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PubMed2001

Survival and reproduction among males with birth defects and risk of recurrence in their children.

CONTEXT: Few systematic data exist on survival and reproduction among males with birth defects and their contribution to occurrence of birth defects in the next generation. OBJECTIVE: To estimate survival of males with registered birth defects, their subsequent reproduction rates, and their risk of transmitting birth defects to their offspring. DESIGN AND SETTING: Population-based cohort study of data from the Medical Birth Registry of Norway. SUBJECTS: A total of 486 207 males born in Norway between 1967 and 1982, 12 292 of whom had a recorded birth defect. MAIN OUTCOME MEASURES: Survival rates through 1992, reproduction rates through 1998, and risk of birth defects among offspring of males with vs without birth defects. RESULTS: Survival through 1992 was lower among males with birth defects (84% vs 97%). Compared with males without birth defects, affected males were 28% less likely to have had a child. Among offspring of affected males, 5.1% had a registered birth defect compared with 2.1% of offspring of males without birth defects (relative risk [RR], 2.4; 95% confidence interval [CI], 1.9-3.0). Offspring of affected fathers had an increased risk of the same defect as their fathers (RR, 6.5; 95% CI, 4.0-10.4) and an increased risk of dissimilar defects (RR, 1.8; 95% CI, 1.3-2.5). CONCLUSIONS: Compared with unaffected males, males with birth defects have higher mortality and survivors are less likely to have a child. Fathers with birth defects are significantly more likely than unaffected fathers to have an affected child.

Adolescent↗
PubMedDate not supplied

Combined analysis of resting regional wall thickening and stress perfusion with electrocardiographic-gated technetium 99m-labeled sestamibi single-photon emission computed tomography: prediction of stress defect reversibility.

BACKGROUND: The high photon flux and stable distribution of the myocardial perfusion agent 99mTc-labeled sestamibi allow the perfusion data to be acquired in an electrocardiographic (ECG)-gated mode, such that information on resting regional wall thickening may be obtained simultaneously with stress perfusion data. The objective of this study was to assess whether visual analysis of resting regional wall thickening provided by ECG-gated acquisition of 99mTc-labeled sestamibi stress perfusion images correlates with and predicts the reversibility of stress-induced perfusion defects, potentially obviating the need for rest imaging. METHODS AND RESULTS: Fifty-nine patients referred for myocardial perfusion imaging were studied with rest and stress single-photon emission computed tomographic (SPECT) sestamibi imaging, and the stress perfusion data were acquired in an ECG-gated mode. Visual analysis of the presence and reversibility of stress perfusion defects on standard imaging was correlated with the wall thickening data from the poststress gated SPECT images. Quantitative circumferential profile analysis of the short-axis images was performed to assess the influence of relative stress perfusion defect severity on the correlation between wall thickening and defect reversibility. Among the 72 segments with stress-induced perfusion defects and visually apparent wall thickening on ECG-gated SPECT images, 69 were reversible on rest imaging (positive predictive value of 96% for wall thickening to predict stress defect reversibility). Of the 35 segments with stress-induced defects and no apparent wall thickening on ECG-gated SPECT images, however, 14 (40%) demonstrated significant stress defect reversibility on rest imaging. This result represents a negative predictive value of only 60% for the lack of apparent wall thickening to predict correctly an irreversible stress defect. Among the segments with reversible stress perfusion defects and visually apparent wall thickening, relative stress sestamibi activity was higher (51% +/- 10% [percentage of peak]) than in segments with reversible stress defects and no visually apparent wall thickening (39% +/- 4% of peak activity [p < 0.0001]). CONCLUSIONS: Visual evidence of wall thickening by poststress ECG-gated SPECT sestamibi imaging in the territory of a stress-induced perfusion defect correlates highly with stress defect reversibility on rest imaging and may obviate the need to perform rest imaging, thereby potentially reducing the time and cost involved in myocardial perfusion imaging. The absence of visually apparent wall thickening, however, underestimates the prevalence of stress defect reversibility on rest imaging; in such instances, rest imaging must be performed to differentiate ischemia from infarction in the territory of a stress perfusion defect.

Adult↗
PubMedDate not supplied

A population-based study of birth defects in Malaysia.

