04). All 9 nonhydropic fetuses were expectantly managed, and 100% survived. In the hydropic group, none of the expectantly managed fetuses survived, and 10 (43%) of the 21 fetuses who underwent fetal intervention survived. CONCLUSION: Three features of large CCAMs were significantly associated with hydrops: MTR, cystic predominance, and diaphragm eversion. Identification of these features will allow clinicians to accurately predict which fetuses may warrant closer follow-up and possible treatment.

Vu L; Tsao K; Lee H; Nobuhara K; Farmer D; Harrison M; Goldstein RB

2007-08-01

219

Prevalence and trends of selected congenital malformations in New York state, 1983 to 2007.  

UK PubMed Central (United Kingdom)

BACKGROUND: Major birth defects result in high infant mortality and morbidity. It is important to evaluate the burden of birth defects and trends for future intervention and public health improvement. Using the New York State (NYS) Congenital Malformations Registry data, we examined the prevalence and trends of birth defects among children in NYS during 25 years of surveillance. METHODS: Children who had any of the 21 selected birth defects and were born to NYS residents between 1983 and 2007 were selected. The prevalence of each defect was characterized by demographic and birth factors, and the prevalence ratio was calculated. Live births of NYS residents for the same birth year period were used as the denominators for calculating the prevalence. The prevalence trends of birth defects were analyzed by maternal age and race/ethnicity. RESULTS: Compared with non-Hispanic whites, we detected 33%, 21%, and 37% higher prevalence of encephalocele, lower limb deficiencies and omphalocele among non-Hispanic blacks, respectively, and 22% higher prevalence of gastroschisis among Hispanics. Increasing trends of gastroschisis and Down syndrome among non-Hispanic blacks and decreasing trends of spina bifida and limb deficiencies were observed in NYS. CONCLUSION: The findings from this study suggest the existence of racial disparities among children with selected birth defects in NYS. The increasing trends of gastroschisis and Down syndrome observed in NYS are consistent with nationwide trends. Birth Defects Research (Part A), 2013. © 2013 Wiley Periodicals, Inc.

Kim K; Wang Y; Kirby RS; Druschel CM

2013-08-01

220

[Congenital malformations in the offspring of epileptic mothers with and without anticonvulsant treatment].  

UK PubMed Central (United Kingdom)

OBJECTIVE: To determine the prevalence at birth and type of congenital malformations (CM) in newborns of epileptic mothers (NEM) treated and not treated with anticonvulsants, the correlation anticonvulsant/CM and other developmental disorders. MATERIALS AND METHODS: Multicenter case-control study, in 166 live births NEM diagnosed in 21 501 newborns with CM and respective controls from the Registro y Vigilancia Epidemiológica de Malformaciones Congénitas (RYVEMCE). RESULTS: The frequency of CM in NEM treated with anticonvulsants was higher (48.3%) than in NEM of untreated mothers (28.3%), (OR= 2.37 IC95% 1.08-5.40), p=0.03. CMs most frequently found were: spina bifida, limb reduction defects, cleft lip palate, microcephaly, anotia/microtia, hypospadias, polydactyly, cleft palate, anophthalmia/ microphthalmia and omphalocele. No differences among monotherapy and polytherapy were observed. Diphenyl-hydantoin, carbamazepine and valproic acid were the most frequently anticonvulsants used. CONCLUSIONS: Our results show the teratogenicity of epilepsy by itself, the synergistic effect of some anticonvulsants, and the need of an appropriate periconceptional control of the disease and treatment.

Arteaga-Vázquez J; Luna-Muñoz L; Mutchinick OM

2012-11-01

 
 
 
 
221

Utilization of genetic counseling by parents of a child or fetus with congenital malformation in North-East Italy.  

UK PubMed Central (United Kingdom)

Congenital malformations (CM) affect 2-3% of all births, the cause of which, when known, is genetic in 80-90% of cases. A genetic consultation (GC) is indicated for the parents of a child affected by a CM. This study analyzes the parental utilization of genetic counseling (GCU) and its possible influencing factors after termination of pregnancy (TOP) because of fetal anomalies or after the birth of a child affected by a major malformation. The study concerns cases in North-East Italy where there is a CM registry and a center-satellite system for genetic counseling. The results of this analysis are also compared to other similar studies, which address the same topic. Between 1981 and 2000, 1,235 out of 14,888 GC were performed because of the presence of a CM in a child/fetus. In the same period, 4,933 births and 1,112 TOPs were registered. The overall GCU was 19%, with significant differences according to malformative phenotype, severity of the malformative condition, type of birth, and viability. Genetic counseling was performed significantly sooner following TOP than after the birth of a malformed child. GCU showed an unequal distribution according to the parents' place of residence, suggesting that easy and equal access to the genetic service was probably not well provided for. Our results suggest that genetic services should be integrated with related services, and that the public and physicians need a greater awareness of these services.

Mammi I; Isabella M; Basile RT; Teresa BR; Bellato S; Silvano B; Belli S; Serena B; Benedicenti F; Francesco B; Boni S; Stefania B; Castellan C; Claudio C; Clementi M; Maurizio C; Di Gianantonio E; Elena DG; Petrella M; Marilena P; Turolla L; Licia T; Tenconi R; Romano T

2003-09-01

222

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

Scientific Electronic Library Online (English)

Full Text Available 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, co (more) nsiderando 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 prospectiva 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 clí (more) nicos, 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 crite (more) ria. 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

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

2010-10-01

223

A report of a rare congenital malformation in a Nepalese child with congenital pouch colon: a case report  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Congenital pouch colon is one of rare congenital anomalies. We report a 3-day-old male child with congenital pouch colon who underwent a window colostomy but died because of overwhelming sepsis. Due to its rarity, many surgeons in our part of the world may not be aware of it, hence increasing the po...

Shakya, Vikal Chandra; Agrawal, Chandra Shekhar; Koirala, Rabin; Khaniya, Sudeep; Poudel, Prakash; Adhikary, Shailesh

224

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

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 ...

Al Kaissi Ali; Chehida Farid; Ghachem Maher; Grill Franz; Klaushofer Klaus

225

Antiepileptic drug teratogenesis: what are the risks for congenital malformations and adverse cognitive outcomes?  

UK PubMed Central (United Kingdom)

Antiepileptic drug (AED) exposure in utero has been associated with major congenital malformations (MCMs) and adverse cognitive outcomes in the offspring of women with epilepsy (WWE). However, determining the exact risk and the relative risks of AEDs for these outcomes has been challenging, and only in recent years has improved study designs enabled us to get a clearer picture of the risks. Still, there is a startling lack of information for many of the newer and widely used AEDs. At this point of time, studies clearly show that valproate (VPA) as a part of polytherapy or when used as a monotherapy is associated with an increased risk of MCMs, and that it poses about threefold the risk of carbamazepine (CBZ). It is unclear if any other AEDs studied pose an increased risk of MCM occurrence; in the best available large study the absolute rates of MCMs with other several other AEDs were not different from untreated WWE. The absolute risks have been reported as CBZ 2.2%, lamotrigine (LTG) 3.2%, phenytoin (PHT) 3.7%, untreated WWE 3.5%, with VPA as the outlier at 6.2%. In utero VPA exposure is also associated with a risk of lower verbal intelligence quotient (IQ) in children, at approximately 10 points lower than controls. CBZ appears to pose no risk to cognitive outcome, and there is some evidence that PHT and phenobarbital (PB) may be associated with risk of reduced cognitive outcome. Polytherapy is associated with greater risk than monotherapy for both MCMs and cognitive outcome. Although more information is needed and hopefully will be obtained from ongoing prospective studies, it is clear that WWE taking VPA and planning pregnancy should have a discussion with their physician about considering changing to another AED before pregnancy, if possible.

Harden CL

2008-01-01

226

Antiepileptic drug teratogenesis: what are the risks for congenital malformations and adverse cognitive outcomes?  

Science.gov (United States)

Antiepileptic drug (AED) exposure in utero has been associated with major congenital malformations (MCMs) and adverse cognitive outcomes in the offspring of women with epilepsy (WWE). However, determining the exact risk and the relative risks of AEDs for these outcomes has been challenging, and only in recent years has improved study designs enabled us to get a clearer picture of the risks. Still, there is a startling lack of information for many of the newer and widely used AEDs. At this point of time, studies clearly show that valproate (VPA) as a part of polytherapy or when used as a monotherapy is associated with an increased risk of MCMs, and that it poses about threefold the risk of carbamazepine (CBZ). It is unclear if any other AEDs studied pose an increased risk of MCM occurrence; in the best available large study the absolute rates of MCMs with other several other AEDs were not different from untreated WWE. The absolute risks have been reported as CBZ 2.2%, lamotrigine (LTG) 3.2%, phenytoin (PHT) 3.7%, untreated WWE 3.5%, with VPA as the outlier at 6.2%. In utero VPA exposure is also associated with a risk of lower verbal intelligence quotient (IQ) in children, at approximately 10 points lower than controls. CBZ appears to pose no risk to cognitive outcome, and there is some evidence that PHT and phenobarbital (PB) may be associated with risk of reduced cognitive outcome. Polytherapy is associated with greater risk than monotherapy for both MCMs and cognitive outcome. Although more information is needed and hopefully will be obtained from ongoing prospective studies, it is clear that WWE taking VPA and planning pregnancy should have a discussion with their physician about considering changing to another AED before pregnancy, if possible. PMID:18929083

Harden, Cynthia L

2008-01-01

227

Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations.  

