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At least 55 records · Page 3Linked to original sources
PubMed1997

Volumetric changes following barrier regeneration procedures for the surgical management of grade II molar furcation defects in baboons: I. Overall defect fill.

A computer imaging technique has been advocated for measuring the volumetric fill in furcation defects. Histologic material for this investigation was obtained from an animal study using five adult baboons (Papio anubis). The photographed histology was converted into digitized electronic information, and a computer calculated the overall volume of defect fill for the treated and the untreated control sites. All volumetric measurements were expressed as a percentage of the original surgically created defect size, with 100% indicating complete healing of the defect. The results indicate that none of the defects achieved complete healing. Teeth that had received flap debridement had the most overall defect fill (79.50%). Teeth that received a biodegradable barrier (Epi-Guide) showed a mean overall defect fill of 74.98%, while sites treated with an exclusion barrier (Gore-Tex) showed 70.75% overall fill. The untreated control teeth showed a mean overall fill of 78.70%. A variety of statistical tests revealed no significant differences among teeth within the same animal and between treatments and controls. The following conclusions were drawn: (1) digital imaging technology is a useful research tool for determining the volume of defect fill in surgically created grade II molar periodontal furcation defects in the baboon model; and (2) no significant differences were found among the treatment modalities and the untreated control sites.

Animals↗
PubMed2006

Clinician reviewers in birth defects surveillance programs: survey of the National Birth Defects Prevention Network.

BACKGROUND: Some birth defects surveillance programs utilize a clinician reviewer ("Clinician") to assist the multidisciplinary staff in the process of case review, coding and classification. The untested assumption is that expertise in the evaluation of individuals with birth defects and genetic syndromes in clinical practice, usually clinical genetics, is useful in reviewing medical records. METHODS: We conducted an exploratory survey of the 50 functioning birth defects surveillance programs that participated in the National Birth Defects Prevention Network in 2004. The survey was mailed electronically to program coordinators and included 10 questions with check-off option replies. Open-ended comments were also solicited. RESULTS: Responses were received from 31 of 50 (62%) programs, 21 (68%) which used a Clinician. In addition to the 9 centers that identified themselves as participants in the National Birth Defects Prevention Study (NBDPS), there were 12 non-NBDPS programs using a Clinician, 2 of whom were not clinical geneticists (1 nurse genetic counselor and 1 primary pediatrician). A total of 86% (18/21) of Clinicians were employed part-time or as consultants; 1 was full-time, and 2 were volunteers. In addition to the core activities of classifying defects and reviewing cases to determine if a syndrome was present, over one-half of the Clinicians participated in education of birth defects surveillance programs staff, research, and program development. Most (86%; 18/21) Clinicians had been trained informally for their roles. Only 1 had received a formal performance review. CONCLUSIONS: Aside from the 9 centers in the NBDPS in which the position of Clinician is funded by the Centers for Disease Control and Prevention (CDC), about one-half of the remaining respondent birth defects surveillance programs used a Clinician. Future research is needed to determine why a birth defects surveillance program hires or refrains from using a Clinician, and whether a Clinician accomplishes the desired goals. This survey reveals a lack of formal training for the Clinicians in their roles in the surveillance programs, and a lack of quality monitors, which might be addressed in the future.

Congenital Abnormalities↗
PubMed2000

Thoracic skeletal defects in myogenin- and MRF4-deficient mice correlate with early defects in myotome and intercostal musculature.

Myogenin and MRF4 are skeletal muscle-specific bHLH transcription factors critical for muscle development. In addition to a variety of skeletal muscle defects, embryos homozygous for mutations in myogenin or MRF4 display phenotypes in the thoracic skeleton, including rib fusions and sternal defects. These skeletal defects are likely to be secondary because myogenin and MRF4 are not expressed in the rib cartilage or sternum. In this study, the requirement for myogenin and MRF4 in thoracic skeletal development was further examined. When a hypomorphic allele of myogenin and an MRF4-null mutation were placed together, the severity of the thoracic skeletal defects was greatly increased and included extensive rib cartilage fusion and fused sternebrae. Additionally, new rib defects were observed in myogenin/MRF4 compound mutants, including a failure of the rib cartilage to contact the sternum. These results suggested that myogenin and MRF4 share overlapping functions in thoracic skeletal formation. Spatial expression patterns of skeletal muscle-specific markers in myogenin- and MRF4-mutant embryos revealed early skeletal muscle defects not previously reported. MRF4-/- mice displayed abnormal intercostal muscle morphology, including bifurcation and fusion of adjacent intercostals. myogenin/MRF4-mutant combinations displayed ventral myotome defects, including a failure to express normal levels of myf5. The results suggested that the early muscle defects observed in myogenin and MRF4 mutants may cause subsequent thoracic skeletal defects, and that myogenin and MRF4 have overlapping functions in ventral myotome differentiation and intercostal muscle morphogenesis.