Birth defects are one of the leading causes of paediatric disability and mortality in developed and developing countries. Data on birth defects from population-based studies originating from developing countries are lacking. One of the objectives of this study was to determine the epidemiology of major birth defects in births during the perinatal period in Kinta district, Perak, Malaysia over a 14-month period, using a population-based birth defect register. There were 253 babies with major birth defects in 17,720 births, giving an incidence of 14.3/1000 births, a birth prevalence of 1 in 70. There were 80 babies with multiple birth defects and 173 with isolated birth defects. The exact syndromic diagnosis of the babies with multiple birth defects could not be identified in 18 (22.5%) babies. The main organ systems involved in the isolated birth defects were cardiovascular (13.8%), cleft lip and palate (11.9%), clubfeet (9.1%), central nervous system (CNS) (including neural tube defects) (7.9%), musculoskeletal (5.5%) and gastrointestinal systems (4.7%), and hydrops fetalis (4.3%). The babies with major birth defects were associated with lower birth weights, premature deliveries, higher Caesarean section rates, prolonged hospitalization and increased specialist care. Among the cohort of babies with major birth defects, the mortality rate was 25.2% during the perinatal period. Mothers with affected babies were associated with advanced maternal age, birth defects themselves or their relatives but not in their other offspring, and significantly higher rates of previous abortions. The consanguinity rate of 2.4% was twice that of the control population. It is concluded that a birth defects register is needed to monitor these developments and future interventional trials are needed to reduce birth defects in Malaysia.

Case-Control Studies↗
PubMed1999

Multivitamin supplementation and risk of birth defects.

It is widely accepted that supplementation with folic acid, a B vitamin, reduces the risk of neural tube defects (NTDs). This case-control study tested the hypothesis that multivitamins reduce risks of selected birth defects other than NTDs. Infants with and without birth defects and aborted fetuses with birth defects were ascertained in the greater metropolitan areas of Boston, Philadelphia, and Toronto during 1993-1996. Mothers were interviewed within 6 months after delivery about a variety of factors, including details on vitamin use. Eight case groups were included: cleft lip with or without cleft palate, cleft palate only, conotruncal defects, ventricular septal defects, urinary tract defects, limb reduction defects, congenital hydrocephaly, and pyloric stenosis (n's ranged from 31 to 186). Controls were 521 infants without birth defects (nonmalformed controls) and 442 infants with defects other than those of the cases (malformed controls). Daily multivitamin supplementation was evaluated according to gestational timing categories, including periconceptional use (28 days before through 28 days after the last menstrual period). Odds ratios (ORs) below 1.0 were observed for all case groups except cardiac defects, regardless of control type. For periconceptional use, ORs with 95% confidence intervals that excluded 1.0 were estimated for limb reduction defects using both nonmalformed controls (OR = 0.3) and malformed controls (OR = 0.2) and for urinary tract defects using both nonmalformed controls (OR = 0.6) and malformed controls (OR = 0.5). Statistically significant ORs for use that began after the periconceptional period were observed for cleft palate only and urinary tract defects. These data support the hypothesis that periconceptional vitamin supplementation may extend benefits beyond a reduction in NTD risk. However, other than folic acid's protecting against NTDs, it is not clear what nutrient or combination of nutrients might affect risk of other specific defects.

Adult↗
PubMed2001

Repair of a critical size defect in the rat mandible using allogenic type I collagen.

Mandibular fractures, resulting from either trauma or reconstructive surgery, can be challenging craniofacial problems. The morbidity of failed fracture healing is significant and may require bone grafting. Donor site morbidity and finite amounts of autogenous bone are major drawbacks of autogenous bone grafting. Similarly, the use of allografts and xenografts may be associated with an increased risk of rejection, infection, and nonunion. To circumvent the limitations of bone grafting, research efforts have focused on formulating a suitable bone substitute. The purpose of our study was to evaluate the efficacy of type I collagen implants in repairing critical sized mandibular defects in rats. Twelve male Sprague-Dawley rats (200-300g) were divided equally into control and experimental groups. Full thickness, round, four millimeter in diameter defects were created in the ramus of the right mandible of all rats using an electrical burr at low speed. The defects were irrigated of all bone chips, and either filled with a precisely fitted disk of allogenic collagen type I gel (experimental animals) or left empty (control animals). Animals were killed 6 weeks after surgery and healing of the bone defects was assessed in a blinded fashion using radiologic and histologic analysis. Radiologic analysis of the control group revealed a clear circular right mandibular defect in all animals, whereas the collagen disk implant group revealed an indistinct to nonexistent right mandibular defect in all animals. Densitometric analysis revealed a significant difference between these groups (* P = 0.01). Similarly, gross analysis of control mandibles revealed a 4mm round, soft-tissue filled defect, while implanted defects demonstrated gross bone spanning the defect. Finally, histologic analysis of all control mandibles revealed clearly demarcated bony edges at the defect border with connective tissue spanning the defect. In contrast, histological analysis of all implanted mandibles revealed indistinct bony edges at the defect border with a thin layer of osteoblasts and viable bone spanning the defects. We have demonstrated the ability of type I collagen to promote healing of a membranous bony defect that would not otherwise heal at 6 weeks. The suitability of type I collagen as a carrier matrix provides ample opportunity for tissue-engineered approaches to further facilitate bony defect healing. Promoting bone formation through tissue engineering matrices offers great promise for skeletal healing and reconstruction.