UK PubMed Central (United Kingdom)

Objective.? Infants with critical congenital heart disease (CHD) can have genetic and other extracardiac malformations, which add to the short- and long-term risk of morbidity and perhaps mortality. We sought to examine our center's practice of screening for extracardiac anomalies and to determine the yield of these tests among specific cardiac diagnostic categories. Design.? Retrospective review of infants admitted to the cardiac intensive care unit with a new diagnosis of CHD. Subjects were categorized into six groups: septal defects (SD), conotruncal defects (CTD), single-ventricle physiology (SV), left-sided obstructive lesions (LSO), right-sided obstructive lesions (RSO), and "other" (anomalous pulmonary venous return, Ebstein's anomaly). Screening modalities included genetic testing (karyotype and fluorescent in situ hybridization for 22q11.2 deletion), renal ultrasound (RUS), and head ultrasound (HUS). Results.? One hundred forty-one patients were identified. The incidence of cardiac anomalies was: CTD (36%), SD (18%), SV (18%), LSO (14%), RSO (3%), and "other" (8%). Overall 14% had an abnormal karyotype, 5% had a deletion for 22q11.2, 28% had an abnormal RUS and 22% had abnormal HUS. Patients in SD and SV had the highest incidence of abnormal karyotype (36% and 17%); 22q11.2 deletion was present only in CTD and LSO groups (9% and 7%, respectively); abnormal RUS and HUS were seen relatively uniformly in all categories. Premature infants had significantly higher incidence of renal 43% vs. 24%, and intracranial abnormalities 46% vs. 16%. Conclusion.? Infants with critical CHD and particularly premature infants have high incidence of genetic and other extracardiac anomalies. Universal screening for these abnormalities with ultrasonographic and genetic testing maybe warranted because early detection could impact short and long-term outcomes.

Baker K; Sanchez-de-Toledo J; Munoz R; Orr R; Kiray S; Shiderly D; Clemens M; Wearden P; Morell VO; Chrysostomou C

2012-03-01

228

Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations.  

Science.gov (United States)

Objective.? Infants with critical congenital heart disease (CHD) can have genetic and other extracardiac malformations, which add to the short- and long-term risk of morbidity and perhaps mortality. We sought to examine our center's practice of screening for extracardiac anomalies and to determine the yield of these tests among specific cardiac diagnostic categories. Design.? Retrospective review of infants admitted to the cardiac intensive care unit with a new diagnosis of CHD. Subjects were categorized into six groups: septal defects (SD), conotruncal defects (CTD), single-ventricle physiology (SV), left-sided obstructive lesions (LSO), right-sided obstructive lesions (RSO), and "other" (anomalous pulmonary venous return, Ebstein's anomaly). Screening modalities included genetic testing (karyotype and fluorescent in situ hybridization for 22q11.2 deletion), renal ultrasound (RUS), and head ultrasound (HUS). Results.? One hundred forty-one patients were identified. The incidence of cardiac anomalies was: CTD (36%), SD (18%), SV (18%), LSO (14%), RSO (3%), and "other" (8%). Overall 14% had an abnormal karyotype, 5% had a deletion for 22q11.2, 28% had an abnormal RUS and 22% had abnormal HUS. Patients in SD and SV had the highest incidence of abnormal karyotype (36% and 17%); 22q11.2 deletion was present only in CTD and LSO groups (9% and 7%, respectively); abnormal RUS and HUS were seen relatively uniformly in all categories. Premature infants had significantly higher incidence of renal 43% vs. 24%, and intracranial abnormalities 46% vs. 16%. Conclusion.? Infants with critical CHD and particularly premature infants have high incidence of genetic and other extracardiac anomalies. Universal screening for these abnormalities with ultrasonographic and genetic testing maybe warranted because early detection could impact short and long-term outcomes. PMID:22070653

Baker, Kimberly; Sanchez-de-Toledo, Joan; Munoz, Ricardo; Orr, Richard; Kiray, Shareen; Shiderly, Dana; Clemens, Michele; Wearden, Peter; Morell, Victor O; Chrysostomou, Constantinos

2011-11-09

229

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

UK PubMed Central (United Kingdom)

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

Blais L; Bérard A; Kettani FZ; Forget A

2013-08-01

230

The risk of congenital malformations associated with exposure to ?-blockers early in pregnancy: a meta-analysis.  

Science.gov (United States)

?-blockers are commonly used during the first trimester of pregnancy. Data about risks of congenital anomalies in offspring have not been summarized. We performed a meta-analysis to determine teratogenicity of ?-blockers in early pregnancy. A systematic literature search was performed using PubMed, EMBASE, Cochrane Clinical Trials, and hand search. Meta-analyses were performed using random-effects models based on odds ratios (ORs). Prespecified subgroup analyses were performed to explore heterogeneity. Randomized controlled trials or observational studies examining risks of congenital malformations associated with first trimester ?-blocker exposure compared with no exposure were included. Thirteen population-based case-control or cohort studies were identified. Based on meta-analyses, first-trimester oral ?-blocker use showed no increased odds of all or major congenital anomalies (OR=1.00; 95% confidence interval, 0.91-1.10; 5 studies). However, in analyses examining organ-specific malformations, increased odds of cardiovascular defects (OR=2.01; 95% confidence interval, 1.18-3.42; 4 studies), cleft lip/palate (OR=3.11; 95% confidence interval, 1.79-5.43; 2 studies), and neural tube defects (OR=3.56; 95% confidence interval, 1.19-10.67; 2 studies) were observed. The effects on severe hypospadias were nonsignificant (1 study). Causality is difficult to interpret given the small number of heterogeneous studies and possibility of biases. Given the frequency of this exposure in pregnancy, further research is needed. PMID:23753416

Yakoob, Mohammad Y; Bateman, Brian T; Ho, Eugenia; Hernandez-Diaz, Sonia; Franklin, Jessica M; Goodman, Julie E; Hoban, Rebecca A

2013-06-10

231

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  

Directory of Open Access Journals (Sweden)

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

JULIO NAZER H; LUCÍA CIFUENTES O

2011-01-01

232

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 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 gr (more) ams 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.

NAZER H, JULIO; CIFUENTES O, LUCÍA

2011-01-01

233

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

Directory of Open Access Journals (Sweden)

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

Peter Agergaard; Anders Hebert; Jesper Bjerre; et al

2011-01-01

234

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

DEFF Research Database (Denmark)

To investigate whether parents of children with congenital malformations more often developed cancer after birth of the child, a population-based case-control study in Denmark was undertaken. By linking the Cancer Registry with the Central Population Registry, we identified 8783 cancer patients having their first child born between 1977 and 1995 before the cancer was diagnosed. Parents of 41 206 firstborn children of a 10% random sample of newborns from the Birth Registry between 1980 and 1995 were identified as controls. We obtained malformation diagnoses of children of cases and controls by linking to the Hospital Discharge Registry. We estimated the association between malformation and cancer by using logistic regression, adjusting for maternal age at birth and sex of child. We found no increased risk of cancer in parents having children with malformations in general, but a higher cancer risk in parents of children born with cleft lip/palate, odds ratio (OR) for all cancer=1.8 (95% confidence interval 1.0-3.2), OR for lymphomas=4.2 (1.3-13.5) and OR for leukaemia=8.1 (2.0-33.7). This association was not restricted to cancer cases diagnosed shortly after birth of the child. Our results suggest a common genetic association between these diseases, but further studies are needed.

Zhu, Jin Liang; Basso, Olga

2002-01-01

235

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

Scientific Electronic Library Online (English)

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

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

2010-06-01

236

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

UK PubMed Central (United Kingdom)

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

Balegar V KK; Barr PA; McCauley JC; Thomas G

2013-01-01

237

Prenatally detected congenital perineal mass using 3D ultrasound which was diagnosed as lipoblastoma combined with anorectal malformation: case report.  

Science.gov (United States)

We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at a gestational age of 23 weeks the fetal perineal mass were found on the right side. Any other defects were not visible on ultrasonography during whole gestation. Amniocentesis was performed to evaluate the fetal karyotyping and acetylcholinesterase which were also normal. As the fetus grew up, the mass size was slowly increased more and more. At birth, a female neonate had a perineal mass on the right side as expected. During operation, the anal sphincteric displacement was found near the mass and reconstructed through posterior sagittal incision. This is the first reported case of prenatally diagnosed congenital perineal mass, after birth which was diagnosed as lipoblastoma and even combined with anorectal malformation. This case shows that it can be of clinical importance to be aware of this rare fetal perineal mass in prenatal diagnosis and counseling. PMID:20592907

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

2010-06-16

238

Prenatally detected congenital perineal mass using 3D ultrasound which was diagnosed as lipoblastoma combined with anorectal malformation: case report.  

UK PubMed Central (United Kingdom)

We report a case of prenatally diagnosed congenital perineal mass which was combined with anorectal malformation. The mass was successfully treated with posterior sagittal anorectoplasty postnatally. On ultrasound examination at a gestational age of 23 weeks the fetal perineal mass were found on the right side. Any other defects were not visible on ultrasonography during whole gestation. Amniocentesis was performed to evaluate the fetal karyotyping and acetylcholinesterase which were also normal. As the fetus grew up, the mass size was slowly increased more and more. At birth, a female neonate had a perineal mass on the right side as expected. During operation, the anal sphincteric displacement was found near the mass and reconstructed through posterior sagittal incision. This is the first reported case of prenatally diagnosed congenital perineal mass, after birth which was diagnosed as lipoblastoma and even combined with anorectal malformation. This case shows that it can be of clinical importance to be aware of this rare fetal perineal mass in prenatal diagnosis and counseling.

Ahn KH; Boo YJ; Seol HJ; Park HT; Hong SC; Oh MJ; Kim T; Kim HJ; Kim YT; Kim SH; Lee KW

2010-07-01

239

Prosthetic fitting in a patient with a transtibial amputation due to a congenital vascular malformation of the right leg.  

UK PubMed Central (United Kingdom)

Background:The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation.Case description and methods:Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a normal socket fitting process was not possible. Using a multidisciplinary approach, a prosthesis was designed to enable full weight bearing in a flexed knee position with ischial tuberosity support to prevent full weight bearing on the tibial part of the stump.Findings and outcomes:After training and adjustments to the design, a definitive prosthesis with a free motion mechanical knee joint could be used. During the training with this prosthesis, no skin problems were observed, and at the end of the rehabilitation, the patient had a high level of activities of daily living and sports.Conclusion:The above prosthetic solution with an adjusted socket design proved to be successful in this case.Clinical relevanceIn a patient with severe congenital vascular malformation deformity leading to a transtibial amputation, fitting of a good prosthesis without full weight bearing of the stump proved to be successful.

