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PubMed1991

Risk factors for birth defects: data from the Atlanta Birth Defects Case-Control Study.

The Atlanta Birth Defects Case-Control Study data comprises information obtained from interviews with parents of 4,900 babies born with major birth defects and with the parents of 3,000 babies born without defects. The source of cases is the Centers for Disease Control's Metropolitan Atlanta Congenital Defects program; the case-control study is population-based. Birth defects are classified into 92 groups and cross-tabulated by 105 exposure/risk factor variables; data from selected cross-tabulations are presented. The associations of each of the 105 exposure variables with all types of defects combined are presented, as are the associations of each of the 92 defect groups with the specific exposure variable, maternal diabetes. These data can be used to evaluate hypotheses arising from other sources, and for the purpose of "generating" hypotheses. The data describing all 92 x 105 cross-tabulations are available to other investigators on floppy disk; write to Chief, Birth Defects and Genetic Diseases Branch, Centers for Disease Control, Atlanta, Georgia 30333.

Analysis of Variance↗
PubMed1985

Prolactin production by explants of normal, luteal phase defective, and corrected luteal phase defective late secretory endometrium.

The production of prolactin by explants of late secretory endometrium has been correlated with the extent of decidual differentiation. This correlation is strengthened by the observation that luteal phase defective endometrium produces less prolactin than normal control endometrium in a 24-hour in vitro culture system. In the present study the prolactin production by explants of normal, luteal phase defective, progesterone-corrected luteal phase defective, and clomiphene- or follicle-stimulating hormone/luteinizing hormone-corrected luteal phase defective late secretory endometrium was measured over 96 hours at 24-hour intervals. Progesterone in physiologic concentrations was added to the culture medium to maintain tissue integrity and prolactin synthesis. The prolactin production of normal late secretory endometrium rose over 96 hours under progesterone stimulation. The luteal phase defective endometrium produced significantly less prolactin under the same conditions. Histologically proven corrected luteal phase defective endometrium, regardless of treatment method, produced prolactin not different from the normal controls of the same dates. From these results it is concluded that histologic correction of luteal phase defective endometrium is associated with a corresponding biochemical correction with use of prolactin as a metabolic marker. The findings also strongly support timed endometrial biopsy as the method of diagnosis and evaluation of treatment of luteal phase defect.

Biopsy↗
PubMed2000

Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

Autosomal dominant type IIa hypercholesterolaemia (ADH) is characterised by an elevation of total plasma cholesterol associated with increased LDL particles. Numerous different molecular defects have been identified in the LDL receptor (LDLR) and few specific mutations in the apolipoprotein B (APOB) gene resulting in familial hypercholesterolaemia and familial defective apoB-100 respectively. To estimate the respective contribution of LDLR, APOB and other gene defects in this disease, we studied 33 well characterised French families diagnosed over at least three generations with ADH through the candidate gene approach. An estimation of the proportions performed with the HOMOG3R program showed that an LDLR gene defect was involved in approximately 50% of the families (P = 0.001). On the other hand, the estimated contribution of an APOB gene defect was only 15%. This low estimation of ADH due to an APOB gene defect is further strengthened by the existence of only two probands carrying the APOB (R3500Q) mutation in the sample. More importantly and surprisingly, 35% of the families in the sample were estimated to be linked to neither LDLR nor APOB genes. These data were confirmed by the exclusion of both genes through direct haplotyping in three families. Our results demonstrate that the relative contributions of LDLR and APOB gene defects to the disease are very different. Furthermore, our results also show that genetic heterogeneity is, generally, underestimated in ADH, and that at least three major groups of defects are involved. At this point, the contribution of the recently mapped FH3 gene to ADH cannot be assessed nor its importance in the group of 'non LDLR/non APOB' families.

Apolipoproteins B↗
PubMed2001

Long-term results following reconstruction of craniofacial defects with titanium micro-mesh systems.