Absorptiometry, Photon↗
PubMed2002

Bone and suture regeneration in calvarial defects by e-PTFE-membranes and demineralized bone matrix and the impact on calvarial growth: an experimental study in the rat.

The aim of this study was to evaluate the effect of: guided tissue regeneration (GTR) alone, implantation of demineralized bone matrix (DBM) alone, and of the combined treatment on the healing of craniectomy defects involving the sagittal cranial suture, and to examine subsequent calvarial growth. Sixty four-week-old rats were used in the study. These animals were randomly assigned to five groups (A-E) of 12 animals. In four groups (A-D), a calvarial defect (5.0 mm) involving the sagittal suture was produced in each animal. Group A: The defect was left untreated. Group B: DBM was implanted into the defect. Group C: The cerebral and the galeal aspect of the defect was covered with an e-PTFE membrane. Group D: The defect was treated with the double membrane technique combined with implantation of DBM. Group E: The animals were sham-operated, no defect was created. In all groups, two gutta-percha points were placed to indicate the lateral borders of the parietal bones. Histological analysis 4 months following surgery showed that the untreated cranial defects (A) had healed with fibrous connective tissue in the midportion of the defect. The DBM grafted defects (B) healed either completely with bone containing DBM particles or partially with bone and connective tissue. The defects (D) treated with DBM combined with GTR healed completely with bone, while the defects (C) treated with membranes alone healed with bone but a suture-like tissue similar to the normal sagittal suture of the sham-operated controls (E) was always present in the midportion of the defect. Cephalometric radiography demonstrated that the membrane-treated (C) and the sham-operated animals (E) exhibited similar coronal growth of the cranial vault following treatment. Craniometric measurements on chemically defleshed specimens showed that sham-operated and membrane-treated animals presented significantly more biparietal width than the animals treated with DBM alone or DBM combined with GTR (P < 0.05). The results demonstrated that predictable osseous healing including the formation of a sagittal suture can be accomplished in craniectomy defects by GTR, and undisturbed cranial growth reestablished. The treatment of the defects with DBM alone or DBM combined with GTR resulted in craniosynostosis and reduced cranial growth.

Analysis of Variance↗
PubMed2000

Osteogenesis in cranial defects: reassessment of the concept of critical size and the expression of TGF-beta isoforms.

Transforming growth factor-betas (TGF-beta) have been demontstrated to be upregulated during osteoblast function in vitro and during cranial suture fusion in vivo. The authors hypothesized that spontaneous reossification of calvarial defects was also associated with upregulation of TGF-beta. The present study was designed to (1) evaluate the concept of a critical-size defect within the calvaria in an adult guinea pig model and (2) investigate the association between the ossification of calvarial defects and TGF-beta upregulation. Paired circular parietal defects with diameters of 3 and 5 mm and single parietal defects with diameters of 8 or 12 mm were made in 45 six-month-old skeletally mature guinea pigs. Three animals per defect size were killed after survival periods of 3 days, 1 week, 4 weeks, 8 weeks, or 12 weeks. New bone ingrowth was evaluated by assessing for linear closure by a traditional linear method and by a modified cross-sectional area method using an image analysis system in which the thickness of new bone was taken into account. Immunohistochemistry was performed using rabbit polyclonal antibodies to localize TGF-beta1, -beta2, and -beta3. All specimens were photographed, and the intensity of immunostaining was graded based on subjective photographic assessment by three independent reviewers. No defect demonstrated any measurable bone replacement after a survival period of 3 days. All 3- and 5-mm defects were completely reossified after 12 weeks based on the linear analysis of new bone, indicating these defects to be less than critical size. However, new bone formation in the 5-mm defects never exceeded a mean of 40 percent by cross-sectional area of new bone. Percent of new bone formation by cross-sectional area was significantly higher within 3-mm defects than in all larger defects 4 weeks after the craniotomy, reaching a mean of 89 percent new bone by 12 weeks. Persistent gaps were noted on linear analysis of the 8- and 12-mm wounds by 12 weeks, and mean percent new bone by cross-sectional area remained below 30 percent. Immunolocalization demonstrated osteogenic fronts at the advancing bone edge and the endocranial side, in which the osteoblasts stained strongly for all isoforms of TGF-beta. The intensity of osteoblast expression waned considerably after the majority of the defect had reossified. These data indicate that histometric analysis based on cross-sectional area more accurately reflects the osteogenic potential of a cranial defect than does linear inspection of defect closure. Although the interpretation of immunolocalization studies is highly subjective, independent assessment by three reviewers indicates that isoforms of TGF-beta were upregulated during a limited "window" of time corresponding to the period of active calvarial reossification, and expression of TGF-beta corresponded to osteoblast activity within osteogenic fronts.