Simmelink EK; Rommers GM; Gardeniers JW; Zijlstra H

2013-08-01

240

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

Scientific Electronic Library Online (English)

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

Sousa, Lucília; Pereira, M. Graça

2010-01-01

 
 
 
 
241

[Incidence of congenital malformations among births of foreign workers (author's transl)  

UK PubMed Central (United Kingdom)

From 1967 to 1972 7.83% of the parturients delivered at the Department of Obstetrics and Gynecology II of the University of Vienna were foreign workers. From 1972 to 1978 the part of the foreign workers come to 21.31%. From 1967 to 1972 there was a highly significant prevalence of so-called "non-viable malformations" (p less than 0,001) among foreign workers and "severe external malformations" were significantly more common at the 5% level. In the period from 1972 to 1978 these differences were no longer as pronounced. Statistical significance was not reached for the so-called "non-viable malformations" in the period from 1972 to 1978. Only dysrhaphism continued to be significantly more common at the 1+ level. Among these malformations incomplete ventral fusion was significantly more frequent at the 5%.

Spernol R; Endler M; Schaller A

1981-01-01

242

Prognosis for congenital scoliosis due to a unilateral failure of vertebral segmentation.  

UK PubMed Central (United Kingdom)

BACKGROUND: Congenital scoliosis due to a unilateral failure of vertebral segmentation usually has a poor prognosis. However, not all curves progress to the same degree or develop the same spinal deformity. METHODS: The medical records and spine radiographs of 171 patients with a scoliosis due to unilateral unsegmented bar were reviewed retrospectively. The mean patient age at diagnosis was 9.3 years. Thirty-six patients had immediate surgery, 103 immature patients were followed untreated or before surgery for a mean duration of 3.6 years, twenty-eight patients were seen untreated at skeletal maturity, and four patients had no follow-up. RESULTS: The unsegmented bar occurred at all levels; the mean extent was three vertebrae (range, two to eight vertebrae). Before the age of ten years, patients had a mean rate of scoliosis progression without treatment for all regions of the spine of 2° to 3° per year. By the age of ten years, seventy-three patients who had been seen untreated or prior to treatment had a mean scoliosis of 50° (range, 18° to 100°). After the age of ten years, these patients had an increase in the mean rate of scoliosis progression, but this rate varied per year depending on the affected region of the spine: 7° for the thoracolumbar curve, 5° for the midthoracic curve, and 4° for the upper thoracic curve. Spine surgery was performed on seventy-four patients who had a mean age of 12.2 years and a mean scoliosis of 78° for thoracolumbar curves, 66° for midthoracic curves, and 54° for upper thoracic curves. Of the patients with midthoracic congenital scoliosis, 24% developed a lower structural compensatory curve, which became larger and more deforming than the congenital curve, 22% had congenital rib fusions, and 16% had occult intraspinal anomalies. CONCLUSIONS: Prognosis depends on growth imbalance at the site of the unsegmented bar as well as the location and extent of the bar, age at diagnosis, and spinal growth remaining. LEVEL OF EVIDENCE: Prognostic Level II. See Instructions for Authors for a complete description of levels of evidence.

McMaster MJ; McMaster ME

2013-06-01

243

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

DEFF Research Database (Denmark)

OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were examined by midtrimester ultrasound scan during 1997 and 1998. The infants were followed up to the age of at least 1 year. The main outcome measures were the detection rate (DR) of fetal abnormalities in relation to patient factors, staff factors, team and work environment factors. RESULTS: Significant malformations were detected in 100 fetuses or infants, corresponding to an incidence of 1.3%. The prenatal DR was 60%. High maternal body mass index (BMI) was associated with a lower DR, while the presence of twins, the gestational age at time of screening and the sonographer's level of experience were not. Fetuses with a prenatally undetected malformation were more often examined by more than one sonographer than fetuses without congenital malformations. Workload or monotony did not seem to affect the efficacy of screening. There was a trend towards a lower detection rate at midday and when most of the staff were at work. CONCLUSIONS: Some team and work environment factors that may affect the detection rate of fetal abnormalities were identified and have been changed: appointments for screening have been reorganized, regular breaks for all the staff introduced and second opinions are given by a specialist in fetomaternal medicine. The new system will be followed up to ensure that the reorganization has not created new organizational mistakes.

Tabor, Ann; Zdravkovic, Milica Branislava

2003-01-01

244

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

UK PubMed Central (United Kingdom)

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 A; Zdravkovic M; Perslev A; Møller LK; Pedersen BL

2003-12-01

245

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 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 pacientes com diagnóstico anatomopatológico de malformações congênitas pulmonares e que foram submetidos à ressecção pulmonar entre janeiro de 1997 e dezembro de (more) 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 patients anatomopathologically diagnosed with congenital lung malformations and who had been submitted to pulmonary resection between January of 1997 and December of 2006. Exclusion (more) 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.

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

2010-04-01

246

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

Directory of Open Access Journals (Sweden)

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; Gilberto Bueno Fischer; José Carlos Felicetti; José de Jesus Peixoto Camargo; Cristiano Feijó Andrade

2010-01-01

247

Prognosis for racing with conservative management of cervical vertebral malformation in thoroughbreds: 103 cases (2002-2010).  

UK PubMed Central (United Kingdom)

BACKGROUND: Cervical vertebral malformation (CVM) is seen in young, rapidly growing horses, and is commonly associated with a poor prognosis for racing. HYPOTHESIS/OBJECTIVE: To examine the records of a population of Thoroughbreds with a presumptive diagnosis of CVM and to determine which radiographic findings and neurologic exam findings have an effect on these horses achieving athletic function when managed conservatively. ANIMALS: One hundred and three thoroughbreds presumptively diagnosed with CVM and treated conservatively between 2002 and 2010. METHODS: Racing records were reviewed in this retrospective study to determine which horses raced after treatment. Horses were separated into groups based on whether or not they raced. Medical records were reviewed, and results of neurologic examination, radiographic and laboratory findings, treatments, and outcome were assessed and compared between groups. RESULTS: Sixteen horses were excluded because of insufficient information. Of the remaining horses, thirty-three were euthanized after diagnosis, while the remaining seventy were discharged for treatment. Twenty-one of 70 horses treated medically (30%) went on to race. Horses that went on to race had a significantly lower neurologic grade (P = .0002), with a median of 1.0 in the thoracic limbs and 2.0 in the pelvic limbs. Euthanized horses and nonstarters were more likely to have kyphosis (P = .041) or cranial stenosis (P = .041) on standing lateral cervical radiographs. CONCLUSIONS AND CLINICAL IMPORTANCE: Some horses can race after the diagnosis of CVM. Neurologic examination and radiographic findings can be helpful in predicting racing prognosis.

Hoffman CJ; Clark CK

2013-03-01

248

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

Directory of Open Access Journals (Sweden)

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

Zhang Yi; Fan Xuehua; Sun Dongxiao; Wang Yachun; Yu Ying; Xie Yan; Zhang Shengli; Zhang Yuan

2012-01-01

249

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

UK PubMed Central (United Kingdom)

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

Zhang Y; Fan X; Sun D; Wang Y; Yu Y; Xie Y; Zhang S; Zhang Y

2012-01-01

250

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

251

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

Directory of Open Access Journals (Sweden)

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

Rosa Andrea Pardo; Julio Nazer H; Lucía Cifuentes O

2003-01-01

252

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

Directory of Open Access Journals (Sweden)

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

Ivan Romero Rivera; Valdir Ambrósio Moisés; Angelo Amato V. de Paola; Antonio Carlos Carvalho

2002-01-01

253

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

Scientific Electronic Library Online (English)

Full Text Available Abstract in english 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 vel (more) ocity-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; Moisés, Valdir Ambrósio; Paola, Angelo Amato V. de; Carvalho, Antonio Carlos

2002-06-01

254

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.)

2012-01-01

255

Squamous metaplasia in the cyst epithelium of type 1 congenital pulmonary airway malformation after thoracoamniotic shunt placement.  

UK PubMed Central (United Kingdom)

Thoracoamniotic shunting is the treatment of choice for management of the fetus with type 1 congenital pulmonary airway malformation. Thoracoamniotic shunting has been performed to reduce life-threatening risks such as fetal hydrops. However, caution is needed because of possible complications. Here, we report that thoracoamniotic shunting can cause histologic changes in the cyst epithelia. In 5 of 8 patients treated prenatally with thoracoamniotic shunting, squamous metaplasia in the cyst epithelia was seen; whereas squamous metaplasia was not found in 6 patients who were not treated with this procedure. Our results reveal that long-term exposure to the intrauterine environment could possibly lead to the change in the nature of cyst epithelium and consequent squamous metaplasia.

Matsuoka K; Hayashi S; Urano F; Zhu LJ; Okita H; Sago H; Nakazawa A

2012-09-01

256

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

UK PubMed Central (United Kingdom)

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.

Sa YJ; Kim YD; Moon SW; Kim CK; Ki CS

2012-10-01

257

Congenital pulmonary arteriovenous malformation: a rare cause of cyanosis in childhood  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis. We present two patients with severe cyanosi...

Mottaghi, Hassan; Kahrom, Mahdi; Nezafati, Mohammad Hassan; Kahrom, Hadi

258

A clinical and experimental overview of sirenomelia: insight into the mechanisms of congenital limb malformations.  

UK PubMed Central (United Kingdom)

Sirenomelia, also known as sirenomelia sequence, is a severe malformation of the lower body characterized by fusion of the legs and a variable combination of visceral abnormalities. The causes of this malformation remain unknown, although the discovery that it can have a genetic basis in mice represents an important step towards the understanding of its pathogenesis. Sirenomelia occurs in mice lacking Cyp26a1, an enzyme that degrades retinoic acid (RA), and in mice that develop with reduced bone morphogenetic protein (Bmp) signaling in the caudal embryonic region. The phenotypes of these mutant mice suggest that sirenomelia in humans is associated with an excess of RA signaling and a deficit in Bmp signaling in the caudal body. Clinical studies of sirenomelia have given rise to two main pathogenic hypotheses. The first hypothesis, based on the aberrant abdominal and umbilical vascular pattern of affected individuals, postulates a primary vascular defect that leaves the caudal part of the embryo hypoperfused. The second hypothesis, based on the overall malformation of the caudal body, postulates a primary defect in the generation of the mesoderm. This review gathers experimental and clinical information on sirenomelia together with the necessary background to understand how deviations from normal development of the caudal part of the embryo might lead to this multisystemic malformation.

