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At least 19 recordsLinked to original sources
PubMed2000

Platelets from a patient heterozygous for the defect of P2CYC receptors for ADP have a secretion defect despite normal thromboxane A2 production and normal granule stores: further evidence that some cases of platelet 'primary secretion defect' are heterozygous for a defect of P2CYC receptors.

Two unrelated patients with a congenital bleeding diathesis associated with a severe defect of the platelet ADP receptor coupled to adenylate cyclase (P2(CYC)) have been described so far. In one of them, platelet secretion was shown to be abnormal. We recently showed that platelets with the primary secretion defect (PSD; characterized by abnormal secretion but normal granule stores, thromboxane A(2) production, and ADP-induced primary wave of aggregation) have a moderate defect of P2(CYC). Therefore, the interaction of ADP with the full complement of its receptors seems to be essential for normal platelet secretion, and PSD patients may be heterozygotes for the congenital severe defect of P2(CYC). In this study, we describe 2 new related patients with a severe defect of P2(CYC) and the son of one of them, who is to be considered an obligate heterozygote for the defect. The 2 patients with the severe defect had lifelong histories of abnormal bleeding, prolonged bleeding times, abnormalities of platelet aggregation and secretion, lack of inhibition of adenylate cyclase by ADP, and a deficiency of platelet-binding sites for [(33)P]2 MeS-ADP (240 and 225 sites per platelet; normal range, 530 to 1102). The son of one of them had a mildly prolonged bleeding time and abnormalities of platelet aggregation and secretion similar to those found in patients with PSD. In addition, his platelets showed a moderate defect of binding sites for [(33)P]2 MeS-ADP (430 sites per platelet) and of adenylate cyclase inhibition by ADP. This study of a family with the platelet disorder characterized by a defect of the platelet P2(CYC) receptor supports our hypothesis that the full complement of the platelet ADP receptors is essential for normal platelet secretion and that some patients with the common, ill-defined diagnosis of PSD are actually heterozygous for the defect.

Adenosine Diphosphate↗
PubMed2000

Clinical and morphologic features of perimembranous ventricular septal defect with overriding of the aorta--the so-called Eisenmenger ventricular septal defect. A study making comparisons with tetralogy of Fallot and perimembranous ventricular defect without aortic overriding.

The aim of our study was to elucidate the clinical and morphologic features of those perimembranous ventricular septal defects which extend between the ventricular outlets, particularly when found in association with anterior deviation of the muscular outlet septum and overriding of the aorta--the so called Eisenmenger ventricular septal defect. From 1990 through 1998, we have undertaken surgical correction in 203 patients with perimembranous ventricular septal defect. Of these, 15 patients had the Eisenmenger ventricular septal defect. We conducted retrospective analyses of the clinical records, catheterization data, and angiocardiographic and echocardiographic finding of these patients. Comparative studies were then made with the patients having tetralogy of Fallot, and those with simple perimembranous ventricular septal defects without overriding of the aorta. In the patients with the Eisenmenger ventricular septal defect, the extent of anterior deviation of the outlet septum was comparable with that seen in tetralogy of Fallot, but there was less rightward displacement of the aortic valvar orifice. In contrast to earlier investigators, however, we found evidence of progressive narrowing of the subpulmonary infundibulum in those with the Eisenmenger defect. These morphological features were reflected in the clinical features, since all patients showed evidence of increased pulmonary flow and congestive heart failure in early infancy, but with two-thirds of them subsequently developing right-to-left shunting. We conclude, therefore, that the Eisenmenger ventricular septal defect is a discrete cardiac abnormality in which the morphologic substrate of anterior deviation of the outlet septum gives rise to a potential for progressive narrowing of the subpulmonary infundibulum. Surgical management, therefore, needs to take account of such narrowing as an additional cardinal morphologic feature.

Angiocardiography↗
PubMed2000

Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: comparative epidemiology.

The presence of body wall defects with "evisceration" of thoracic and/or abdominal organs associated with other congenital anomalies, with or without limb deficiencies, is considered to be the body wall complex (BWC). The BWC is different from gastroschisis, which is usually a small body wall defect lateral to the umbilical cord that is not covered by any membrane and, in most of the cases, is an isolated defect. For the present analysis we separated the BWC group into three subgroups. One group was that of body stalk anomalies characterized by severe defects of the abdominal wall with absence of, or very small, umbilical cord, or this is continuing with the placenta. The second group was made up of those infants with body wall defects without amniotic bands, and the third group was of those children with body wall defects produced by amniotic bands. We considered two additional groups in the analysis, one was of infants with gastroschisis and the other those infants with amniotic bands without body wall affectation. We also included the control group (nonmalformed infants) for comparisons. From the results of our epidemiological study, we can conclude that amniotic bands with body wall affectation and amniotic bands without body wall defects are two different entities. The results also suggest that the characteristics of infants with amniotic bands with body wall defects are more similar to the group of infants with body stalk anomalies. This may indicate that the former group is produced during the very early gestation.