Animals↗
PubMed2002

A classification system and reconstructive algorithm for acquired vaginal defects.

Although multiple flaps have been used for vaginal reconstruction, a logical approach to reconstruction of these often complex defects has not been described. The objective of this study was to establish a classification system for acquired vaginal defects and to develop a reconstructive algorithm derived from this system. This study is a retrospective review of a 7-year experience with 51 flaps in 37 consecutive vaginal reconstructions. Twenty-two partial defects and 15 circumferential defects were reconstructed in 35 patients. Average patient age was 48 years (range, 19 to 69 years). Of the 22 patients with partial vaginal defects, six involved primarily the anterior and lateral wall and 16 the posterior vaginal wall. Among the 15 patients with circumferential defects, four included only the upper two-thirds of the vagina and 11 encompassed the entire vagina. On the basis of these defects, a classification system was developed. Partial defects involving the anterior or lateral vaginal wall were classified as type IA defects and were reconstructed primarily with pedicled Singapore fasciocutaneous flaps. Partial defects involving the posterior wall were classified as type IB and were reconstructed with pedicled rectus abdominis myocutaneous flaps. Circumferential defects involving the upper two-thirds of the vagina were classified as type IIA defects and were reconstructed with a rolled rectus flap or, less commonly, sigmoid colon (one patient). Total circumferential defects, type IIB, were reconstructed largely with bilateral gracilis flaps. Six patients had major complications, including one perioperative death, one complete flap loss, one partial flap loss, and three pelvic abscesses. Three patients had minor complications that included delayed wound healing and donor-site infection. Vaginal defects can be categorized into one of four types on the basis of the location and extent of resection. Flap selection is determined on the basis of the type of defect. Using this algorithm, immediate vaginal reconstruction with pedicled regional flaps can be performed with minimal patient morbidity and few surgical complications.

Adenocarcinoma↗
PubMed2006

Closure of rabbit calvarial critical-sized defects using protective composite allogeneic and alloplastic bone substitutes.

This study evaluated the repair of critical-sized cranial vault defects in thirty New Zealand white rabbits using various allogeneic and alloplastic bone substitutes designed to provide mechanical protection to the brain as well as osteoinductivity. The strategies employed included demineralized bone matrix (DBM), a putty used in combination with a rigid resorbable plating system as a protective covering and calcium phosphate cement (CPC) combined with native partially purified bone morphogenetic protein (BMP). Bilateral critical-sized defects measuring 15 mm in diameter were created in the parietal bones of 30 adult male New Zealand white rabbits. They were divided into three groups with ten animals in each. Group 1 had one defect left unfilled as a control while autogenous bone was placed in the defect on the other side. In Group 2 a rigid resorbable copolymer membrane, Lactosorb (Lorenz Surgical, Jacksonville, Florida), was placed over both defects to cover them and protect the underlying tissues. The pericranial aspect of one defect was left unfilled while the other defect was filled with DBM putty. Group 3 had a CPC, Mimix (Lorenz Surgical, Jacksonville, Florida), placed into one of the defects while the defect on the other side was filled with the same CPC in combination with BMP in a concentration of 25 mg/mL. Bone healing was assessed clinically, radiographically, and histomorphometrically. All unfilled controlled defects, the defects covered with the resorbable Lactosorb membrane and those filled with calcium phosphate cement alone, healed with a fibrous scar. Defects reconstructed with DBM putty in combination with the resorbable Lactosorb membrane and calcium phosphate in combination with BMP healed with bone bridging the entire defect. This was obvious radiographically where the defects appeared completely filled with a dense radiopaque tissue. Histological analysis demonstrated that specimens where DBM putty was used in combination with the resorbable Lactosorb membrane had 67.7% new bone fill at 6 weeks and 84.0% at 12 weeks. Resorption of DBM particles was evidenced by the presence of osteoclastic activity and by the significant decrease in the size of the demineralized bone particles. In the calcium phosphate groups where BMP was added to the bioimplant there was 45.8% new bone formation at 12 weeks. The utilization of a composite consisting of DBM with resorbable Lactosorb membrane or a composite of calcium phosphate cement composite with BMP promoted complete closure of critical-sized calvarial defects in New Zealand white rabbits with viable new bone at 12 weeks. The complete bone bridging observed with these composites suggests that they could be used to enhance the protection of intracranial contents following craniofacial surgical procedures.