Alleles↗
PubMed2004

Ultrasonography and articular cartilage defects in the knee: an in vitro evaluation of the accuracy of cartilage thickness and defect size assessment.

The purpose of this cadaver study was to test the accuracy of ultrasonography in measuring cartilage thickness, and the extent and depth of induced cartilage defects on the medial and lateral femoral condyles of the knee in a clinically relevant setting. With the knees maximally flexed, cartilage thickness was measured at 24 marked sites in four knees with a 10 MHz probe. The areas of measurement were then excised and the thickness measured with a calliper gauge. In another seven cadaver knees, 21 cartilage defects were produced. The defect diameter varied from 4 to 8 mm. The depths of the defects were either a partial cartilage defect (grade 2), a defect to intact subchondral bone (grade 3), or a defect involving subchondral bone (grade 4) (classification by ICRS). The limits of agreement between ultrasonography and calliper gauge measurement for cartilage thickness were chi(diff)+/-2SD(diff)=0.0+/-0.4 mm. For cartilage defect diameter, the limits of agreement between ultrasonography and the slide ruler measurement were chi(diff)+/-2SD(diff)=-0.2+/-1.0 mm. For the depths of the lesions there was a 100% agreement between radiologist and actual lesion depth for the classification into International Cartilage Repair Society (ICRS) grades 2, 3, and 4. Our conclusion is that ultrasonography is capable of measuring accurately both cartilage thickness and the extent and depth of induced cartilage defects in a cadaver model.

Aged↗
PubMed2006

Visual field defects and retinal nerve fiber layer defects in eyes with buried optic nerve drusen.

PURPOSE: To evaluate the visual field with the use of automated perimetry and to evaluate the retinal nerve fiber layer (RNFL) with optical coherence tomography (OCT) in patients with buried optic nerve drusen (OND). DESIGN: Observational case control study. METHODS: Eyes with buried OND were defined as eyes with ultrasound-proved drusen that were not visible with indirect slit-lamp biomicroscopy. All eyes underwent automated perimetry. Some eyes underwent OCT to evaluate the RNFL. RESULTS: Fifty-eight eyes of 41 patients with buried OND were evaluated. Three eyes (5%) had inferior arcuate scotomas. The other 55 eyes did not have visual field defects. Twenty-one of the eyes without visual field defects underwent RNFL analysis with OCT. All 21 eyes had normal average RNFL thickness. Some eyes had focal RNFL defects, but it is not clear whether these defects were clinically significant. CONCLUSION: Visual field defects are uncommon in eyes with buried OND. Eyes with buried OND may have focal RNFL defects but have normal average RNFL thickness. In patients with buried OND and a visual field defect, consideration should be given to searching for other causes of the defect, especially if the defect is substantial.

Adolescent↗
PubMed2003

Myocardial thallium defects in apical hypertrophic cardiomyopathy are associated with a benign prognosis. Thallium defects in apical hypertrophy.

BACKGROUND: We investigated whether myocardial thallium-201 defects in patients with apical hypertrophic cardiomyopathy are associated with an unfavorable clinical outcome, and additionally compared the presence of defects to echocardiography and angiography findings. METHODS: Dipyridamole thallium-201 single photon emission tomography was performed in 26 apical hypertrophic cardiomyopathy patients, aged 41-78 (22 men, 6 women). Patients with or without perfusion defects were compared for echocardiographic measurements of wall thickness, chamber dimensions, and fractional shortening. Twelve patients underwent coronary angiography. The occurrence of cardiac events was evaluated during clinical follow-up for a mean period of 4.3 +/- 1.9 years (range: 1.0-7.0 year). RESULTS: Thirteen patients (50%) showed perfusion defects, which were predominantly reversible (fixed in 1) and mostly apical (9 of 13). Patients with and without defects did not differ in symptoms, EKG findings, echocardiographic morphology or fractional shortening (41 +/- 4 vs. 41 +/- 7%). Coronary angiography was normal in all patients in whom it was performed (nine with and three without defects). During follow-up, there were no deaths or myocardial infarction. Of the defect positive group, one case developed paroxysmal supraventricular tachycardia, and another had a cerebrovascular accident. Of the defect negative group, one case developed sick sinus syndrome, while another had a hospital admission for anginal pain. CONCLUSIONS: While reversible thallium defects in the absence of coronary artery disease occur frequently in patients with apical hypertrophic cardiomyopathy, the prognosis remains benign despite the presence of ischemia and there is no evidence for an association with adverse patient outcome.