Garrido-Allepuz C; Haro E; González-Lamuño D; Martínez-Frías ML; Bertocchini F; Ros MA

2011-05-01

259

Role of ERK1/2 signaling in congenital valve malformations in Noonan syndrome  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Noonan syndrome (NS) is the most common nonchromosomal genetic disorder associated with cardiovascular malformations. The most prominent cardiac defects in NS are pulmonary valve stenosis and hypertrophic cardiomyopathy. Gain-of-function mutations in the protein tyrosine phosphatase Shp2 have been i...

Krenz, Maike; Gulick, James; Osinska, Hanna E.; Colbert, Melissa C.; Molkentin, Jeffery D.; Robbins, Jeffrey

260

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

Directory of Open Access Journals (Sweden)

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

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

1994-01-01

 
 
 
 
261

Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984).  

UK PubMed Central (United Kingdom)

Limb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975-1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal. Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects. Upper limbs (81%) were involved significantly more often than lower limbs (42%) and there were more right-sided defects (83% vs. 71%) due to an excess of right arm involvement especially with radial ray and split hand anomalies. Single limb involvement was relatively common with amelia (88%), UF (82%), RT (50%), and TT (50%) defects. With other LD, multimelic involvement was more characteristic. This was usually symmetric with intercalary and RL defects but asymmetric with CA anomalies and digital deficiencies (DD). From a causal perspective, 17% of cases had genetic disorders, 52% had recognized associations, anomalies, sequences, environmental causes or patterns of unknown origin, and 31% had unknown patterns of malformations. The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed unusual temporal distribution. As anticipated, patterns of malformations differed with the type of LD. Amelia and digital amputations were often seen with body wall defects, atypical anencephaly or encephalocele, and cleft lip reflecting amnion disruption. Rudimentary limb was seen with anencephaly, omphalocele, renal agenesis, aberrant genitalia, and imperforate anus, reflecting defects of blastogenesis including the cloacal exstrophy and caudal regression sequences and Schisis association. Radial/tibial defects were associated with different patterns depending on whether the limb defects were unilateral or bilateral. Unilateral defects occurred with anomalies suggesting VACTERL association or the facio-auriculo-vertebral anomaly, while bilateral defects occurred more often in genetic or potentially genetic disorders including VACTERL with hydrocephalus. Central axis defects showed three main patterns of association: one reflecting the ectrodactyly-ectodermal dysplasia-clefting syndrome; one with tongue anomalies representing a variant of oro-mandibular-limb (Hanhart) anomaly, and the last with hydronephrosis indicating a group of "acro-renal" syndromes. Strong associations with other anomalies were not seen in the groups with TT, UF, or intercalary defects.

Evans JA; Vitez M; Czeizel A

1994-01-01

262

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  

Directory of Open Access Journals (Sweden)

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; Julio Nazer H; Lucía Cifuentes O; Paola Mella A; Pedro de la Barra H; David Gutiérrez T

2000-01-01

263

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 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 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 (more) 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.

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

2000-02-01

264

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 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 s? (more) ?ndrome 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 review about this condition. Case study: 23 years old man with several episodes of pneumonia and obstructive bronchial syndrome during his childhood. The patient complained of pleu (more) ritic 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.

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

2009-01-01

265

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

Directory of Open Access Journals (Sweden)

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

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

2009-01-01

266

Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice  

Digital Repository Infrastructure Vision for European Research (DRIVER)

Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, ...

Catela, Catarina; Bilbao-Cortes, Daniel; Slonimsky, Esfir; Kratsios, Paschalis; Rosenthal, Nadia; te Welscher, Pascal

267

The long search for the causes of congenital malformations in mammals.  

UK PubMed Central (United Kingdom)

The history of teratology is reviewed. Methods available for causing malformations in mammals by subtle changes in the environment during pregnancy are discussed. A table is provided in which the commoner teratogens are listed. Methods are described by means of which the activity of some common teratogens may be opposed. The occurrence at Battle Creek, Michigan, USA, of a chemical agent dangerous to health, life and development of all mammals is described. This gives an indication that injury and death to all mammals, as in the Sevaso disaster, including teratogenesis may be expected to be a fairly frequent occurrence in the years to come.

Woollam DH

1978-01-01

268

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

UK PubMed Central (United Kingdom)

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.

Takc? S; Korkmaz A; Sim?ek-Kiper PO; Utine GE; Boduro?lu K; Yurdakök M

2012-07-01

269

Evaluation of the Carhart effect in congenital middle ear malformation with both an intact external ear canal and a mobile stapes footplate.  

Science.gov (United States)

The medical charts of 41 ears with congenital middle ear malformation with both an intact external ear canal and a mobile stapes footplate were reviewed retrospectively to study the Carhart effect. The operations were categorized as successful or unsuccessful according to the extent of decrease in the average air-bone gap. Statistically significant differences were observed between the 2 groups with respect to the changes in pure-tone average and the changes in the bone conduction (BC) threshold at 1 and 2 kHz. Linear regression analysis revealed weak correlations between the change in the BC threshold and the postoperative BC threshold at an overall level and at the 4 frequencies tested. Stapes ankylosis is a main cause of the Carhart effect. The present study showed that in congenital middle ear malformation, the Carhart effect was caused not only by stapes ankylosis but also by other types of disruption in the ossicular chain. PMID:21212712

Sakamoto, Takashi; Kakigi, Akinobu; Kashio, Akinori; Kanaya, Kaori; Suzuki, Mitsuya; Yamasoba, Tatsuya

2011-01-05

270

Evaluation of the Carhart effect in congenital middle ear malformation with both an intact external ear canal and a mobile stapes footplate.  

UK PubMed Central (United Kingdom)

The medical charts of 41 ears with congenital middle ear malformation with both an intact external ear canal and a mobile stapes footplate were reviewed retrospectively to study the Carhart effect. The operations were categorized as successful or unsuccessful according to the extent of decrease in the average air-bone gap. Statistically significant differences were observed between the 2 groups with respect to the changes in pure-tone average and the changes in the bone conduction (BC) threshold at 1 and 2 kHz. Linear regression analysis revealed weak correlations between the change in the BC threshold and the postoperative BC threshold at an overall level and at the 4 frequencies tested. Stapes ankylosis is a main cause of the Carhart effect. The present study showed that in congenital middle ear malformation, the Carhart effect was caused not only by stapes ankylosis but also by other types of disruption in the ossicular chain.

Sakamoto T; Kakigi A; Kashio A; Kanaya K; Suzuki M; Yamasoba T

2011-01-01

271

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

Directory of Open Access Journals (Sweden)

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

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

2003-01-01

272

Short-term X-ray results of posterior vertebral column resection in severe congenital kyphosis, scoliosis, and kyphoscoliosis.  

UK PubMed Central (United Kingdom)

STUDY DESIGN: Retrospective case series. OBJECTIVE: To analyze the efficacy and safety of posterior vertebral column resection performed on a consecutive series of patients with severe congenital spinal deformity. SUMMARY OF BACKGROUND DATA: The treatment of severe congenital spinal deformities is a demanding and difficult surgical challenge. Conventional procedures, such as posterior and anterior instrumentation or combined anteroposterior instrumentation provide limited correction in rigid neglected or maltreated (fused) deformities. METHODS: Forty-four patients with severe deformity and managed by posterior vertebral column resection between years 1997 and 2007 having more than 2 years of follow-up were included. Mean age was 8 (range, 2-28) years at the time of operation. The hospital charts were reviewed for demographic data and etiology of deformity. Measurements of curve magnitude and balance were made on 36-in. standing anteroposterior and lateral radiographs obtained before surgery and at most recent follow-up to assess deformity correction, spinal balance, complications related to the instrumentation, and any evidence of pseudarthrosis. RESULTS: Preoperative coronal plane major curve of 106° (range, 90°-132°) with flexibility of less than 30% was corrected to 41.4° (range, 20°-72°), showing a 61% scoliosis correction at the final follow-up. Coronal imbalance was improved by 79% at the most recent follow-up assessment. Preoperative thoracic kyphosis of 87° (range, 67°-103°) in patients with kyphosis was corrected to 36° (range, 25°-48°) at the most recent follow-up evaluation. Lumbar lordosis of 27° (range, 8°-35°) in patients with hypolordotic deformity was corrected to 45°. Complications included postoperative infection in 2 patients, dural laceration in 2 patients, and hemopneumothorax in 1 patient. CONCLUSION: Posterior vertebral column resection is an effective technique providing a successful correction of stiff complex congenital deformities. However, it is a technically demanding procedure, with possible risks for major complications.

Ozturk C; Alanay A; Ganiyusufoglu K; Karadereler S; Ulusoy L; Hamzaoglu A

2012-05-01

273

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

Science.gov (United States)

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

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

1985-10-01

274

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

UK PubMed Central (United Kingdom)

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

Panter KE; Keeler RF; Buck WB

1985-10-01

275

Maternal folic acid-deficient diet causes congenital malformations in the mouse eye.  

UK PubMed Central (United Kingdom)

BACKGROUND: The eye is a very complex structure derived from the neural tube, surface ectoderm, and migratory mesenchyme from a neural crest origin. Because structures that evolve from the neural tube may be affected by a folate/folic acid (FA) deficiency, the aim of this work was to investigate whether a maternal folic acid-deficient diet may cause developmental alterations in the mouse eye. METHODS: Female C57BL/6J mice (8 weeks old) were assigned into two different folic acid groups for periods ranging between 2 and 16 weeks. Animals were killed at gestation day 17. Hepatic folate was analyzed, and the eyes from 287 fetuses were macroscopically studied, sectioned and immunolabeled with anti-transforming growth factor (TGF)-?2 and anti-TGF-?RII. RESULTS: Mice exposed to a FA-deficient diet exhibited numerous eye macroscopic anomalies, such as anophthalmia and microphthalmia. Microscopically, the eye was the most affected organ (43.7% of the fetuses). The highest incidence of malformations occurred from the 8th week onward. A statistically significant linear association between the number of maternal weeks on the FA-deficient diet and embryonic microscopic eye malformations was observed. The optic cup derivatives and structures forming the eye anterior segment showed severe abnormalities. In addition, TGF-?2 and TGF-?RII expression in the eye was also altered. CONCLUSION: This study suggests that an adequate folic acid/folate status plays a key role in the formation of ocular tissues and structures, whereas a vitamin deficiency is negatively associated with a normal eye development even after a short-term exposure. Birth Defects Research (Part A) 97:587-596, 2013. © 2013 Wiley Periodicals, Inc.