Animals↗
PubMed1990

Detection of articular defects using magnetic resonance imaging: an experimental study.

This study evaluates magnetic resonance imaging (MRI) in the detection of surgically created articular defects in bovine knees. A total of 26 articular defects was created in 2 fresh cadaveric cows' knees. The defects created include chondromalacic grade 2 defects, chondral and osteochondral defects from 3 to 15 mm in diameter. The knee joints were repaired in a normal saline bath to exclude air in the joint prior to MR scanning. T1 weighted spin echo (SE) images and 3D gradient echo (FISP 40 degrees 3D) images were obtained. The T1 weighted SE imaging technique detected 15 defects (57.7%) compared with FISP 3D imaging technique detection of 17 defects (65.4%). The two techniques combined enable 21 of 26 defects (80.8%) to be detected. The imaging techniques used in this study were not able to detect chondromalacic defects less than 10 mm in diameter, nor chondral defects less than 5 mm in diameter. However, small osteochondral defects of 3 mm in diameter are detectable provided the depth of the defect is not less than 10 mm. The FISP 3D imaging technique alone is more sensitive in detecting chondral defects. Both imaging techniques have similarly high sensitivities in detecting osteochondral defects. The imaging time for combined T1 weighted SE and FISP 3D sequence is short (16.5 mm) and this combined technique may be useful for MR scanning of knee joints suspected to have articular defects.

Animals↗
PubMed2000

Characteristics of triangular fibrocartilage defects in symptomatic and contralateral asymptomatic wrists.

PURPOSE: To characterize triangular fibrocartilage (TFC) defects in symptomatic and contralateral asymptomatic wrists. MATERIALS AND METHODS: Communicating and noncommunicating defects of the TFC were depicted on bilateral wrist arthrograms in 56 patients with unilateral wrist pain and without associated lesions of the scapholunate or lunotriquetral ligaments. The exact location of each TFC lesion was noted. RESULTS: Communicating defects were noted in 36 (64%) of 56 symptomatic and in 26 (46%) of 56 asymptomatic wrists. Twenty-five (69%) of 36 communicating defects were bilateral. Except for one defect in each group of symptomatic and asymptomatic wrists, all communicating defects were noted radially. Noncommunicating defects were noted in 28 (50%) of 56 symptomatic wrists and in 15 (27%) of 56 asymptomatic wrists. Eleven (39%) of 28 noncommunicating defects were bilateral. On the symptomatic side, 28 of 36 noncommunicating defects (including eight multiple defects) were located proximally at the ulnar side. On the asymptomatic side, 11 of 17 noncommunicating defects (including two multiple defects) were at or near the ulna. CONCLUSION: Noncommunicating TFC defects, which typically are located on the proximal side of the TFC near its ulnar attachment, have a more reliable association with symptomatic wrists than do communicating defects. Radial-sided communicating defects described in the literature (Palmer type 1A and 1D) as posttraumatic commonly are seen bilaterally and in asymptomatic wrists.

Adolescent↗
PubMed1995

Effect of recombinant human osteogenic protein-1 on healing of segmental defects in non-human primates.