Adult↗
PubMed2006

Practitioner reporting of birth defects in children born following assisted reproductive technology: Does it still have a role in surveillance of birth defects?

BACKGROUND: National assisted reproductive technology (ART) data collections that rely on practitioners' reports of birth defects have consistently reported lower proportions of children with birth defects than record linkage studies that link ART infants to birth and malformation registers. METHODS: We compared the birth defect data reported to the national Australian Assisted Conception Data Collection (ACDC) by practitioners at three Western Australian ART clinics with the birth defect data identified on the Western Australian Birth Defects Registry (WABDR) through record linkage of all the pregnancies conceived at these clinics to the WABDR. Cases are reported to the WABDR by multiple statutory and voluntary sources. RESULTS: We found that the national ACDC significantly underestimated the prevalence of birth defects in WA-born ART infants. Less than one-third of ART children identified with a major birth defect on the WABDR were reported to the ACDC. CONCLUSIONS: Although national ART data collections provide valuable information on pregnancy rates and short-term pregnancy outcomes such as multiple birth and birth weight, we strongly recommend that birth defect information used for patient counselling is preferentially drawn from large studies that have used record linkage to high-quality birth defect registers.

Congenital Abnormalities↗
PubMed2004

Baseline radiographic defect angle of the intrabony defect as a prognostic indicator in regenerative periodontal surgery with enamel matrix derivative.

INTRODUCTION: The baseline radiographic defect angle has previously been correlated with the clinical outcomes of intrabony defects treated with access flap or guided tissue regeneration. The aim of this study was to investigate whether an association exists between baseline radiographic defect angle and treatment outcome when enamel matrix derivative (EMD) is used in periodontal regenerative surgery. MATERIALS AND METHODS: Baseline radiographs were collected from the test group of a previously published clinical trial using a population of 166 patients treated for chronic periodontitis. All intrabony defects were > or =3 mm for inclusion in the original study. Either modified or simplified papilla preservation technique was used to access the defect. The roots were conditioned with an EDTA gel and the primary outcome measure was clinical attachment level (CAL) change, 1 year after surgery. RESULTS: Sixty-seven radiographs were measurable. The probability of obtaining CAL gain >3 mm was 2.46 times higher (95% confidence interval: 1.017-5.970) when the radiographic defect angle was < or =22 degrees than when it was > or =36 degrees. CONCLUSIONS: This study showed that there was a significant association between baseline radiographic defect angle and CAL gain at 1 year. The observed increased odds ratio of obtaining CAL gain of > or =4 mm after regenerative surgery with EMD is used in narrow (< or =22 degrees ) intrabony defects, suggests that the baseline radiographic defect angle might be used as a prognostic indicator of treatment outcome.

Adult↗
PubMed1995

[Sensitivity and specificity of the Heidelberg retinal tomograph for imaging nerve fiber bundle defects in glaucoma patients with localized visual field defects. Clinical study].

In order to verify whether nerve fiber bundle defects can be detected by the confocal technique of the Heidelberg Retina Tomograph (HRT), we compared the localization of localized visual field defects with the localization of the expected corresponding nerve fiber bundle defect. We examined 105 patients: 49 with primary open-angle glaucoma (POAG), 26 with low-tension glaucoma (LTG) and 10 with ocular hypertension (OH), and as a control-group 20 healthy eyes. The glaucoma stage had been defined by examination of the central visual field with the Octopus Perimeter 201 program 31 or 32 and/or the Humphrey Perimeter GG program. In healthy eyes, eyes with OH and POAG stage I (n = 19), no nerve fiber bundle defect could be found. In stage II (n = 15) and stage III (n = 14) we found nerve fiber bundle defects in all patients with POAG and LTG (except for one patient with POAG stage III). In stage IV (n = 27) no localized nerve fiber bundle defects were detected in eyes with POAG, but in 4 of 7 patients with LTG, defects could be seen. In glaucoma stages II and III, nerve fiber bundle defects can be detected with the HRT. The control group shows, that the appearance of a nerve fiber bundle defect is no artifact caused by the HRT. However, examination of eyes with OH and POAG stage I also shows that this method is not sensitive enough to be useful for early diagnosis of glaucoma. Nevertheless, it may be possible to develop the confocal HRT method further as a nerve-fiber diagnostic method for glaucoma.