Introduction: Reconstruction of craniofacial defects can be carried out with autogenous tissue (calvarium, rib, iliac crest), allogeneic implants (AAA-bone, lyophilized cartilage) or alloplastic material (methacrylate, hydroxyapatite, titanium implants and mesh systems). Selection of the implant material used for reconstruction is still controversial. Material and Methods: At the Department of Oral and Maxillofacial Surgery, Kantonsspital Luzern, 20 patients with defects in the craniofacial and/or orbito-ethmoidal region have been treated using titanium micro-mesh between 1991 and 1998. Two different mesh systems, micro-titanium augmentation mesh and dynamic mesh, have been used for bony reconstruction in non load-bearing areas. The defects were caused by acute trauma, osteomyelitis of the frontal bone and previous operations. The titanium micro-mesh was used with the following indications: (1) immediate reconstruction in the primary treatment of comminuted fractures with bone loss in non load-bearing areas, (2) treatment of contour irregularities (possibly in combination with bone or cartilage grafts). All patients were followed up clinically and radiographically at quarterly intervals for a year. Results: No wound infections, exposures or loss of the mesh have been observed. Long-term stability of the reconstructions was excellent. When walls of the paranasal sinuses were reconstructed complete repneumatisation took place. Conclusions: Advantages of this reconstructive technique are: (1) universal applicability (craniofacial, orbital, sinus defects, comminuted fractures); (2) stable 3-D reconstruction of complex anatomic structures were easily performed; (3) immediate availability with no donor site morbidity as bone or cartilage grafts were not necessary; (4) combination with bone or cartilage grafts is possible; and (5) very low susceptibility to infection. Copyright 2001 European Association for Cranio-Maxillofacial Surgery.

Journal Article↗
PubMed1990

Treatment of periodontal furcation defects. Coronally positioned flaps versus dura mater membranes in class II defects.

Mandibular class II furcation defects in 19 subjects were treated using 2 different methods of wound closure. In 16 of the defects, the wound was closed with a coronally positioned surgical flap secured by crown-attached sutures. In 15 of the defects, a collagenous membrane (freeze-dried dura mater) was placed to cover the exposed defect, followed by suturing of the surgical flap at the level of the alveolar crest. After use of a coronally positioned flap, an average of 70% of the defect volume became filled with bone, with complete closure by bone fill for 9 of the 16 treated defects. After use of dura mater membrane, 38% of the defect volume was filled with bone, with complete bony closure for 3 of the 15 treated defects. The results following use of coronally positioned flaps support our previous findings and the potentials of this technique. The results following use of dura mater membranes, together with recently reported risk for spread of virus with dura implants, do not justify the use of dura mater for these regenerative purposes.

Adult↗
PubMed1991

Treatment of periodontal furcation defects. Mandibular class III defects.

Twenty-seven mandibular class III furcation defects were treated in 27 subjects using a regenerative therapy that included citric acid root conditioning and coronally positioned flaps secured by crown-attached sutures. In addition to this therapy, 13 of the 27 defects received freeze-dried, decalcified allogenic bone grafts. The effect of these therapies was evaluated from soft tissue probing measurements, including furcation probings to determine soft tissue closure of the defects. At 6 months postsurgery, the mean vertical probing depth reduction and the mean probing attachment level gain in the furcation area were 2.6 mm and 2.2 mm for the non-grafted defects and 1.9 mm and 1.5 mm for the grafted defects. One of the 14 non-grafted defects and 3 of 13 grafted defects were judged to show soft tissue clinical closure by a panel of 3 independent examiners. No statistically significant differences were observed between defects treated with or without bone grafts.

Bone Transplantation↗
PubMed1993

Surgical treatment of intrabony periodontal defects using expanded polytetrafluoroethylene barrier membranes: influence of defect configuration on healing response.