The effect of recombinant human osteogenic protein-1 on the healing of segmental bone defects was studied in twenty-eight African green monkeys (Cercopithecus aethiops). A 2.0-centimeter osteoperiosteal defect was created in the middle of the ulnar shaft in fourteen animals and in the diaphysis of the tibia in the other fourteen. The ulnar defect was filled with an implant consisting of 1000 micrograms of recombinant human osteogenic protein-1 in 400 milligrams of bovine bone-collagen carrier in six animals, with collagen carrier alone in two animals, and with autogenous cancellous bone graft from the contralateral tibia and femur in six animals. The tibial defect was filled with 250, 500 (two tibiae), 1000, or 2000 micrograms of recombinant human osteogenic protein-1 in 400 milligrams of collagen carrier in five animals, with collagen carrier alone in one animal, and with autogenous cancellous bone graft in six animals; in the two remaining animals (controls), the tibial defect was left unfilled. The tibial defects were stabilized with an intramedullary Steinmann pin. All animals were killed at twenty weeks postoperatively. Healing of the defects was evaluated with biweekly radiographs, with histological examination, and with mechanical testing. Radiographically, all of the defects that had been treated with recombinant human osteogenic protein-1 exhibited new-bone formation, but they differed in the degree of healing and remodeling. Five of the six ulnae treated with recombinant human osteogenic protein-1 and four of the five tibiae treated with this substance exhibited complete healing at six to eight weeks, with bridging of the defect by new bone first observed at four weeks. The two unhealed defects both exhibited new-bone formation but incomplete union, which precluded mechanical testing. No defect that had been filled with collagen carrier or that had been left unfilled exhibited any signs of healing or major new-bone formation. None of the six ulnae that had been filled with autogenous bone graft exhibited complete healing, compared with five of the six tibiae that had been so treated. Histological evaluation of the defects treated with recombinant human osteogenic protein-1 revealed the formation of new cortices with areas of woven and lamellar bone and normal-appearing marrow elements at twenty weeks postoperatively. The tibial defects that had been treated with autogenous bone graft had a similar appearance. All control ulnar and tibial defects and all ulnar defects that had been treated with autogenous bone graft had fibrous union with little new-bone formation.(ABSTRACT TRUNCATED AT 400 WORDS)

Animals↗
PubMed2004

[Week of pregnancy in which birth defects were prenatally diagnosed in the Czech Republic in 1996-2002].

OBJECTIVE: To evaluate the week of pregnancy in which birth defects were prenatally identified and the week of pregnancy in which pregnancy was terminated due to these defects in the Czech Republic in the period from 1996 to 2002. As regards data on Down's Syndrome, comparison to the data from other countries. DESIGN: A retrospective study, which identifies the week of pregnancy when congenital defects are identified through invasive as well as non-invasive prenatal diagnostics and the week of pregnancy when the pregnancy is terminated because of these defects. METHODS: The data were obtained from individual medical genetics facilities. The data are stated for all defects prenatally diagnosed as well as for the defects, which are most frequently prenatally diagnosed - from among neural tube defects, anencephaly and spina bifida were covered; from among abdominal fissures, omphalocele and gastroschisis were covered. Out of inborn chromosomal aberrations, the most frequently diagnosed chromosomal aberration - Down's Syndrome - was covered. RESULTS: The average time of prenatal diagnostics of the birth defects was 19.48 week and the average time of termination of pregnancy due to these defects was 20.11 week. Anencephaly was diagnosed after 17.16 weeks and terminated after 17.84 weeks of the pregnancy on the average. Prenatal diagnostics of spina bifida was carried out after 19.25 weeks and terminated after 19.70 weeks. Omphalocele was identified after 17.55 weeks and terminated after 17.99 weeks. The second type of defect of abdominal wall - gastroschisis was identified after 17.93 weeks and terminated after 18.65 weeks. On the average, Down's Syndrome was diagnosed after 19.81 weeks and terminated after 20.43 weeks. It can be said about all the defects that during the monitored years there was a slight reduction of the period after which the defect was identified as well as of the period after which pregnancy was terminated. CONCLUSION: For all the presented selected birth defects as well as for the defects as a whole, it can be said that during the monitored years there was a slight reduction of the average period after which the defects were identified and as well as of the average period after which pregnancy was terminated.

Congenital Abnormalities↗
PubMed1991

Double-inlet single left ventricle: echocardiographic anatomy with emphasis on the morphology of the atrioventricular valves and ventricular septal defect.