Maestro-de-Las-Casas C; Pérez-Miguelsanz J; López-Gordillo Y; Maldonado E; Partearroyo T; Varela-Moreiras G; Martínez-Álvarez C

2013-09-01

276

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

Science.gov (United States)

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

277

Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report.  

UK PubMed Central (United Kingdom)

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of the congenital heart disease, urogenital malformation, skeletal anomalies and neural tube defects. We present a patient with spondylocostal dysostosis, who also had type I split cord malformation, tethered cord, scoliosis and double nipple on the right. Although the association of spondylocostal dysostosis and type I split cord malformation is very rare, double nipples on one side is no previously reported.

Yilmaz MB; Kaymak A; Kurt G; Percin FE; Baykaner K

2013-01-01

278

Spondylocostal dysostosis associated with type I split cord malformation and double nipple on one side: a case report.  

Science.gov (United States)

Jarcho Levin syndrome is a rare genetic disorder characterized by multipl vertebral and costal anomalies at birth. Jarcho Levin syndrome includes two phenotypic groups: spondylothoracic dysostosis and spondylocostal dysostosis. The prognosis of spondylothoracic dysostosis has worse than spondylocostal dysostosis, because of respiratory complications. Associated malformations include those of the congenital heart disease, urogenital malformation, skeletal anomalies and neural tube defects. We present a patient with spondylocostal dysostosis, who also had type I split cord malformation, tethered cord, scoliosis and double nipple on the right. Although the association of spondylocostal dysostosis and type I split cord malformation is very rare, double nipples on one side is no previously reported. PMID:23546915

Yilmaz, Muhammet Bahad?r; Kaymak, Aysegul; Kurt, Gokhan; Percin, Ferda Emriye; Baykaner, Kemali

2013-01-01

279

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

Directory of Open Access Journals (Sweden)

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

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

2012-01-01

280

A case of non-immune hydrops fetalis with congenital cystic adenomatoid malformation of the left lung in a twin.  

Science.gov (United States)

Hydrops fetalis is a rare condition that occurs in one out of every 1,400-4,000 pregnancies. There are two types, immune and non-immune. It can be caused by a maternal-fetal incompatibility due to the Rh factor or, more rarely, the Kell factor or due to other antigens to red corpuscles. Non-immune types of hydrops have a complex multiform pathogenesis and in 50% of the cases they are of idiopathic nature. The causes that could determine non-immune hydrops are manifold and in 50% of the cases they are of an idiopathic nature. Independently of the clinical condition, the presented case could be classified in those forms of pathogenesis in which there is the presence of a congenital cystic adenomatoid malformation (CAM), not encountered in the fetal ultrasound performed at the sixteenth week of pregnancy. The particularity of our case is due to the association of the fetal hydrops of the CAM type in only one of the two twins. The presented case is classified in those forms of hydrops that are expressed with a clinical trend towards a worse prognosis, characterized by the intrauterine death of the fetus or the birth of a hydropic fetus that does not survive because of respiratory insufficiency and cardiocirculatory collapse. PMID:11085057

Arena, S; Liberatore, A; Carrera, G; Riboni, G

 
 
 
 
281

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

Directory of Open Access Journals (Sweden)

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.

Gul Ahmet; Aslan Halil; Cebeci Altan; Ceylan Yavuz; Tekirdag Ali

2005-01-01

282

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

Directory of Open Access Journals (Sweden)

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

Erica Taucher S; Gloria Icaza N

2001-01-01

283

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

Scientific Electronic Library Online (English)

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

Pérez Ramírez, Miguel; Mulet Matos, Eusebio; Hartmann Guilarte, Armando

1997-06-01

284

[Malformation uropathies and multiple malformation syndromes  

UK PubMed Central (United Kingdom)

The authors, from their experience emphasize the associated malformations' frequency in major congenital urinary tract malformations (26,9%). It is essential to recognize in these multiple defects some certified syndromes - inherited or not. The most associations are still unknown, nevertheless the genetic counselling require an accurate diagnosis.

Briard ML; Le Merrer M; Kaplan J; Bois E; Frézal J

1984-06-01

285

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)  

Directory of Open Access Journals (Sweden)

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; Lucía Cifuentes O; Mariela Rodríguez C; Mildred Rojas N

2001-01-01

286

Risk of major congenital malformations in the offsprings of women with epilepsy is not related to family history.  

UK PubMed Central (United Kingdom)

UNLABELLED: We aimed to ascertain whether family history of major congenital malformations (MCMs) was increased in women with epilepsy (WWE) compared to controls (spouses) and whether family history of MCM was associated with occurrence of MCM in the offspring. PATIENTS AND METHODS: Women enrolled in the Kerala Registry of Epilepsy and Pregnancy were probands of this study. The control group comprised of unaffected spouses and their families. We interviewed the probands and spouses to construct detailed pedigree charts with information on MCM. All live born infants of WWE underwent clinical examination, echocardiography and ultrasonography. RESULTS: Data were collected for 11,777 family members of probands (n=573) and 10,832 family members of controls (n=550). Family history of MCM was positive for 84 probands (0.71%) and 64 controls (0.59%). Corresponding figures for first degree relatives were 32 out of 2717 for probands (1.18%) and 27 out of 2992 for controls (0.90%). Among the second degree relatives 52 out of 9060 for probands (0.71%) and 64 out of 10,832 for the controls (0.50%) had history of MCM. These differences were not statistically significant (p value=0.29, 0.37 and 0.42, respectively). There was no significant difference in the frequency of MCM between probands with generalized epilepsy and localization related epilepsy. Out of the 426 live born infants of the probands, 44 had MCM; two with family history and 42 without family history (OR 0.74; 95% CI 0.19-3.26). CONCLUSIONS: WWE of Asian Indian origin have no familial tendency for MCM and the offsprings with family history have no increased risk of MCM.

Thomas SV; Nair RR; Jose M; Sarma PS

2009-01-01

287

Surgical repair of congenital mitral valve malformations in infancy and childhood: a single-center 36-year experience.  

UK PubMed Central (United Kingdom)

OBJECTIVE: We sought to evaluate the results of surgical repair and determine predictors for the late outcome of congenital mitral valve dysplasia. METHODS: Preoperative, operative and postoperative data were obtained from an institutional database; follow-up data came from regular clinical evaluation at our institution or elsewhere. Patients were divided into isolated and complex cases according to the complexity of associated lesions. RESULTS: Between 1972 and 2008, 93 patients (43 male and 50 female patients) underwent mitral repair (median, 4.5 years; range, 0.16-19.8 years). Predominant mitral regurgitation was present in 52%. Associated cardiac anomalies were present in 72%. Sixty-one patients were in the complex group. All patients underwent successful mitral repair. Surgical repair was tailored to the patient's valve anatomy. Early death was 7.5%. The postoperative course was uneventful in 86% of patients. At a mean follow-up of 10.3 years (median, 8.4 years; completeness, 94%), late mortality is 8% (7 patients). Twelve patients underwent mitral reintervention (11 replacements and 1 repair). Among the 80 survivors, 82.5% were in New York Heart Association class I or II, and 61.2% had some degree of persistent mitral regurgitation or stenosis, despite stable hemodynamics. Stenosis is a statistically significant risk factor for surgical intervention at less than 1 year of age and is related to higher overall mortality and incidence of late cardiac failure and mitral dysfunction; parachute mitral valve is related to higher mortality and morbidity. CONCLUSIONS: Mitral valve repair shows acceptable early mortality and reoperation rates. Mitral malformations in the complex group are related to a significantly higher risk of reoperation on the mitral valve. Parachute mitral valve is associated with a higher rate of early mortality.

Stellin G; Padalino MA; Vida VL; Boccuzzo G; Orrù E; Biffanti R; Milanesi O; Mazzucco A

2010-12-01

288

Determining the predictive value of Read codes to identify congenital cardiac malformations in the UK Clinical Practice Research Datalink.  

UK PubMed Central (United Kingdom)

PURPOSES: The purposes of this study were to determine (i) the positive predictive value (PPV) of multiple Read codes used to identify congenital cardiac malformation (CCM) cases in the UK Clinical Practice Research Datalink (CPRD); (ii) the accuracy of the diagnosis date; and (iii) the source of information that the general practitioners (GPs) use for validating the diagnosis suggested by the code. METHODS: Eight hundred eighty-eight records with Read diagnostic and procedures codes for CCM, between January 1996 and November 2010, were identified from CPRD. Questionnaires were sent to GPs to verify the diagnoses and date of the code-identified events. RESULTS: A total of 719 questionnaires were returned (81% response rate). The PPV of the CCM codes was 93% (670/719). Thirty-one percent of cases had a different event date than the one recorded in the electronic medical record (EMR); 10% of these differing dates were within 30?days of the code-identified CCM date. GPs used a variety of data sources to confirm CCM diagnoses. Although the EMR was the most frequently used data source (70%), 66% reported using consultation letters, 9% reported using clinical notes or paper charts, and 35% of GPs reported using the hospital record to confirm the CCM diagnosis. CONCLUSIONS: Clinical Practice Research Datalink Read codes for CCMs have 93% PPV and most likely point to true cases. However, the accuracy of diagnosis dates and the age at diagnosis may not be as reliable. The findings of this study indicate that GPs use information beyond what is available for researchers in the EMR to confirm clinical diagnoses when responding to validation questionnaires. Published 2013. This article is a U.S. Government work and is in the public domain in the USA.

Hammad TA; Margulis AV; Ding Y; Strazzeri MM; Epperly H

2013-09-01

289

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

Science.gov (United States)

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

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

2013-07-25

290

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

UK PubMed Central (United Kingdom)

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

Zhu X; Zhang Y; Wang J; Yang JF; Yang YF; Tan ZP

2013-10-01

291

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.  