Glaucoma↗
PubMed1976

Diagnosis of endocardial cushion defect with cross-sectional and M-mode scanning echocardiography. Differentiation from secundum atrial septal defect.

Twelve cases of endocardial cushion defect were studied before and after operation with ultrasono-cardiotomography (tomography) cross-sectional echocardiography, two-dimensional echocardiography, B-scan echocardiography) and M-mode scan along a horizontal section of the heart. For comparison, 20 healthy subjects, 18 cases of mitral valvular disease, 4 cases of congestive cardiomyopathy, 1 case of partial anomalous pulmonary venous drainage, and 25 cases of atrial septal defect of secundum type were also examined with the same technique. In cases without cardiac malformation, the echo of the anterior mitral valve was usually continuous medially with that of the interatrial septum in the horizontal plane at the level of the membranous septum. This feature was clearly recorded in all cases with right heart enlargement. In ostium secundum atrial septal defect the echo of the anterior mitral valve continued into that of the interatrial septum. An echo interruption was shown, indicating the defect itself to be in the middle part of the interatrial septum. In all the cases of endocardial cushion defect which we examined discontinuity was shown between the echo of the anterior mitral valve and that of the interatrial septum. This discontinuity was interpreted as indicating the defect itself. The mitral valve ring echo was close to the basal end of that of the interventricular septum, possibly reflecting an abnormal attachment of the mitral valve. In all cases, after operation, the echo of the artificial interatrial septum was recorded, continuous with that of the anterior mitral valve. The features of the echocardiographic sweep from the anterior mitral valve to the interatrial septum were thus different in the three groups. These echocardiographic differences are thought to correspond to the anatomical differences between the normal, atrial septal defect of secundum type, and endocardial cushion defect, and are essential features differentiating them from each other.

Adolescent↗
PubMed1993

Occurrence risk for congenital heart defects in relatives of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

BACKGROUND: Knowledge of the risk of occurrence of congenital heart defects in offspring of individuals with a congenital heart defect is important for genetic counseling and understanding the etiology of congenital heart diseases. METHODS AND RESULTS: A portion of the questionnaire mailed to all patients in the Second Natural History Study of Congenital Heart Defects (NHS-2) addressed marital status, pregnancy, miscarriage, and presence or absence of congenital heart defects or other congenital malformations in first-degree relatives. Offspring were not examined as a part of the study. For male probands with aortic stenosis (AS), three of 251 offspring had congenital heart disease, whereas one of 72 offspring of female probands with AS had congenital heart disease. For patients with pulmonary stenosis (PS), three of 176 offspring of male probands had congenital heart disease, whereas eight of 205 offspring of female probands had congenital heart disease. For male probands with ventricular septal defect (VSD), 10 of 334 offspring had congenital heart defects, and 11 of 384 offspring of female probands with VSD had offspring with congenital heart defects. The prevalence rate for noncardiac congenital anomalies in offspring of probands was 2%. CONCLUSIONS: Based on known congenital heart defects in offspring of probands in the NHS-2, occurrence rates of congenital heart disease in children of subjects with AS, PS, and VSD were 1.2% (confidence interval [CI], 0.34-3.1%), 2.8% (CI, 1.4-5.1%), and 2.9% (CI, 1.8-4.4%), respectively.

Adolescent↗
PubMed1997

Use of stored newborn blood spots in research on birth defects: variation in retrieval rates by type of defect and infant characteristics.

Stored blood spots from state newborn screening programs represent a potential source of DNA for molecular genetics research on birth defects. The stored blood spots of cases and controls from an epidemiologic database on congenital heart defects were sought in the present study, which aimed to establish the feasibility of linking the data sources and to examine blood spot retrieval rates for selected cardiac defects. Blood spots were located on 341 of 522 infants (65%) with congenital heart defects and for 1,484 of 1,645 infants without birth defects (84%) born in Maryland during 1981-1989. Retrieval rates were low among infants with clinically severe lesions such as truncus arteriosus (26%) but were considerably higher in infants with coarctation of the aorta (62%), pulmonic valve stenosis (71%), and atrial septal defect (76%). Retrieval rates were significantly lower for premature and low-birth-weight infants than among full-term, normal-birth-weight infants. Retrieval rates did not vary significantly by gender, race, county of residence, or parental socioeconomic characteristics. These results demonstrate the feasibility of linking epidemiologic databases with stored newborn blood specimens, especially for normal infants and even for infants with certain congenital heart defects, but raise concerns about the adequacy of such methods to obtain stored specimens from premature infants and from those with severe heart defects.