Twenty-six proximal, intrabony periodontal defects with probing depths equal to or exceeding 6 mm in 23 patients were treated with gingival flap surgery supported by an expanded polytetrafluoroethylene barrier membrane. The material included 1, 2, and 3-wall defects with crestal involvement relative to the root circumference ranging between 90 degrees and 270 degrees. Healing was evaluated clinically 12 months after surgery. Deep defects exhibited greater probing depth reduction and attachment gain than shallower defects. Probing depth reduction, attachment gain, and bone fill were positively correlated to the depth of the 3-wall intrabony component of the defect. The extent of crestal involvement, and wall form in the fundus of the defect did not appear to influence the healing response. The treatment also affected the proximal surface of the defect-adjacent tooth, which showed some reduction in bone level as well as gingival recession. Thus, the overall healing pattern following barrier membrane-supported flap surgery appears similar to that generally observed for conventional reconstructive flap surgery in intrabony periodontal defects.

Adult↗
PubMed1999

Bone regeneration by recombinant human bone morphogenetic protein-2 in rat mandibular defects. An experimental model of defect filling.

BACKGROUND: Bone defects and irregularities are major problems for dental implant and periodontal therapies. METHODS: We investigated whether the application of recombinant human bone morphogenetic protein-2 (rhBMP-2) induces bone formation in through-and-through bone defects in the rat mandible. A round through-and-through bone defect (5 mm in diameter) was created in the angle of the mandible on both sides of the jaw using a steel round bur in each of 8 Long-Evans rats. In the experimental group, polylactic acid-polyglycolic acid copolymer/gelatin sponge (PGS) containing rhBMP-2 (6 microg/60 microl) was inserted in the bone defect. In the control group, the same carrier without rhBMP-2 was applied in the bone defect on the opposite side. Four weeks after application, the rats were sacrificed. Step serial sections stained with hematoxylin and eosin at intervals of 200 microm were prepared in a bucco-lingual direction. The size of the bone defects and new bone formation were evaluated histometrically. RESULTS: In all cases in the experimental group, a large quantity of newly formed bone was observed. The bone defects were completely filled with new bone in 4 of 8 rats in the experimental group. In the control group, small amounts of new bone formation were observed along the border of the original mandibular bone. Histometrical analysis revealed that the amount of new bone was significantly larger in the rhBMP-2 treated sites than in the control sites (P <0.0001; paired t-test). CONCLUSIONS: These results indicate that the rhBMP-2/PGS system induced effective bone regeneration on mandibular defects in rats. This procedure may be suitable as an experimental model for bone regeneration using various growth factors and effective for alveolar ridge augmentation followed by dental implant surgery.

Animals↗
PubMedDate not supplied

Cavitation defects on the lingual ramus: a further expression of Stafne's defect.

Seven archaeological examples of 6,700 mandibles examined were found to have developmental cortical defects on the ramus. The defects, unusual in their position, were grossly and radiographically similar to developmental bone cavities (Stafne's) located in the sublingual region. Of the seven ramus defects, all of which were in adult males, six were in Alaskan Eskimos from Kodiak Island (N = 5) and Nelson Island (N = 1), and one was in a native American from Arkansas. Only five adult males from Finland have been reported with similar defects. A statistical examination of the metrics defining mandibular cavitation defects, along with prevalence data, suggest that the seemingly rare findings of ramus defects are an extreme manifestation of the continuum of severity of the Stafne's defect. Bilateral Stafne's defects also represent a severe manifestation.

Adult↗
PubMed2004

[Value of osteo-chondral paste autologous transplantation in experimental cartilage defects reconstruction. Part IV--Microscopic analysis of cellularity and of traits of necrosis in the defect-filling tissue].

