PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “malformations”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 37 records · Page 2Linked to original sources
PubMed2003

Prospective, population-based detection of intracranial vascular malformations in adults: the Scottish Intracranial Vascular Malformation Study (SIVMS).

BACKGROUND AND PURPOSE: Intracranial vascular malformations (IVMs) are an important cause of intracranial hemorrhage, epilepsy, and long-term disability in adults. There are no published prospective, population-based studies dedicated to the detection of any type of IVM (cavernous malformations, venous malformations, and arteriovenous malformations [AVMs] of the brain or dura). Therefore, we established the Scottish Intracranial Vascular Malformation Study (SIVMS) to monitor detection and long-term prognosis of people with IVMs. METHODS: We used multiple overlapping sources of case ascertainment to identify adults (aged >or=16 years) with a first-ever-in-a-lifetime diagnosis of any type of IVM made between January 1, 1999, and December 31, 2000, while resident in Scotland (mid-1999 adult population estimate 4,110,956). RESULTS: Of 418 notifications to SIVMS, 190 adults (45%) were included, 181 (95%) of whom were deemed to harbor a definite IVM after review of diagnostic brain imaging and/or reports of autopsy/surgical excision pathology. The crude detection rate (per 100,000 adults per year) was 2.27 (95% CI, 1.96 to 2.62) for all IVMs, 1.12 (95% CI, 0.90 to 1.37) for brain AVMs, 0.56 (95% CI, 0.41 to 0.75) for cavernous malformations, 0.43 (95% CI, 0.31 to 0.61) for venous malformations, and 0.16 (95% CI, 0.08 to 0.27) for dural AVMs. CONCLUSIONS: In addition to providing data on the public health importance and comparative epidemiology of IVMs, continuing recruitment and follow-up of this prospective, population-based cohort will provide estimates of IVM prognosis.

Adolescent↗
PubMed2002

Gastrointestinal malformations in Funen county, Denmark--epidemiology, associated malformations, surgery and mortality.

AIM: To report the epidemiology, associated malformations, morbidity and mortality for the first 5 years of life for infants with gastrointestinal malformations (GIM). METHODS: Population-based study using data from a registry of congenital malformations (Eurocat) and follow-up data from hospital records. The study included livebirths, fetal deaths with a gestational age of 20 weeks and older and induced abortions after prenatal diagnosis of malformations born during the period 1980 - 1993. RESULTS: A total of 109 infants/fetuses with 118 GIM were included in the study giving a prevalence of 15.3 (12.6 - 18.5) cases per 10 000 births. Anal atresia was present in seven of the 9 cases with more than one GIM. There were 38 cases (35 %) with associated malformations and/or karyotype anomalies. Thirty-two of the 90 live-born infants died during the first 5 years of life with the majority of deaths during the first week of life. Mortality was significantly increased for infants with associated malformations or karyotype anomalies compared to infants with isolated GIM (p < 0.01). An uneventful surgical course was reported for 74 % of the 58 survivors. CONCLUSIONS: The prognosis for infants with GIM is highly dependent on the presence of associated malformations or karyotype anomalies. Surgery for GIM can be performed with low mortality. Morbidity is high for a small group of infants, but the majority of survivors have an uncomplicated surgical course.

Anal Canal↗
PubMed1979

Congenital cystic malformation of the lung. A form of congenital bronchiolar ("adenomatoid") malformation.

Of 41 cases of cystic lungs in children, 21 were found by microscopy to be due to congenital cystic malformation. In most of the remainder, chronic inflammation and fibrosis precluded differentiation from postinflammatory pneumatocele. A few were intermediate between cystic malformation and congenital lobar emphysema. The cystic malformations were 17 surgical and four necropsy specimens, and two thirds of the patients were under 1 year old. The condition was unilobar, and the cysts were thin-walled, up to 8 cm in diameter, multiple or multilocular, and microscopically resembled proliferated, dilated bronchioles communicating with alveoli. There was a wide range of size, shape, and number of cysts, and no sharp demarcation from adenomatoid malformation in stillborn infants. Thus, bronchiolar malformations fall into two overlapping clinicopathologic groups: (1) adenomatoid malformation in edematous stillborn and premature infants with perdominantly solid lobes showing more epithelial proliferation and immature terminal airways and (2) cystic malformation in term infants and children with predominantly cystic lobes and interspresed mature alveoli.

Bronchi↗
PubMedDate not supplied

Ocular malformations in human fetuses with external malformations.