Abdominal Muscles↗
PubMed1992

[The diagnosis of congenital heart defects today. Part 1: Ventricular septal defect, pulmonary stenosis, patent ductus arteriosus, atrial septal defect].

Most congenital heart diseases are detected in childhood, but some, such as atrial septal defect, can remain undiagnosed until adulthood. In the first part of this review, taking the auscultation findings and the clinical picture as a basis, the diagnosis of four common congenital heart diseases is discussed: ventricular septal defect, pulmonary stenosis, patient ductus arteriosus, and atrial septal defect. In addition, the latest developments in the field of therapy are briefly considered.

Ductus Arteriosus, Patent↗
PubMedDate not supplied

The hematopoietic defect in PNH is not due to defective stroma, but is due to defective progenitor cells.

Although paroxysmal nocturnal hemoglobinuria (PNH) is often associated with aplastic anemia (AA), the nature of the pathogenetic link between PNH and AA remains unclear. Moreover, the PIG-A mutation appears to be necessary but not sufficient for the development of PNH, suggesting other factors are involved. The ability of PNH marrow cells to form in vitro hematopoietic colonies and the ability of PNH marrow to generate stroma that could support hematopoiesis of normal or PNH marrow in cross culture were investigated. PNH marrow from both post-Ficoll and post-lineage depleted hematopoietic progenitor cells grew similarly significantly fewer colonies than normal marrow. Sorting of CD59(+) and CD59(-) CD34(+) CD38(-) cells from patients with PNH showed similarly impaired clonogenic efficiency, indicating that the hematopoietic defect in PNH does not directly relate to GPI-anchored protein expression. PNH marrow readily grew stroma similar to marrow from normal donors. Cross culture experiments revealed that PNH stroma appears to function normally in vitro; it can support growth of normal marrow cells as well as normal stroma does, but neither PNH nor normal stroma could support the growth of PNH marrow cells. The hematopoietic defect in PNH is not due to defective stroma, but is due to defective progenitor cell growth related to additional unknown factors.

Adult↗
PubMed2004

Two-hybrid Mpp10p interaction-defective Imp4 proteins are not interaction defective in vivo but do confer specific pre-rRNA processing defects in Saccharomyces cerevisiae.

The SSU processome is a large, evolutionarily conserved ribonucleoprotein (RNP), consisting of the U3 snoRNA and at least 28 protein components, that is required for biogenesis of the 18S rRNA. We tested the function of one protein-protein interaction in the SSU processome, Mpp10p-Imp4p, in ribosome biogenesis. Exploiting the reverse two-hybrid system, we screened for mutated Imp4 proteins that were conditionally defective for interaction with Mpp10p. Three different imp4 sequences were isolated that: (i) conferred conditional growth in the two-hybrid strain; (ii) complemented the disrupted imp4; (iii) conferred conditional growth in the context of their normal cellular function; and (iv) resulted in defective pre-rRNA processing at the non-permissive temperatures. Domain swapping revealed that mutations that conferred cold sensitivity resided in the N-terminal coiled-coil domain while mutations in the C-terminus conferred temperature sensitivity. Surprisingly, the mutated Imp4 proteins were not measurably defective for interaction with Mpp10p in the context of the SSU processome. This suggests that other members of the complex may contribute to maintaining the Mpp10p-Imp4p interaction in this large RNP. Since protein-protein interactions are critical for many different aspects of cellular metabolism, our work has implications for the study of other large protein complexes.

Amino Acid Sequence↗
PubMed1985

[Defects in the prostaglandin system. II. Familial platelet-prostacyclin receptor defect (Wien-Hietzing defect)--pathogenetic significance for (early) development of atherosclerosis?].

A case is reported of a 10 year-old girl admitted to hospital because of severe intermittent claudication. Occlusion of the left popliteal artery was diagnosed. Since successful surgical intervention the patient has been symptom-free. No causative factor was detected for this premature occlusion. During intensive laboratory check-up an extreme diminution in sensitivity of the platelets to prostacyclin and a receptor defect were discovered. This defect seems to be genetically determined. The extent to which this as yet unreported platelet defect might have contributed to the development of atherosclerosis at such an early age is discussed.

Arteriosclerosis↗
PubMed1983

Replication of vesicular stomatitis virus defective interfering particle RNA in vitro: transition from synthesis of defective interfering leader RNA to synthesis of full-length defective interfering RNA.