UK PubMed Central (United Kingdom)

Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%.

Coulibaly B; Sigaudy S; Girard N; Popovici C; Missirian C; Heckenroth H; Tasei AM; Fernandez C

2010-09-01

292

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.  

Science.gov (United States)

Coffine-Siris syndrome or "fifth digit" syndrome is a multiple congenital anomaly-mental retardation syndrome with severe developmental delay, coarse facial features, hirsutism and absent fifth fingernails or toenails or fifth distal phalanges. The etiology of this syndrome remains uncertain. Here we report a stillborn male baby born from consanguineous parents who might represent a very severe form of Coffine-Siris syndrome with cardiac defect and multiple brain malformations including corpus callosum agenesis and Dandy Walker malformation. To the best of our knowledge, it is the first case leading to intrauterine death. Karyotype and array comparative genomic hybridization were normal; these results give additional support to mendelian inheritance for this syndrome. In our family, the most likely mode of inheritance is autosomal recessive and the recurrence is probably as high as 25%. PMID:20624500

Coulibaly, Béma; Sigaudy, Sabine; Girard, Nadine; Popovici, Cornel; Missirian, Chantal; Heckenroth, Hélène; Tasei, Anne-Marie; Fernandez, Carla

2010-07-30

293

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

Scientific Electronic Library Online (English)

Full Text Available 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 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 (more) 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, 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. Prev (more) alence 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.

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

2006-11-01

294

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

Directory of Open Access Journals (Sweden)

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

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

2006-01-01

295

[Anesthetic management with remifentanil during thoracic surgery in a pediatric patient--case report of a patient with congenital cyst adenoid malformation].  

UK PubMed Central (United Kingdom)

We gave general anesthesia for the lower right lobe resection in an infant with congenital cystic adenomatoid malformation (CCAM). Anesthesia was performed with sevoflurane inhalation, intravenous infusion of remifentanil and intermittent injection of fentanyl. Intraoperative anesthetic course was uneventful except for failure of one lung ventilation. After all surgical procedures, intercostal nerve block under direct vision by surgeon and intravenous infusion of fentanyl were performed for postoperative analgesia. Emergence from anesthesia was prompt, and the tracheal tube could be removed without any troubles. Remifentanil is an effective and safe opioid to use for thoracic surgery even in infants.

Nishi H; Tokeshi S; Iha H; Nakahara I; Kakinohana M; Sugahara K

2011-10-01

296

Severe desaturation while attempting one-lung ventilation for congenital cystic adenomatoid malformation with respiratory distress syndrome in neonate -A case report-.  

Science.gov (United States)

There are many methods for achieving one-lung ventilation (OLV) during thoracic surgery in neonates and the accuracy of OLV may affect postoperative outcome. The authors have performed OLV using a 5 Fr Arndt endobronchial blocker (AEB, Cook Inc., Bloomington, IN, USA) on a neonate diagnosed with congenital cystic adenomatoid malformation and respiratory distress syndrome (RDS) associated with marked mediastinal shift. In spite of sufficient preoxygenation, sudden and severe fall in oxygen saturation had occurred. Since neonates with RDS may develop sudden and severe desaturation, rapid intubation with anticipation of potential difficulty is necessary as well as sufficient preoxygenation. PMID:23904945

Seok, Ji-Hye; Kim, Eun-Ju; Ban, Jong-Seouk; Lee, Sang-Gon; Lee, Ji-Hyang; Seo, Da-Mi; Shim, Kwang-Seok

2013-07-19

297

Severe desaturation while attempting one-lung ventilation for congenital cystic adenomatoid malformation with respiratory distress syndrome in neonate -A case report-.  

UK PubMed Central (United Kingdom)

There are many methods for achieving one-lung ventilation (OLV) during thoracic surgery in neonates and the accuracy of OLV may affect postoperative outcome. The authors have performed OLV using a 5 Fr Arndt endobronchial blocker (AEB, Cook Inc., Bloomington, IN, USA) on a neonate diagnosed with congenital cystic adenomatoid malformation and respiratory distress syndrome (RDS) associated with marked mediastinal shift. In spite of sufficient preoxygenation, sudden and severe fall in oxygen saturation had occurred. Since neonates with RDS may develop sudden and severe desaturation, rapid intubation with anticipation of potential difficulty is necessary as well as sufficient preoxygenation.

Seok JH; Kim EJ; Ban JS; Lee SG; Lee JH; Seo DM; Shim KS

2013-07-01

298

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  

Directory of Open Access Journals (Sweden)

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; María Eugenia Hubner G; Pablo Valenzuela F; Lucía Cifuentes O

2000-01-01

299

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

Scientific Electronic Library Online (English)

Full Text Available 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 diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas consider (more) ações 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 disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical (more) malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

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

1972-03-01

300

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

Scientific Electronic Library Online (English)

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

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

2009-09-01

 
 
 
 
301

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

Directory of Open Access Journals (Sweden)

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

Manuel Piloto Morejón; María I. Sanabria Chocontá; Reinaldo Menéndez García

2001-01-01

302

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

Directory of Open Access Journals (Sweden)

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

Obu Herbert A; Chinawa Josephat M; Uleanya Nwachinemere D; Adimora Gilbert N; Obi Ikechukwu E

2012-01-01

303

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

Directory of Open Access Journals (Sweden)

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

Bentov Yaakov; Kordysh Ella; Hershkovitz Reli; Belmaker Ilana; Polyakov Marina; Bilenko Natasha; Sarov Batia

2006-01-01

304

Malformaciones congénitas en la crianza de cerdos del sector no especializado en el oriente de Cuba/ Congenital malformations in non specialized pig breeding sector in the eastern Cuba  

Scientific Electronic Library Online (English)

Full Text Available Abstract in spanish Para cuantificar la incidencia de malformaciones congénitas en cerdos del sector no especializado, en el oriente de Cuba, se observaron 325 camadas procedentes de diferentes genotipos de las razas más utilizadas en la zona. Se detectaron las malformaciones por observación, se cuantificaron y se determinó su significación con respecto al total de crías. La hernia inguinoescrotal resultó ser la más frecuente. Se concluye que el número de partos que presentan malfor (more) maciones es alto (9,07% del total), y por tanto, sería necesario mayor rigor en la selección de reproductores en el sector no especializado. Abstract in english Whit the objective of quantify the incidence of pig congenital malformations in the non specialized sector in eastern of Cuba, an amount of 325 litters, from different genotypes of the most frequently used breeds in this zone was analyzed. The malformations were detected by observation and quantified, its significance was determined with respect to the total amount of piglets. Inguinoescrotal hernia resulted to be the most frequent of all. It was concluded that the number (more) of births presenting malformations is very high, 9.07% of the total of cases. An alert is emitted for a necessity of being rigorous in selecting breeders from non specialized productive sector.

Reyes Ávila, I.R.; Pérez Pineda, E.; Pérez Freeman, F.; Reyes Ávila, L.E.

2010-12-01

305

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

Scientific Electronic Library Online (English)

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

Pereira, Priscila Krauss; Lima, Lúcia Abelha; Magnanini, Mônica Maria Ferreira; Legay, Leticia Fortes; Lovisi, Giovanni Marcos

2011-12-01

306

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

Directory of Open Access Journals (Sweden)

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

Priscila Krauss Pereira; Lúcia Abelha Lima; Mônica Maria Ferreira Magnanini; Leticia Fortes Legay; Giovanni Marcos Lovisi

2011-01-01

307

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

Directory of Open Access Journals (Sweden)

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

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

2006-01-01

308

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

Scientific Electronic Library Online (English)

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

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

2006-08-01

309

Incidência de malformações congênitas em crianças concebidas através de injeção intracitoplasmática de espermatozóides/ Incidence of congenital malformations in children conceived through intracytoplasmic sperm injection  

Scientific Electronic Library Online (English)

Full Text Available Abstract in portuguese OBJETIVO: avaliar a incidência e tipos de malformações congênitas maiores (MCM) em crianças concebidas por injeção intracitoplasmática de espermatozóides (ICSI) e nascidas vivas. MÉTODOS: um total de 680 crianças nasceram vivas de 511 casais submetidos à ICSI no período de janeiro de 1999 a dezembro de 2002. A coleta de dados das crianças foi procedida por meio de questionário padronizado e exame clínico. Dos 511 casais, 366 foram contatados para amostrage (more) m de 371 gestações. Das 680 crianças nascidas vivas, 520 foram avaliadas, 250 delas (48,1%) por meio de questionário e 270 (51,9%) por questionário e exame físico. Duzentas e cinqüenta crianças foram de gestação única e 270 de gestação múltipla. Na análise das malformações congênitas foi empregada a 10ª Revisão da Classificação Internacional de Doenças. Nesse estudo foram analisadas apenas as MCM. A incidência de MCM foi comparada à da população geral obtida pelo Estudo Colaborativo Latino-Americano de Malformações Congênitas. A análise estatística foi feita usando o teste do chi2 (nível de significância p0,05), que teve 2,6% de incidência de MCM. As malformações mais freqüentes foram as de origem cardíaca (quatro isoladas e duas associadas), correspondendo a 40% do total. Os outros tipos de MCM foram: renal (três), defeito de fechamento do tubo neural (dois), defeito do crânio (um), lábio leporino (um), genital (um), síndrome de Down (associada à cardiopatia) (dois) e músculo-esquelética (um). Seis MCM ocorreram em crianças provenientes de gestações únicas e nove de gestações múltiplas. CONCLUSÃO: as crianças concebidas por ICSI e nascidas vivas apresentaram incidência de malformações congênitas maiores (2,9%) próximo ao esperado para a população geral (2,6%). Entretanto, para estabelecer com precisão os riscos de MCM é necessária continuidade na avaliação das crianças concebidas por ICSI. Abstract in english PURPOSE: to evaluate the incidence and types of major congenital malformations (MCM) in liveborn children conceived by intracytoplasmic sperm injection (ICSI). METHODS: a total of 680 liveborn children resulted from 511 couples submitted to ICSI from January, 1999 to December, 2002. Data collection of the children was performed through standardized questionnaire and clinical examination. Of the 511 couples, 366 had been contacted for a sampling of 371 gestations. Of the 6 (more) 80 liveborn, 520 had been evaluated, 250 of them (48.1%) through questionnaire and 270 (51.9%) through questionnaire and physical examination. Two hundred and fifty children were from singleton pregnancies and 270 from multiple pregnancies. Malformations were classified according to the 10th revision of the International Statistical Classification of Diseases and Related Health. Only MCM were analyzed in this study. The incidence of MCM was compared with that of the general population obtained by the Latin American Collaborative Study of Congenital Malformations. The statistical analysis was performed by the c² test (level of significance p0.05), which showed 2.6% incidence of MCM. The most frequent malformations were of cardiac origin (four isolated and two associated), corresponding to 40% of the total. The other types of MCM were: renal (three), neural tube (two), skull (one), cleft lip (one), genital (one), Down syndrome (associated with cardiac malformations) (two), and musculoskeletal (one). Six MCM occurred in children from singleton pregnancies and nine in children from multiple pregnancies. CONCLUSION: the liveborn children conceived by ICSI presented incidence of major congenital malformations (2.9%) near to the expected for the general population (2.6%). However, to establish the risks of MCM with precision it is necessary to continue the evaluation of the children conceived by ICSI.