Sixty undamaged human fetuses with various nonocular external malformations were selected randomly from a large number of fetuses collected by the Department of Anatomy Faculty of Medicine, Kyoto University, and examined macroscopically and stereomicroscopically for ocular and other external and internal malformations. Eighteen fetuses (30 percent) showed ocular malformations of the following types: approximated eyes (two cases), approximated eyes plus microncornea (one case), microphthalmia (eight cases), microcornea (three cases), corneal opacity (one case), transparent sclera (two cases), and antimongoloid obliquity of the palpebral fissure (one case). In addition, asymmetric insertion sites of the recti muscles, regarded as a minor deviation, were found in 12 cases (20.0 percent). Of the fetuses with malformations in the central nervous system 37.5 per cent showed ocular malformations. No specific causes of ocular malformations could be confirmed in the present study. However, drugs such as hormones, sedatives and antipyretics in the early stage of pregnancy, systemic diseases such as influenza, and dysplasia or dysfunction of the ovary or uterus might be related to the production of some ocular and other malformations.

Abnormalities, Multiple↗
PubMed1997

Dandy-Walker malformation diagnosed before 21 weeks of gestation: associated malformations and chromosomal abnormalities.

This study examined rates of concomitant structural and chromosomal abnormalities in 14 fetuses with a diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age, compared to 14 fetuses with a diagnosis of Dandy-Walker malformation or variant between 21 weeks' gestation and delivery. A total of 24 fetuses had Dandy-Walker malformation and four had Dandy-Walker variant. Eight of the fetuses with the malformation had ventriculomegaly: one of the fetuses with early diagnosis and seven with later diagnosis (p = 0.027). None of the fetuses with Dandy-Walker variant had ventriculomegaly. The overall prevalence of concomitant structural abnormalities was 13/28; 8/14 for fetuses with early prenatal diagnosis and 5/14 for fetuses with late prenatal diagnosis of the malformation or the variant. Chromosomal abnormality rates were significantly higher among fetuses with early prenatal diagnosis (7/14) than among those with later prenatal diagnosis (1/14; p = 0.032). Abnormal karyotypes were more prevalent among fetuses without ventriculomegaly (7/20), compared to fetuses with ventriculomegaly (1/8). We conclude that fetuses with an antenatal diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age have worse prognosis than fetuses with a later prenatal diagnosis of the same defect.

Adult↗
PubMed2003

A regional survey of malformed frogs in Minnesota (USA) (Minnesota malformed frogs).

In late 1995, school children discovered malformed frogs in a south central Minnesota pond. Press coverage resulted in numerous citizen reports of frog malformation across Minnesota in 1996. After some initial site investigation, 3 affected frog sites and 4 nearby reference sites were selected for more detailed evaluation. Field biologists made 89 visits to study sites beginning spring 1997 through fall 1999 to examine the number and type of frog malformations. Over 5,100 Leopard frogs (Rana pipiens) were captured and examined at all study sites. Water elevations and associated littoral inundation were recorded from 1997-2000. Results indicate that malformation occurred at all study sites above historical background levels. Rana pipiens malformation across all sites over three seasons averaged 7.9% and ranged from 0 to 7% at reference sites and 4 to 23% at affected sites. At one northern Minnesota site, mink frog (Rana septentrionalis) malformation was 75% in 1998. A site characteristic common to the most affected sites was an elastic zone of littoral inundation. Climate driven hydrologic variation likely influenced water depth and associated breeding locations.

Animals↗
PubMed1975

Electrocardiographical investigations of normal and malformed embryo and foetus hearts in humans, mammals, and avians. Electrocardiographical investigations of the experimentally malformed heart of the chick foetus.

The experimental technique was based on the injection of a 0.5 % Janus green B solution into the embryonic pharynx through a branchial slit, at the age of three days. This method of chemical endocauterization of the pharynx was elaborated by B. Menkes. Our experimental method produces a necrotizing intoxication of an extracardiac region (the region of the branchial arches) and cardiovascular malformations similar to those observed in human pathology have been obtained. This experimental group consisted of chick foetuses of 9 -- 11 days; their interventricular septation is normally fulfilled at the end of the 8th day of incubation. 342 foetuses with or without cardiovascular malformations have been examined by electrocardiography and 678 electrocardiographs have been recorded. Normal electrocardiographs of chick embryos were similar to those recorded in mammal and human embryos. The probability of a cardiovascular malformation could be assumed by direct electrocardiography in a proportion of 80 -- 85% while indirect electrocardiography could allow the diagnosis in a proportion of only 60 %. There are no pathognomonic electrocardiographs for a certain type of malformation, but the grouping of certain alteration of the electrical recording can suggest the existence of a cardiovascular malformation. Electrocardiographs recorded with experimentally malformed hearts recall the patterns of human foetal pathology.

Animals↗
PubMed1990

A case of medullary venous malformations with an arterial component coexisting with arteriovenous malformations.