The replication of the RNA of vesicular stomatitis virus (VSV) defective interfering (DI) particles was established in a defined cell-free system. The transition from synthesis of only the DI-leader RNA to replication of the full-length DI RNA was effected in the system by newly synthesized VSV proteins and occurred in the absence of VSV helper virus. Both positive- and negative-polarity full-length DI RNA were synthesized. Furthermore, the products of RNA replication associated with newly synthesized viral proteins to form complexes that were indistinguishable from authentic DI particle nucleocapsids on the basis of buoyant density and resistance to ribonuclease digestion. The DI-leader RNA did not form ribonuclease-resistant structures. We conclude that this in vitro system successfully executes many of the reactions of VSV DI particle replication and assembly.

Capsid↗
PubMed1984

Radiologic and echocardiographic patterns of 98 cases of atrial septal defect without other defects (isolated atrial septal defect).

We collected 98 cases of single atrial septal defect. Analytical study of the pulmonary vasculature and the shape of the heart allowed us to differentiate 71 cases of pulmonary hypervascularity with increased cardiothoracic index and an appearance of right ventricular dilatation. The left inferior segment was usually straight, but sometimes convex, with a great curvature including the middle left segment. Apart from these 71 typical cases, there were 18 cases of incomplete patterns, 7 cases of atypical patterns with a convex left inferior segment with a small curvature and two normal cases (normal shape of the heart and normal vasculature). - Echocardiography was performed in 35 cases. It was valuable in 34 cases and established the diagnosis each time the X-ray picture was uncertain. Increase of the ratio of the telediastolic diameter of the right to left ventricle is almost constant and the septal motion is paradoxical in 79% of all cases. - Post-operative change was characterized from the radiological point of view by rapid return to normal of the pulmonary vascularity, followed by decrease of the cardiothoracic index, while the modifications of the shape of the left middle and inferior segment regress slowly and incompletely. As for echocardiography there is constant decrease of the ratio of the telediastolic diameter of the right to left ventricle, while the septal motion returns to normal in 79% of all cases.

Adolescent↗
PubMed1998

Heterologous protection of mice from a lethal human H1N1 influenza A virus infection by H3N8 equine defective interfering virus: comparison of defective RNA sequences isolated from the DI inoculum and mouse lung.

We have examined the RNAs involved in the heterologous protection of adult mice from otherwise lethal intranasal infection with mouse-adapted human A/WSN (H1N1) by defective interfering (DI) equine A/equine/Newmarket/7339/79 (H3N8: EQV) influenza virus, as well as the RNAs involved in the protection of WSN- or EQV-infected mice by their homologous DI viruses. The aim of this study was to describe the types of defective RNAs present in protected mice in order to guide the design of potentially protective DI RNAs. The interfering and mouse-protecting activity of DI virus was destroyed by prolonged UV irradiation (iDI virus) demonstrating that protection correlated with an active DI genome, and not viral antigen. Protected mice were all infected but suffered a lower degree of morbidity than those given iDI virus. The DI EQV inoculum contained defective segment 1-8 RNAs while DI WSN inoculum contained only defective segment 1-6 RNAs. However lungs of mice given EQV + DI EQV contained only defective segments 1-4 or 1-6 RNAs (mouse-to-mouse variation), while control mice given EQV or EQV + iDI EQV contained few very defective RNAs. Thus prevention of death was the result of quantitative and/or qualitative differences in defective RNAs administered to the mice. Only defective segments 1-3 RNAs were isolated from the lungs of mice given WSN + DI WSN, confirming the earlier report of Noble and Dimmock (1995). A detailed analysis showed that most defective RNAs isolated from the lungs of mice protected from a lethal WSN infection by DI EQV were EQV in origin. Thus, as no infectious EQV was present, these defective RNAs from the DI EQV inoculum must have been heterologously replicated in mouse lung by WSN. All defective segment 3-6 RNAs isolated were of EQV origin, indicating that they were replicated by WSN in preference to its own. Defective segments 1 and 2 were a mixture of EQV and WSN RNAs. Of 17 defective EQV segment 1-3 sequences from mouse lung, all but three differed in their primary central deletion from 20 defective RNAs isolated from the inoculum. No bias in the break points was evident. A number of minor deletions of 2 or more nts were also present in defective EQV and WSN RNAs in segments 1 and 2, but none in segment 3. Their 5', but not 3', breakpoints were heterogeneous, suggesting that defective RNAs were generated during positive strand synthesis. Two cloned EQV-defective segment 3 RNAs were chimeras containing a 30 nt insert from segment 1. Most defective RNAs possessed at least 178 nts from the 5' end of vRNA. The amount of 5' sequence present in those RNAs correlated with the segment of origin, suggesting that this was the minimum required for propagation of viral RNA in mouse lung and hence possibly for protection also.

Animals↗
PubMed2002

Ultrasound imaging of paravaginal defects in women with stress incontinence before and after paravaginal defect repair.