The echocardiographic anatomy of double-inlet single left ventricle was studied in 57 patients, aged 1 day to 27 years (mean 6 years); the variables examined included morphology, size and function of the atrioventricular (AV) valves and ventricular septal defect and their relation to pulmonary stenosis, aortic stenosis and aortic arch obstruction. The visceroatrial situs was solitus and the heart was in the left side of the chest in all 57 patients. A d-loop ventricle was present in 21 patients and an l-loop ventricle in 36. The great arteries were normally related (Holmes heart) in 8 patients and transposed in 49. In all hearts, the right AV valve was anterior to the left AV valve. In 53 patients, the tricuspid valve (right valve in d-loop and left valve in l-loop) was closer to and had attachments on the septum. The tricuspid valve straddled the outflow chamber in eight patients. No significant difference was noted in the mean AV valve diameter when comparing mitral and tricuspid valves within the same group or between the groups with a d- or l-loop ventricle. The right AV valve diameter had a significant direct correlation with the aortic valve diameter and the size of the ventricular septal defect regardless of ventricular loop. Both AV valves were functionally normal in 34 patients. Among patients with AV valve dysfunction, the tricuspid valve tended to be stenotic in patients with an l-loop ventricle and regurgitant in patients with a d-loop ventricle. Mitral valve dysfunction was uncommon. The ventricular septal defect (46 patients) was separated from the semilunar valves in 24 patients (muscular defect) and adjacent to the anterior semilunar valve as a result of hypoplasia or malalignment, or both, of the infundibular septum (subaortic defect) in 19 patients. Multiple defects were present in three patients. The defect was unrestrictive in 26 patients, restrictive in 23 and could not be evaluated in 8. Pulmonary artery banding had been performed in 8 of the 26 patients with an unrestrictive defect and in 10 of the 23 patients with a restrictive defect. Only 4 of 19 subaortic defects compared with 16 of 24 muscular defects were restrictive. The size of the defect was significantly correlated with the measured pressure gradient. Among patients with transposition, only 2 of 13 with pulmonary stenosis had a restrictive ventricular septal defect compared with 15 of 30 without pulmonary stenosis. In patients with transposition, the defect size was significantly smaller when coarctation was present.

Child↗
PubMed2005

Normality of cardiopulmonary capacity in children operated on to correct congenital heart defects.

BACKGROUND: One of the main goals of corrective surgery of congenital heart defects in children is the improvement of quality of life, which in young children is predominantly determined by exercise capacity. It is not known whether this goal can be achieved in school-aged children who have undergone cardiac surgery in infancy. OBJECTIVES: To determine if primary school-aged children who underwent surgery to correct congenital heart defects in infancy are physically as fit as their peers. METHODS: We examined 84 children with congenital heart defects, aged 4 to 11 years, after surgical repair. Fifty-two children had simple defects (ie, atrial or ventricular septal defect, coarctation of the aorta). Thirty-two children had complex defects (ie, tetralogy of Fallot, pulmonary atresia with ventricular septal defect). All patients underwent exercise testing performed on a specially modified bicycle ergometer. Ninety-eight sex- and age-matched healthy children served as the control group. RESULTS: There was no gender difference, either in healthy children or in the group with congenital heart defects, regarding exercise testing and that the healthy children reached a mean +/- SD normalized maximal performance of 2.8 +/- 0.3 W/kg. The same range was found for the children who had undergone surgery to correct simple heart defects. The children operated on to correct complex heart defects showed significantly impaired mean normalized maximal performance, although this tended to be lower in the group that had pulmonary atresia with a ventricular septal defect than in the group with tetralogy of Fallot (mean normalized maximal performance, 1.9 W/kg vs 2.3 W/kg). CONCLUSIONS: The goal of normal exercise capacity in childhood after heart surgery is achieved in those with simple heart defects only. In children with complex heart defects impaired exercise performance persists, depending on the severity of the heart defect and probably on chronotropic incompetence.

Adaptation, Physiological↗
PubMed1991

Transoesophageal echocardiographic assessment of primum, secundum and sinus venosus atrial septal defects.

We compared the ability of transthoracic and transoesophageal echocardiography to determine the presence and site of an atrial septal defect and associated anomalous pulmonary venous connexions in 13 school age children (aged 5 to 15 years) and 12 adults (aged 25 to 68 years). Transthoracic echocardiography detected atrial septal defects in 12 children and 6 adults. Transoesophageal echocardiography confirmed the position of 16 (13 secundum, 3 primum) of these 18 defects but altered the diagnosis from a secundum defect to a sinus venosus defect in one and from a sinus venosus defect to a high secundum defect in another. In addition to these 18, transoesophageal echocardiography diagnosed a defect in 5 adults (3 secundum and 2 sinus venosus defects) and 1 child (secundum defect). In an adult with inconclusive transthoracic findings, transoesophageal echocardiography enabled clear visualisation of the atrial septum and excluded an atrial septal defect. Transoesophageal echocardiography showed anomalous attachment of a pulmonary vein into the region of a sinus venosus defect (n = 3) but did not show anomalous connexions to the superior caval vein (n = 3) or the inferior caval vein (n = 1). Transoesophageal echocardiography provides a reliable method of diagnosing or excluding an atrial septal defect in patients with inconclusive transthoracic findings and is of particular diagnostic value in sinus venosus defects.