INTRODUCTION: Restricted potential of cartilage to regeneration following trauma induced search for new techniques of articular cartilage repair. Present study aimed at defining in experimental conditions of autologous osteochondral paste value by evaluation of cellularity and presence of necrosis in the defect-filling tissue. MATERIAL AND METHODS: Full thickness defect (IV(o)--ICRS scale) on distal rabbit femur joint surface was made. Three groups were specified: A--defect with paste graft (cartilage and contiguous bone collected from joint surface, crushed into homogenous paste; B--defect with the paste graft covered with periosteum; C--defect left unfilled. The follow-up periods were established at 4, 8, 12 weeks. Repair tissue was evaluated microscopically according to modified O'Driscoll scale. RESULTS: In evaluation of cellularity in the developed repair tissue, in long-term observations best results were obtained in the group of osteochondral paste (A) and in the group of unfilled defect (C). Following 12 weeks of observation cellularity of the repair tissue in the groups amounted to around 95%, as compared to the surrounding healthy cartilage. In evaluation of necrotic traits in the newly developed tissue, their highest intensity after 4 weeks of observation was noted in the group with periosteum covered osteochondral paste (B), and lower but still significant in the group in which paste alone was applied (A). This resulted from massive dying out of the grafted bone elements, and in the case of group B, also of the periosteal cells in the covering flap and of certain number of chondrocytes composing the graft. The trait was more objectively evaluated in long-term observations, when necrotic foci involved only elements of the proper repair tissue. After 12 weeks of observation degenerative changes showed the least pronounced intensity in the group with the paste alone (A). Following 4 weeks the intensity was least pronounced in the group with the unfilled defect (C), i.a. due to the absence of graft with the decomposing bone elements. However, with elapsing time degenerative lesions intensified in the group, pointing to the low stability of the developed tissue. The results indicated that application of the osteochondral paste in treatment of cartilage defects yields a stable, highly cellular tissue, resistant to time and trauma.

Animals↗
PubMed2006

Transcatheter closure of perimembranous ventricular septal defects using amplatzer asymmetric ventricular septal defect occluder: preliminary experience with 18-month follow up.

BACKGROUND: This study reports our experience in the nonsurgical closure of perimembranous ventricular septal defects in children and adolescents with the Amplatzer asymmetric ventricular septal defect occluder and the outcome of an 18-month follow up. METHODS AND RESULTS: Twenty patients (median age:10 years; median weight:32 kg) with perimembranous ventricular septal defect were selected for transcatheter closure with the Amplatzer device. The prosthesis diameter chosen was 1-2 mm larger than the largest measured diameter of the defect on transesophageal echo (TEE). All patients were put on oral aspirin (5 mg/kg/day in children and 150 mg/day in adults) five days prior to and for six months after closure. Follow-up evaluation at 48 hr and 1, 6, 12 and 18 months included clinical examination, electrocardiogram, and a transthoracic echocardiogram. The mean defect diameter on color flow mapping on TEE was 7.1 +/- 2.3 mm. The device diameter ranged from 6-14 mm (median = 8 mm). One patient developed an anaphylactic reaction to contrast. The procedure was successful in 17 out of 19 patients where it was attempted (89.4%). In two patients with associated significant aortic valve prolapse and mild aortic regurgitation the device could not be successfully deployed. A trivial residual shunt observed during postdeployment left ventricular angiogram in 7 of 17 patients (41.2%) completely disappeared at one month follow-up. Three patients had right bundle branch block (2 complete and 1 incomplete) whereas one developed junctional escape rhythm with a right bundle branch block morphology. One patient had clinically silent thromboembolism to the left vertebral artery and another patient had hemolysis which resolved spontaneously within 48 hr. Follow-up at 13.5 +/- 5.3 months (range 1-18 months) revealed no residual shunt. The left ventricular internal dimension in diastole decreased significantly from 45 +/- 6 mm to 40 +/- 6 mm (P < 0.01) at the time of the last follow up. The baseline tricuspid regurgitation (n = 4) and aortic regurgitation (n = 3) remained unchanged during the follow up period. None of the patients developed left ventricular outflow tract obstruction or new aortic or tricuspid regurgitation. There were no other device related complications such as device migration, systemic thromboembolism, infective endocarditis, pericardial effusion or delayed conduction disturbances. CONCLUSIONS: In carefully selected children and young adults, the Amplatzer asymmetric ventricular septal defect occluder is a promising device for transcatheter closure of perimembranous ventricular septal defect with encouraging results on short term follow up.

Adolescent↗
PubMed1998

Sternal defects associated with congenital pericardial and cardiac defects.