We present a rare case of medullary venous malformations with an arterial component coexisting with two small arteriovenous malformations in the same area. The onset was abrupt with subcortical hematoma due to the rupture of one arteriovenous malformation in the frontal area. Single photon emission computed tomography using 99mTc-hexamethylpropyleneamine oxime showed a high-uptake area around the hematoma suggesting increased blood flow. Two types of vascular malformation coexisting in the same area support a theory of congenital malformation originating in intrauterine life.

Brain↗
PubMed2005

[Capillary malformations associated with cerebral cavernous malformation].

INTRODUCTION: Capillary malformations such as benign hereditary telangiectasia are a familial affection, of dominant autosomal transmission, characterized by the progressive development of cutaneous telangiectasia during childhood. The association with cutaneous vascular, arteriovenous or lymphatic malformations is exceptional and has only recently been described. CASE REPORT: A 5 year-old girl presented with widespread erythematous, predominantly telangiectasic, congenital and acquired macules when she was one year-old. Her history was marked by right temporal cerebral hemorrhage at the age of 4, revealing a right temporal cavernoma-like vascular malformation. The familial history of telangiectasic macules and clinical and histological examination led to the diagnosis of benign hereditary telangiectasia. DISCUSSION: This case report raises doubt on the exclusively cutaneous nature of benign hereditary telangiectasic-type capillary malformations. Moreover, it illustrates the possibility of a particular clinical form of this affection, associating classical telangiectasia and post-wine stain-type macules. The recent localization of the locus implied in this affection in 5q14 in the same chromosomic space as the CMC1 locus incriminated in familial capillary malformations, suggests that these two affections are in fact phenotype variations of a single and same clinical entity.

Central Nervous System Vascular Malformations↗
PubMed1993

Hemangiomas, vascular malformations, and lymphovenous malformations: classification and methods of treatment.

A total of 207 patients with hemangiomas, vascular malformations, and lymphovenous malformations were treated by the same surgeon from 1980 to 1990. Thirty-seven patients with true hemangiomas underwent surgical treatment. Only those hemangiomas which caused functional or developmental disturbances or those with complications were treated; many more were allowed to regress spontaneously. Sixty-five patients with low-flow and 16 with high-flow vascular malformations were treated by using a variety of surgical approaches. In low-flow lesions, sclerosant therapy can be extremely effective, either alone, in small lesions, or combined with surgical resection or embolization, in larger lesions. Preoperative embolization and surgical excision are the treatment of choice in high-flow malformations. Twenty-seven patients with lymphovenous malformations had only surgical excision with a high success rate. Sixty-two patients with acquired "senile hemangiomas" underwent a single local excision with excellent results. When indicated, angiography has been of great value as a diagnostic procedure to provide information about the vascular dynamics and the extent of these lesions, although magnetic resonance imaging is now being used more frequently for this purpose. Selective angiography also was used as a therapeutic modality when embolization was part of the treatment protocol. A new classification based on clinical, histologic, and vascular flow characteristics of these lesions has been used to simplify the present nomenclature and to help in selection of the most appropriate treatment. It has the added value of being in the language of the radiologist, who should be a member of the vascular anomalies team.

Adult↗
PubMed2005

Characterization of the integrin alpha v beta3 in arteriovenous malformations and cavernous malformations.

BACKGROUND: Alpha V beta 3 (alphavbeta3) is an integrin specifically expressed on the endothelial cells of central nervous system (CNS) neoplasms. However, no data exist on the expression of alphavbeta3 in vascular malformations of the CNS. In this study, we investigate the expression of alphavbeta3 in arteriovenous malformations (AVMs) and cavernous malformations (CMs). METHOD: Frozen samples of AVMs from 12 patients and CMs from 5 patients were obtained intraoperatively. Once the final pathology had been confirmed, immunohistochemistry was performed using an antibody to the integrin alphavbeta3. The alphavbeta3 expression pattern was graded according to the percentage of positively staining vessels. RESULTS: Ten of 12 AVMs demonstrated alphavbeta3 immunopositivity. Six of these 10 AVMs had moderate or strong staining. Most notably, 5 of the 6 moderate or strongly staining AVMs came from patients 22 years of age or younger. Four of these 6 AVMs had previously been embolized. None of the cavernous malformations demonstrated alphavbeta3 immunopositivity. DISCUSSION: alphavbeta3 may contribute to the formation of AVMs in younger patients. alphavbeta3 may also provide a potential therapeutic target. The lack of alphavbeta3 expression in cavernous malformations, despite their high vascular densities, suggests that the pathophysiology of their formation differs from that of AVMs.

Adolescent↗
PubMed1988

Thrombosed arteriovenous malformations: a type of occult vascular malformation. Magnetic resonance imaging and histopathological correlations.