Araújo Filho, Edilberto de; Carillo, Sonia Ventura; Silva, Patricia Gomes; Martinhago, Ciro Dresch; Baruffi, Ricardo Luiz Razera; Oliveira, João Batista Alcantara; Franco Jr, José Gonçalves

2006-02-01

310

Associated malformations in patients with limb reduction deficiencies.  

UK PubMed Central (United Kingdom)

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.

Stoll C; Alembik Y; Dott B; Roth MP

2010-09-01

311

Three-dimensional display of the ventricles and cisterns from routine, non-contrast-enhanced CT scans: Hydrocephalus and congenital malformations  

International Nuclear Information System (INIS)

Standard image data from routine head CT scans can now be reprocessed in minutes to display cerebrospinal fluid free from surrounding brain and bone without need for any contrast agent(s). The three-dimensional, volumetric images generated can then be manipulated in seconds for visualization of the ventricles from any angle, or to yield cut-plain sections for visualization of the midline or other areas of interest. Based on a analysis of 50 cases, three-dimensional display of the size, position, and configuration of the ventricles materially aids the CT-based diagnosis of hydrocephalus, shunt malfunctions, and congenital malformations such as Dandy-Walker cyst, holoprosencephaly, and callosal agenesis with cyst.

1987-12-04

312

Fetal case of congenital cystic adenomatoid malformation of the lung: fetal therapy and a review of the published reports in Japan.  

Science.gov (United States)

We herein report a case of type I congenital cystic adenomatoid malformation of the lung (CCAML) with non-immune hydrops fetalis (NIHF), a mediastinal shift and polyhydramnios diagnosed at 24 weeks' gestation by ultrasonography. The fetus was treated with a cyst-amniotic shunt at 29 weeks' gestation. Following a postnatal whole resection of the right lung, postpneumonectomy syndrome appeared and, as a result, the infant died 13 months after delivery due to respiratory failure. Only 19 cases demonstrating CCAML associated with NIHF have been reported previously in Japan. Four cases showed a spontaneous resolution of NIHF, while 5 cases with type I CCAML, which all underwent fetal intervention, demonstrated an excellent outcome. PMID:16131368

Asabe, Koushi; Oka, Yoichiro; Shirakusa, Takayuki

2005-09-01

313

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

Scientific Electronic Library Online (English)

Full Text Available 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 pediátricos con insuficiencia respiratoria y colapso circulatorio refractario a la expansión de volumen y los inotrópicos. La radiografía de tórax mostró una imagen radiol (more) úcida, 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 refractory 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 lob (more) e 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.

Díaz Pumará, Estanislao; Mortarini, M. Alejandra

2013-04-01

314

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

Scientific Electronic Library Online (English)

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

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

2007-03-01

315

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

Directory of Open Access Journals (Sweden)

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

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

2007-01-01

316

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

Directory of Open Access Journals (Sweden)

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

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

2007-01-01

317

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

Scientific Electronic Library Online (English)

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

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

2013-06-01

318

Cerebral arteriovenous malformation in Noonan's syndrome.  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 ce...

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

319

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

Directory of Open Access Journals (Sweden)

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

Meydan Hasan; Yildiz Mehmet A; Agerholm Jørgen S

2010-01-01

320

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

Scientific Electronic Library Online (English)

Full Text Available Abstract in spanish Introducción. El Instituto de Genética Humana, de la Pontificia Universidad Javeriana, desarrolla un programa de vigilancia de malformaciones congénitas con metodologías modificadas del Estudio Colaborativo Latinoamericano de Malformaciones Congénitas. Objetivo. Describir la frecuencia de las principales malformaciones congénitas en el país. Materiales y métodos. Entre abril de 2001 y enero de 2008, se obtuvo información sobre los pacientes con malformaciones con (more) génitas y se analizaron la edad materna, la edad de gestación, el sexo y el peso del neonato, y la malformación congénita. Se clasificaron los casos según una escala de pronóstico para evaluar el impacto de la intervención del equipo de salud en la evolución de estos pacientes. Resultados. De 52.744 nacimientos en tres ciudades, 3,12% presentó alguna malformación congénita. Las anomalías de la oreja fueron las más frecuentes. El pie equino varo, la polidactilia y el labio y paladar hendidos, afectaron más a los pacientes de sexo masculino. El peso y la edad de gestación fueron menores en el grupo de los casos que en el de los controles. La escala de pronóstico mostró un alto riesgo de mortalidad o discapacidad en 54% de los pacientes y reveló que la intervención del equipo de salud cambia el pronóstico en más de 80% de los casos. Conclusión. Las frecuencias encontradas son similares a las del resto del mundo. La intervención del equipo de salud debe influir en el pronóstico de estas patologías. Un manejo temprano, adecuado e interdisciplinario es vital para disminuir la discapacidad y mejorar la calidad de vida de estos pacientes. Abstract in english Introduction. The Instituto de Genética Humana of the Pontificia Universidad Javeriana conducted an epidemiological surveillance of congenital malformations as defined by criteria provided by the Latin American Collaborative Study of Congenital Malformations. Objective. The frequency of the main 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 2 (more) 008 in three cities of Colombia (Bogotá, Ubaté and Manizales). Data included the age of mother, gestational age, gender and weight of the newborn and the congenital malformation. Cases were classified according to a prognostic scale to assess the impact of health team interventions in the recovery process. Results. Congenital defects were noted in 3.1% of the newborns. The most frequent congenital defects were those of the ears. Clubfoot, polydactyly and cleft lip or palate were more common amongst males. The weight and gestational age were lower in the congenitally affected in comparison with the control group. The prognostic scale of congenital malformations indicated that most of these patients are at high risk of death or disability and that the intervention of the health team changed the patient´s prognosis in approximately 80% of the cases. Conclusion. Frequencies of congenital malformations in Colombia were similar to those reported in other countries. The interventions of the health team in treating patients with congenital malformations directly affected patient prognosis. Therefore, early diagnosis and adequate interdisciplinary treatment were recommended by these data in order to reduce disability and improve the quality of life of these patients.

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

2010-01-01

 
 
 
 
321

Congenital heat disease  

Energy Technology Data Exchange (ETDEWEB)

The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations.

Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

1990-01-01

322

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

Directory of Open Access Journals (Sweden)

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

Rojas Lleonart, Isaías; Silveira Prado, Enrique A; Sotero Delgado. Margarita, M

2011-01-01

323

Safety of surgical treatment for patients with scoliosis and surgically corrected congenital cardiac malformations: a comparison with patients with scoliosis and normal hearts.  

UK PubMed Central (United Kingdom)

Object The safety of spinal fusion has been poorly studied in children with surgically corrected congenital cardiac malformations (CCMs). The objective of this study was to evaluate the safety of spinal fusion in patients with CCMs following cardiac surgery. Methods A retrospective study was conducted on 32 patients with scoliosis who received surgical treatment for their CCMs (CCM group). Sixty-four age- and sex-matched patients with scoliosis and normal hearts who received spinal fusion served as the control group. These 2 groups were compared for demographic distribution, blood loss, transfusion requirements, and incidence of postoperative complications. Results The ages, curve pattern distributions, and number of levels fused were similar between the 2 groups before spinal fusion. Overall, a total of 7 patients in the CCM group (21.9%) and 5 (7.8%) in the control group had documented postoperative complications. The perioperative allogenic blood transfusion rate and mean red blood cell transfusion requirement in the CCM group were significantly higher than those found in patients in the control group (68.7% vs 28.1%, respectively, p = 0.000; and 2.68 ± 2.76 units/patient vs 0.76 ± 1.07 units/patient, respectively, p = 0.011). In the CCM group, a preoperative major curve magnitude ? 80° was the most accurate indicator of an increased risk for a major complication (p = 0.019), whereas no statistically significant correlation was noted between postoperative complications and age, type of congenital heart disease, operative duration, and estimated blood loss during the operation and transfusion. Conclusions Spinal fusion subsequent to prior cardiac surgery is relatively safe and effective in correcting the spinal deformity for patients with scoliosis and surgically corrected CCMs. A preoperative major curve magnitude ? 80° may be a risk factor in predicting postoperative complications in scoliotic patients with surgically corrected CCMs.

Liang J; Ding R; Chua S; Li Z; Shen J

2013-09-01

324

Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.  

UK PubMed Central (United Kingdom)

Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. We describe an affected girl who had recurrent episodes of hepatic failure for which no obvious cause was found. Post-mortem examination revealed abnormal pancreatic histology and congenital abnormalities of the central nervous and cardio-respiratory systems which have not been previously described in this condition. She also demonstrated a deletion at 15q 11-12 in 65% of her cells.

Stewart FJ; Carson DJ; Thomas PS; Humphreys M; Thornton C; Nevin NC

1996-03-01

325

Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12.  