We describe three cases of sternal defects of varying severity associated with other congenital anomalies. In the most severe case, both anterior and posterior defects were seen, with near-absence of the sternum and pericardium continuous with a large omphalocele. This resulted in external location of organs usually confined within the thoracic and abdominal cavities. A ventricular septal defect was present, and the arterial duct was absent. The course of the ascending aorta was anomalous. The baby had anencephaly and rachischisis. In the intermediate case, a proximal sternal cleft was associated with shortening of the sternum, and absence of the manubrium. Anterior pericardial and diaphragmatic defects were seen, while a scalp defect and an encephalocele were present on the posterior aspect of the head. This baby had tricuspid atresia. The remaining case had only an anterior defect with a shortened sternum. A supra-umbilical omphalocele contained a left ventricular diverticulum without interposing pericardium or diaphragm. Ventricular and atrial septal defects were present. The first two cases can be considered as representing failure of development of both an anterior and a posterior midline field. The third case, much milder than the other two, represents failure of development of an anterior field.

Abnormalities, Multiple↗
PubMed1996

Transcatheter closure of secundum atrial septal defects with the atrial septal defect occlusion system (ASDOS): initial experience in children.

OBJECTIVE: To report initial experiences with transcatheter occlusion of atrial septal defects using a new occlusion device. SUBJECTS: 10 children aged 1.1 to 14.9 years. INCLUSION CRITERIA: Patients with a body weight above 10 kg, normal pulmonary resistance and an indication for surgical closure of a secundum atrial septal defect, a residual tissue rim of interatrial septum surrounding the defect of more than 5 mm, and a maximum defect diameter of 20 mm. METHODS: The defects were closed by a transcatheter device (ASDOS) consisting of two umbrellas which are introduced over a guidewire loop. Both umbrellas consist of a central body and five arms formed from preshaped nitinol wire covered with a thin polyurethane patch. The central body of the distal umbrella contains a thread, the proximal umbrella contains a bolt. The two umbrellas are connected by screwing the bolt on the thread using a screwdriver catheter. RESULTS: The implantation was performed under echocardiographic guidance; in six of 10 patients, transoesophageal echocardiography was necessary. The "stretched" diameter of the defect evaluated during balloon sizing ranged from 10 to 20 mm, and the pulmonary to systemic blood flow ratio from 1.5:1 to 2.8:1. Transcatheter closure was successfully performed in 9/10 patients using devices with a diameter of 25 mm to 40 mm. No severe complications occurred. However, in one patient with a pre-existing prolonged PR interval brief periods of second and third degree atrioventricular block occurred after the implantation but normalised within 3 d. During a follow up period of 21 to 29 weeks no device embolisation, thromboembolic complications, fractures of the implanted device, atrial perforations, pericardial effusions, obstructions of systemic or pulmonary veins, atrioventricular valve dysfunction, or other complications occurred. CONCLUSIONS: The new device is a promising transcatheter approach for the occlusion of secundum atrial septal defects in children. However, further evaluation and long term data are needed before this transcatheter technique can be recommended.

Adolescent↗
PubMed2005

Transcatheter closure of atrial septal defect (secundum type): the role of echocardiography in evaluating interatrial defects.

Atrial septal defects are among the most common congenital heart defects seen in the adult population. The diagnosis is usually made in children and closure is attempted before they are school age. In other cases, where the diagnosis is missed until adulthood, atrial arrhythmias and congestive heart failure are commonly seen. We report the case of an atrial septal defect (secundum type), which was diagnosed in a 72-year-old woman with paroxysmal atrial fibrillation. She also had a history of hypertension and hyperlipidemia. Transthoracic and transesophageal findings were consistent with right-sided volume overload and an atrial septal defect of approximately 1 cm in size. This was corroborated by the findings on cardiac catheterization with a shunt ratio of 1.8. The pulmonary artery pressures were within normal limits. The patient was referred for closure of the atrial septal defect. Presently, the options for septal defect closure are direct suture repair, Dacron patch repair depending on the size of the defect, and percutaneous transcatheter closure. Transcatheter closure is also available in treating selected patients with patent foramen ovale.