Adolescent↗
PubMed1995

High prevalence of muscular ventricular septal defect in neonates.

OBJECTIVES: This study sought to use echocardiography to evaluate the prevalence of muscular ventricular septal defect in neonates. BACKGROUND: Ventricular septal defect is usually asymptomatic and closes spontaneously. An increase in its prevalence has been noted recently. One reason is the improved detection of small defects, especially with the increased used of echocardiography. Therefore, one would expect a higher prevalence in neonates on the basis of echocardiographic screening. METHODS: Color Doppler echocardiography was performed in 1,053 consecutive neonates 6 to 170 h old at Western Galilee Hospital, Israel. Data on the neonates, parents and family were obtained to analyze the influencing factors. The identified patients were followed up for 1 to 10 months or until ventricular septal defect closure. RESULTS: Muscular ventricular septal defect was found in 56 (25 male, 31 female) of the 1,053 neonates, a prevalence of 53.2/1,000 live births. All neonates were asymptomatic. Six had a systolic murmur. Electrocardiographic findings were normal in 44 (97.8%) of 45 neonates followed up, and left ventricular hypertrophy occurred in 1 (2.2%). By echocardiography, 50 ventricular septal defects (89.3%) were single and 6 (10.7%) were multiple. The defects (range 1 to 5 mm in diameter, mean [+/- SD] 2.3 +/- 0.8) occurred anywhere along the muscular septum; 43 (76.8%) were detectable only on color Doppler imaging. The left atrium and left ventricle were mildly dilated. Of 45 neonates who were followed up for 6 to 10 months or until closure of the defects, 40 (88.9%) had defects that closed spontaneously. The risk of ventricular septal defect was not significantly associated with gestational age, birth weight, birth order, maternal age, diabetes, smoking, exposure to drugs or infection, paternal age, familial congenital heart disease, religion or consanguinity. CONCLUSIONS: There is a prevalence of muscular ventricular septal defect in neonates of 53.2/1,000 live births. The patients were asymptomatic, and 88.9% had defects that closed spontaneously within 1 to 10 months. These defects may be caused by environmental factors. In many cases, muscular ventricular septal defect may also result from delayed physiologic development.

Echocardiography, Doppler, Color↗
PubMed2002

Evidence for healing of periodontal defects 5 years after conventional and regenerative therapy: digital subtraction and bone level measurements.

OBJECTIVE: The aim of the present study was to compare radiographic assessment of bony fill by digital subtraction analyses (DSA) after periodontal surgery of infrabony and furcation defects with bone level measurements. METHODS: For 19 patients with 19 infrabony lesions and 20 degree II furcation defects, five defects were treated conventionally and 34 defects were treated by regenerative periodontal surgery. At baseline and 60 +/- 3 months after surgery, clinical measurements (GI, PPD, PAL-V, PAL-H, PlI) and standardized radiographs were obtained. Furthermore, intrasurgically after reflection of a mucoperiosteal flap and 60 months after surgery after local anesthesia without flap reflection, the distance from the cementoenamel junction (CEJ) to bottom of the bony defect (BD) was measured vertically (PBL-V) and, in furcation defects, horizontally (PBL-H). Pre- and postsurgical radiographs were analyzed by digital subtraction. Bone level gain and DSA results were compared by simple regression analysis. RESULTS: Surgical treatment revealed significant PPD reduction (- 3.45 +/- 1.56 mm; P < 0.001), PAL-V gain (2.84 +/- 1.36 mm; P < 0.001), and PBL-V gain (1.68 +/- 1.20 mm; P < 0.001) in infrabony defects, as well as PPD reduction (- 1.68 +/- 1.73 mm; P = 0.001) and PAL-H gain [1.43 +/- 1.70 mm (P = 0.001)] in furcation defects after 5 years. A correlation could be found in furcation defects between PBL-H gain and DSA (R2 = 0.34, P = 0.003), whereas the study failed to demonstrate a consistent correlation between PBL-V and DSA in infrabony defects (R2 = 0.12, P = 0.149). CONCLUSIONS: DSA correlates significantly with PBL-H measurements in furcation defects. Thus, either method is a sufficient tool to evaluate bony fill within furcation defects. On the other hand, DSA did not correlate significantly with PBL-V measurements in infrabony defects. This discrepant contribution of DSA in the evaluation of these two types of defects may be explained by the fact that DSA primarily evaluates change in a buccolingual direction.

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