Science.gov (United States)

Wolcott-Rallison syndrome is a rare autosomal recessive condition first described in 1972. It is characterised by diabetes mellitus which arises in early infancy and multiple epiphyseal dysplasia. We describe an affected girl who had recurrent episodes of hepatic failure for which no obvious cause was found. Post-mortem examination revealed abnormal pancreatic histology and congenital abnormalities of the central nervous and cardio-respiratory systems which have not been previously described in this condition. She also demonstrated a deletion at 15q 11-12 in 65% of her cells. PMID:8737981

Stewart, F J; Carson, D J; Thomas, P S; Humphreys, M; Thornton, C; Nevin, N C

1996-03-01

326

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

Science.gov (United States)

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

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

2003-03-17

327

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

Science.gov (United States)

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

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

1990-01-01

328

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

UK PubMed Central (United Kingdom)

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

Panter KE; Keeler RF; Bunch TD; Callan RJ

1990-01-01

329

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

Directory of Open Access Journals (Sweden)

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

Jorge Szot M

2004-01-01

330

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  

Scientific Electronic Library Online (English)

Full Text Available Abstract in spanish Los 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 (more) 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 Abstract in english 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 case (more) s. 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): 237-240

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

2011-12-01

331

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  

Directory of Open Access Journals (Sweden)

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; Rafael S. Maior; Carlos Tomaz

2011-01-01

332

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

Scientific Electronic Library Online (English)

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

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

2009-09-01

333

Congenital scoliosis – Quo vadis?  

Digital Repository Infrastructure Vision for European Research (DRIVER)

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 verte...

Debnath, Ujjwal K; Goel, Vivek; Harshavardhana, Nanjanduppa; Webb, John K

334

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

Scientific Electronic Library Online (English)

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

Szot M, Jorge

2004-07-01

335

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

Directory of Open Access Journals (Sweden)

Full Text Available OBJETIVOS: Caracterizar el comportamiento del Sistema Nacional de Salud (SNS) de México en la tarea de reducir el número de muertes por malformaciones congénitas mediante el análisis de la tendencia de las tasas de mortalidad infantil específicas por esas afecciones. MÉTODOS: Análisis de series de tiempos de las defunciones de niños y niñas menores de 1 año entre 1980 y 2005, según las bases de datos nacionales anuales de mortalidad de la Secretaría de Salud de México. Se calcularon las tasas de mortalidad infantil específicas (TMIe) por malformaciones congénitas graves más frecuentes en México: defectos del tubo neural, hernia diafragmática congénita, exonfalos (onfalocele y gastrosquisis) y malformaciones cardíacas y del tubo digestivo, agrupadas según el grado de urgencia y de sofisticación tecnológica que demanda su tratamiento y el desenlace más frecuente. RESULTADOS: Entre 1980 y 2005, la tasa de mortalidad infantil en México descendió de 40,7 a 16,9 por 1 000 nacimientos (? = -0,86; P OBJECTIVES: To evaluate the role that Mexico's National Health System (Sistema Nacional de Salud-SNS) has played in the task of reducing the number of deaths due to congenital malformations through a trends analysis of cause-specific infant mortality rates (IMRcs). METHODS: Time-series analysis of deaths of boys and girls under 1 year of age from 1980-2005, according to databases of national and annual mortality maintained by the Secretariat of Health of Mexico. Cause-specific mortality rates were calculated for the most frequently occurring, severe, congenital malformations in Mexico: neural tube defects, diaphragmatic hernias, exomphalos (omphalocele and gastroschisis), and heart and digestive tract defects, grouped according to severity, degree of technological sophistication required for treatment, and most frequent outcome. RESULTS: From 1980-2005, the infant mortality rate in Mexico decreased from 40.7 to 16.9 per 1 000 births (? = -0.86; P < 0.001); however, the mortality rate for congenital malformations rose from 2.2 to 3.5 per 1 000 births (? = 0.05; P < 0.001). Only infantile hypertrophic pyloric stenosis and anorectal atresia, anomalies with good prognoses and treatments available in minimally-equipped facilities, exhibited downward trends in their IMRcs (? = -0.01 to -0.09; P < 0.001); while malformations requiring immediate treatment in specialized facilities showed rising IMRcs (? = 0.03 to 0.05; P < 0.001). CONCLUSIONS: The development of Mexico's SNS from 1980-2005 has not translated into a reduction of mortality from congenital malformations; this deficiency was more pronounced for anomalies that require immediate treatment and sophisticated technology.

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

2008-01-01

336

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

Scientific Electronic Library Online (English)

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

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

2010-12-01

337

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 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; 6 (more) 8,1%), 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 2008. 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 with (more) out 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.

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

2011-03-01

338

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

Scientific Electronic Library Online (English)

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

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

2007-02-01

339

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

Scientific Electronic Library Online (English)

Full Text Available 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 complexidade de tais decisões coloca os casais numa encruzilhada, em que qualquer dos caminhos escolhidos marcará as suas vidas. As vivências do progenitor masculino (more) 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 complexity 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 resear (more) chers 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.

Sousa, Lucília; Pereira, M. Graça

2009-01-01

340

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

Scientific Electronic Library Online (English)

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

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

2012-12-01

 
 
 
 
341

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

2012-01-01

342

Electronic clinical laboratory reports as a source for ascertaining and confirming chromosomal anomalies reported to the New York State Congenital Malformations Registry.  

UK PubMed Central (United Kingdom)

CONTEXT: Hospitals and physicians are required to submit case reports with confirmatory diagnosis information to the New York State Congenital Malformations Registry (CMR) on children who are born or reside in New York State and are diagnosed with major birth defects. However, the majority of the cases with chromosomal anomalies indicated in the hospital discharge files are reported to the CMR without confirmatory testing data, which are usually not available at the time of reporting. OBJECTIVE: To link the cytogenetic test reports, submitted by cytogenetic testing laboratories via Electronic Clinical Laboratory Reporting System (ECLRS), to the CMR cases in order to obtain confirmatory diagnoses and identify unreported cases with chromosomal anomalies. DESIGN: : Cytogenetic testing data, submitted by the New York State licensed laboratories, that are stored on the ECLRS Sybase server were retrieved and matched to the CMR cases. The laboratory testing results were used to confirm diagnoses of the CMR cases for matched reports and to ascertain new birth defects cases by auditing hospitals and physicians using unmatched reports with abnormal testing results. RESULTS: By the end of 2010, a total of 927 reports on 747 children were submitted to the CMR by 14 cytogenetic testing laboratories via the New York State Department of Health ECLRS. Among the 747 children reported, 398 children (53%) had abnormal test results and 412 children (55%) were matched to the CMR cases. From these laboratory reports, 151 new cases with chromosomal anomalies were identified, confirmed, and were added to the CMR. The additional cases accounted for about 7.8% of all cases with chromosomal anomalies in the CMR for the reporting years 2008-2010. CONCLUSIONS: Cytogenetic laboratory reports can serve as an important source for ascertaining and confirming chromosomal anomalies. Acquiring molecular genetics testing data directly from cytogenetic testing laboratories via ECLRS enables CMR staff to confirm diagnoses and improve the accuracy and efficiency of case reporting.

Tao Z; Wang Y; Dicesare DK; Chang HG; Steen PM; Cross PK; Druschel CM

2013-03-01

343

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

Scientific Electronic Library Online (English)

Full Text Available 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 gene (more) s 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 becomes 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 lo (more) cation 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.

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

2012-06-01

344

The Impact of Congenital Cardiovascular Malformations on the Assessment and Surgical Management of Infants With Cleft Lip and/or Palate.  

UK PubMed Central (United Kingdom)

Objective :? The purpose of this study was to assess the cardiac evaluation of cleft lip and/or palate patients, characterize their cardiovascular malformations, and determine the impact of cardiovascular malformations on surgical management. Design :? A single-institution retrospective study of 329 consecutive cleft patients was performed. Cardiovascular malformations were categorized according to involvement of cardiac septa, vasculature, and valves. Their impact on the need for cardiac surgery, timing of cleft repair, need for subacute bacterial endocarditis (SBE) prophylaxis, and the perioperative experience was evaluated. Results :? Ten percent (33/329) of cleft patients had a cardiovascular malformation, and 3% underwent cardiac surgery prior to cleft repair. Malformations of the septa, vasculature, and valves were present in 9%, 6%, and 2% of cleft infants, respectively. Murmur as a sign of structural cardiovascular disease was 79% sensitive and 97% specific. Cleft palate repair was delayed by 2 months in patients with a cardiovascular malformation (P = .001). Subacute bacterial endocarditis prophylaxis was recommended, not recommended, or not specified by cardiology in 18%, 33%, and 48% of cleft patients with a cardiovascular malformation, respectively. Postoperative stay and surgical complications were not associated with cardiovascular malformation. Conclusions :? Even in the absence of a murmur, echocardiographic screening should be considered in infants with nonspecific signs of cardiovascular disease. Greater awareness of the guidelines for SBE prophylaxis is needed. Most cleft patients with a cardiovascular malformation do not require cardiac surgery and do not experience an increased rate of complications associated with cleft surgery.

Harry BL; Tebockhorst S; Deleyiannis FW

2013-05-01

345

[Surgical treatment of vascular malformations  

UK PubMed Central (United Kingdom)

In spite of the numerous advances made over the last two decades, the treatment of congenital vascular malformations continues to be one of the greatest enigmas facing modern medicine. There are no clear criteria concerning the indications to be followed, and even less concerning the most appropriate therapeutic procedures for each type of lesion. The results of a strictly surgical approach are discouraging and today it is accepted that congenital vascular malformations should be attended to and treated by multidisciplinary units, combining the efforts of all the specialists involved in its treatment. This paper reviews the general principles of surgical treatment of congenital vascular malformations, without losing sight of the fact that the traditional role of isolated surgery in the treatment of congenital vascular malformations has been replaced by a multidisciplinary approach to this type of lesions, making it possible to integrate embolization, sclerotherapy and surgery to improve the results. The combination of these techniques reduces the risk and complications that existed when they were applied in an isolated form. Thus, surgical treatment should not be considered as an independent tool of treatment but as a therapeutic weapon integrated in the ensemble of measures directed at improving the quality of life of the patient with a congenital vascular malformation.

Fernández Alonso L

2004-01-01