Aged↗
PubMed1998

Familial atrial septal defect with atrioventricular conduction defects.

Atrial septal defect of the ostium secundum type is almost always sporadic, with multifactorial inheritance. We report a case of a family in which atrial septal defects of the ostium secundum type with atrioventricular conduction defects were observed in four generations: five proven cases and two probable cases. Ten families have been reported as showing atrial septal defect of the ostium secundum type and atrioventricular conduction defects with dominant inheritance. Moreover, in our family the transmission model can also confirm autosomal dominant inheritance. We believe that cardiologists should take a familial approach to atrial septal defect of the ostium secundum type for both research and genetic counseling purposes. In a patient with ASD II, the AV conduction defects should prompt a detailed family history and clinical evaluation of first-degree relatives.

Adult↗
PubMed1998

Structure analysis of defects in nanometer space inside a crystal: creation and agglomeration of point defects in Si and Ge revealed by high-resolution electron microscopy.

Recent structural studies of point-defect-agglomerates in Si and Ge by high-resolution transmission electron microscopy (HRTEM) are compiled along with some new results. After examining the wave nature of incident electrons on defect formation during HRTEM observation and the correlated recombination of point defects under electron irradiation, we show that HRTEM is the unique means to analyze the atomic structure of small agglomerates of point defects, nanometer in size, inside a crystal. Emphasis is placed on the extension of studies made possible only by the elaborate and crucial structure determination by HRTEM: the mechanism of agglomeration at the atomic level, the extraction of novel unit structures of point defects, and the electronic structure of the agglomerate. Some examples on the subjects are demonstrated in cases of the [113] and [001] defects. The effect of specimen surfaces on structure determination is also discussed. Finally, a development of TEM technique with in-situ optical spectroscopy is described, which is utilized to pursue interaction of point defects under electron irradiation and thus may reinforce HRTEM experiments.

Crystallization↗
PubMed2005

Is urorectal septum malformation sequence a variant of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association? Report of a case and a review of the literature.

UNLABELLED: The urorectal septum malformation sequence (URSMS) consists of multiple systems anomalies including ambiguous genitalia, the absence of a perineal opening, an imperforate anus, and urogenital, colonic and lumbosacral anomalies. We describe a 3-day-old female infant with characteristic URSMS and review its clinical manifestations, outcomes and putative pathogenesis. We also compare its characteristics with those of the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia (VATER) association. CONCLUSION: Although defects of the urorectal septum malformation sequence and the vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association overlap, we believe that they are separate entities. Differentiating the urorectal septum malformation sequence from vertebral defects, anal atresia, tracheo-oesophageal fistula, renal defects and radial dysplasia association is helpful to develop appropriate clinical investigations and search for the aetiology and pathogenesis of these diseases.

Abnormalities, Multiple↗
PubMed1986

Defects in protein modification precede developmental defects in l(3)c21RRW630, a temperature-sensitive Drosophila developmental mutant.

The temperature-sensitive Drosophila developmental mutation, l(3)c21RRW630 (abbreviated RW630) disturbs oogenesis and has a maternal effect on embryogenesis. At restrictive temperature, RW630 alters post-translational modification of three abundant proteins. To examine the causal relationship between these biochemical defects and the developmental defects in RW630, a series of temperature-shift experiments was performed. It was found that defects in protein modification could be detected in RW630 ovaries after RW630 females had been exposed to restrictive temperature for 1 day. RW630 females treated in this fashion produce embryos which contain a low level of unmodified proteins. Nevertheless, these embryos hatch at a normal rate. Since these ovaries and these embryos are developmentally normal, but do show defects in protein modification, it is unlikely that the RW630 developmental defects cause the biochemical defects in RW630. It is more likely that accumulation of unmodified proteins after extended exposure to restrictive temperature produces the developmental defects in RW630.

Animals↗