Female↗
PubMed2001

Device closure of fenestrated atrial septal defects: use of a single Amplatz atrial septal occluder after balloon atrial septostomy to create a single defect.

Successful transcatheter device closure of secundum atrial septal defect has achieved worldwide acceptance with the clinical use of the Amplatz atrial septal occluder. However, device closure of multiple fenestrated secundum atrial septal defects remains a challenge for the interventionist and in some cases may be only effectively closed surgically. This case report of multiple fenestrated atrial septal defects represents a further expansion of technologic efforts to improve the results and simplify the mechanism of device closure of fenestrated defects. When device closure with more than one device seems impractical or disadvantageous, consolidation of multiple defects in a fenestrated fossa ovalis by simple balloon atrial septostomy as demonstrated by this case report provides an easy mechanism to allow implantation of a single large device which will effectively close all of the defects. This approach is similar to the surgical approach for resection of the fenestrated membrane with secondary patch closure of the enlarged defect. Excellent and complete closure of a fenestrated secundum atrial septal defect is illustrated in this case report.

Balloon Occlusion↗
PubMed2004

Absent posteroinferior and anterosuperior atrial septal defect rims: Factors affecting nonsurgical closure of large secundum defects using the Amplatzer occluder.

Using transesophageal echocardiography, we sought to determine the anatomic characteristics of the secundum atrial septal defects (ASDs) that extend into the inferior sinus venosus and have no posteroinferior (PI) rim, to determine the factors related to potential closure with an Amplatzer occluder. We also sought to understand why large secundum ASDs with a PI but without an anterosuperior (AS) rim may require special techniques to reorient the left atrial disk before deployment of the waist and right atrial disk. We measured the lengths of 5 separate rims of the circumferences of 76 secundum ASDs, including anteroinferior, AS, superior, posterosuperior, and PI rims. We also measured anteroposterior and superoinferior defect diameters, total septal lengths, and the ratios of defect diameter to total septal length. The atrial depth was measured at the axial angle of the delivery sheath in 5 defects with no AS rim for which special techniques were required to achieve successful closure. Of 76 secundum ASDs, 13 (17%) had no PI rim. Each defect extended from the fossa ovalis into the inferior sinus venosus. Compared with defects with a PI rim, the factors related to potential closure included 100% larger defect diameters, shorter posterosuperior rim lengths, larger defect to total septal length ratios, and completely flat posterior atrial walls. When the AS rim was absent the factors related to the need for special techniques included diameters >/= 22 mm, atrial depth < the calculated Amplatzer occluder left atrial disk diameter, rigid wire/disk interface, and obligatory left atrial disk orientation more or less perpendicular to the atrial septal plane.

Adolescent↗
PubMed1989

The absence of a relation between the periconceptional use of vitamins and neural-tube defects. National Institute of Child Health and Human Development Neural Tube Defects Study Group.

Whether taking multivitamins or folate around the time of conception can reduce a woman's risk of having a child with a neural-tube defect is controversial. To investigate this question, we examined the periconceptional use of vitamin supplements by women who had a conceptus with a neural-tube defect (n = 571), women who had had a stillbirth or a conceptus with another malformation (n = 546), and women who had had a normal conceptus (n = 573). Women with conceptuses with neural-tube defects were identified either prenatally or postnatally and were matched to control mothers for gestational age. To minimize recall bias, we interviewed nearly all the women within five months of the diagnosis of a birth defect or the birth of the infant (mean, 84 days); information on vitamin use was obtained by an interviewer who was unaware of the outcome of pregnancy. The rate of periconceptional multivitamin use among the mothers of infants with neural-tube defects (15.8 percent) was not significantly different from the rate among mothers in either the abnormal or the normal control group (14.1 percent and 15.9 percent, respectively). After adjustment for potential confounding factors, the odds ratio for having an infant with a neural-tube defect among women classified as having had full supplementation with multivitamins was 0.95 as compared with the mothers of the abnormal infants (95 percent confidence interval, 0.78 to 1.14) and 1.00 as compared with the mothers of normal infants (95 percent confidence interval, 0.83 to 1.20). There were no differences among the groups in the use of folate supplements. The adjusted odds ratio for having an infant with a neural-tube defect among those receiving the recommended daily allowance of folate was 0.97 as compared with the mothers of abnormal infants (95 percent confidence interval, 0.79 to 1.18) and 0.98 as compared with the mothers of normal infants (95 percent confidence interval, 0.80 to 1.20). We conclude that the periconceptional use of multivitamins or folate-containing supplements by American women does not decrease the risk of having an infant with a neural-tube defect.

Adult↗