Thrombosed arteriovenous malformations (AVMs) are the predominant type of occult vascular malformation and do not seem to differ significantly in clinical or radiographic presentation from other types of occult vascular malformations. Thrombosed AVMs and occult vascular malformations occasionally present with symptoms secondary to subacute or occult hemorrhage that requires operation. The histopathology of thrombosed AVMs and occult vascular malformations does not seem to have prognostic significance. Five patients with histologically verified thrombosed AVMs are reported. Two patients had previous incomplete resection of histologically proven thrombosed AVMs and presented with recurrence and bleeding. Two patients presented with seizures and headaches, and one patient presented with hemiparesis and headache. All histology specimens had evidence of hemorrhage. The pathological findings of these lesions seem variable; two specimens contained a mixture of cavernous angioma and AVM. Two previously resected lesions had been defined histologically as thrombosed AVMs. Successful excision of the lesions was accomplished in four patients, and one patient had stereotactic biopsy. The magnetic resonance imaging characteristics of lesions seem to add a degree of specificity over computed tomography and angiography. We have found that the literature poorly describes the natural history and histology of these lesions. Conservative management for seizures and headaches due to thrombosed AVMs may not be warranted because of a propensity for hemorrhage and recurrence.

Adult↗
PubMed1992

Induced and genetic mouse middle ear ossicular malformations: a model for human malformative ossicular diseases and a tool for clarifying their normal ontogenesis.

Oral administration of 13-cis retinoic acid (RA) to pregnant mice on the 9th gestation day provokes important malformations of the middle ear ossicles, associated with a general kind of craniofacial dysmorphogenesis evoking the human mandibulofacial dysostosis. The malleus, incus and stapes are affected. The malleus exhibits a handle separated from its head and keeping a persistant relationship with the tubotympanic recess. The stapes makes no contact with the otic capsule. The malformation pattern is visible early as shown by the appearance of an abnormally curved Meckel's cartilage at day 12, followed by the development of atypically shaped ossicular anlagen. The mouse "far" (first arch malformation) mutation is responsible for minor ossicular abnormalities which disrupts the normal relationships between the stapes, Reichert's cartilage and stapedial muscle. The administration of RA to pregnant mice and the comparison with a genetically induced malformation (the mutation far) provides some interesting information about the postulated mechanisms of human middle ear dysmorphogenesis, as well as precious data about the features of normal ossicular primordia formation. The comparison of these features with human middle ear abnormalities as revealed by medical imaging sheds light on human malformation patterns and provides a better understanding of normal and abnormal radiologic ossicular aspects.

Abnormalities, Drug-Induced↗
PubMedDate not supplied

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

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.

Adult↗
PubMed1992

Improved ascertainment of cardiovascular malformations in infants with Down's syndrome, Atlanta, 1968 through 1989. Implications for the interpretation of increasing rates of cardiovascular malformations in surveillance systems.

Several birth defects surveillance systems have shown an upward trend in the birth prevalence of several congenital cardiovascular malformations. Improvements in clinical ascertainment have been suggested as an explanation for this increase. For several decades, 40-50% of infants with Down's syndrome have been reported to have cardiac defects associated with the unbalanced genotype. Therefore, secular changes in the frequency of ascertained cardiovascular malformations among infants with Down's syndrome in surveillance systems could shed light on improvements in the ascertainment of these defects. The authors examined changes in the frequency of ascertained cardiovascular malformations among 532 cases of Down's syndrome recorded in the Metropolitan Atlanta Congenital Defects Program from 1968 through 1989. Overall, 33% of the cases have reported cardiovascular malformations. However, the frequency of these defects in Down's syndrome infants increased dramatically from about 20% in the early 1970s to more than 50% in the late 1980s (p = 0.0001). This upward trend was seen for all major categories of cardiac defects and persisted after the cases were stratified by race, sex, maternal age, hospital of birth, birth weight, and gestational age. These results show improvement in the ascertainment of cardiovascular malformations among Down's syndrome infants in a surveillance population. They are also consistent with the hypothesis that the increasing rates of cardiac defects are related, at least in part, to improved ascertainment of these defects in the population.

Down Syndrome↗
PubMed1977

Frequent coexistence of ocular malformations in externally malformed human fetuses.

60 undamaged human fetuses with some types of external malformations were taken from the human embryo and fetus collection at the Department of Anatomy, Kyoto University. They were examined macroscopically and stereo-microscopically for ocular and other external and internal malformations. 18 cases, that is 30% of the group, showed ocular malformations of the following type: approximated eyes (2 cases), approximated eyes + microcornea (1), microphthalmia (8), microcornea (3), corneal opacity (1), transparent sclera (2), antimongoloid obliquity of the palpebral fissure (1). In addition, asymmetric insertion site of the recti muscle(s) which can be regarded as a minor deviation, was found in 10 cases (16.7%). Other types of malformations were found simultaneously in a variety of organ systems and regions. No particular maternal factors were suggested to be related to such coexisting ocular malformations.

Abnormalities, Multiple↗