OBJECTIVE: The aim of our study was to analyze whether transabdominal and introital sonography can identify paravaginal defects and to determine changes that occur following paravaginal defect repair and Burch colposuspension. METHODS: Twenty women with genuine stress incontinence took part in this prospective study. The mobility of the bladder neck was assessed transperineally with a curved array probe following instillation of 300 mL saline. The same probe was used transabdominally to determine the presence of paravaginal defects. Introital examination using a transvaginal probe was then performed to determine the presence of paravaginal defects. The same measurements were performed following Burch colposuspension and paravaginal defect repair. RESULTS: There were significant differences in bladder neck position and mobility before and after surgical intervention. In 18 women before surgery, transabdominal ultrasound identified unilateral or bilateral paravaginal defects. Eight unilateral defects were found on the right side but only two were found on the left side. In eight women, the defect was bilateral. The introital approach obtained similar results apart from in two patients with a bilateral defect in whom it indicated a unilateral right defect. Between the first and second weeks following the operation transabdominal ultrasound found no paravaginal defects in 16 women and introital ultrasound found no paravaginal defects in 18 women. We were unable to visualize the region of the paravaginal defect in two women using transabdominal ultrasound because the abdominal wall was edematous after surgery. Five to 6 weeks after the operation, our results were confirmed by abdominal and introital ultrasound in all cases. No paravaginal defects were found in any of the patients after paravaginal defect repair. CONCLUSION: Our clinical study suggests that ultrasound scanning should be performed to confirm the presence of paravaginal defects and that paravaginal defect repair may be added to Burch colposuspension for the treatment of genuine stress incontinence, as an operation to correct cystourethrocele and the posterior urethrovesical angle.

Female↗
PubMed1993

Mismatched vascular defects. An easy alternative to mismatched segmental equivalent defects for the interpretation of ventilation/perfusion lung scans in pulmonary embolism.

The purpose of this investigation was to test the hypothesis that ventilation/perfusion (V/Q) lung scans in patients with suspected acute pulmonary embolism (PE) can be evaluated on the basis of the total number of mismatched vascular defects, irrespective of whether such defects are moderate or large size segmental defects. Lung scan data from the national collaborative study of the Prospective Investigation of Pulmonary Embolism Diagnosis (PIOPED) were assessed in 383 patients with acute PE and 681 patients in whom suspected PE was excluded. The predictive value of the cumulative number of mismatched moderate size segmental defects (irrespective of the number of mismatched large segmental defects) was nearly the same as that of mismatched large segmental defects (irrespective of the number of mismatched moderate size segmental defects). This suggests that the diagnostic value of mismatched moderate size segmental defects is the same as mismatched large segmental defects. Lung scans evaluated on the basis of the number of mismatched vascular defects (moderate and/or large segmental defects) were compared with V/Q scans evaluated on the basis of the number of mismatched segmental equivalents. The maximum likelihood estimates of the areas under the receiver operating characteristic (ROC) curves for the number of mismatched vascular defects and for mismatched segmental equivalents were similar (0.8512 vs 0.8530) (NS). Stratification according to the presence or absence of prior cardiopulmonary disease permitted a more accurate assessment of both clinical groups. Evaluation of V/Q scans by vascular defects and by segmental equivalents showed similar areas under the ROC curves. In conclusion, the number of mismatched vascular defects is as powerful for the assessment of V/Q scans as the number of mismatched segmental equivalents. The number of mismatched vascular defects, however, is easier to interpret, and permits a more objective evaluation.

Humans↗
PubMed2000

Limb defects associated with major congenital anomalies: clinical and epidemiological study from the International Clearinghouse for Birth Defects Monitoring Systems.

Although limb defects associated with other congenital anomalies are rarely studied, they may provide insights into limb development that may be useful for etiologic studies and public health monitoring. We pooled data from 11 birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring Systems. We identified 666 infants, born from 1983 through 1993, who had a non-syndromal limb defect plus at least one other major malformation (rate 12.9/100,000 population). We used observed/expected ratios and log-linear models to detect association patterns. We found that specific limb defects occurred with relatively distinct sets of malformations. Preaxial limb defects occurred more frequently with microtia, esophageal atresia, anorectal atresia, heart defects, unilateral kidney dysgenesis, and some axial skeleton defects; postaxial defects with hypospadias; transverse defects with craniofacial defects, micrognathia, ring constrictions, and muscular defects; intercalary defects with omphalocele; split hand/foot with encephalocele; and amelia with anorectal atresia, omphalocele, severe genitalia defects, unilateral kidney dysgenesis, gastroschisis, and ring constriction. Log-linear modeling identified higher order associations among some of these same malformations.

Cleft Palate↗
PubMed2004

Radiographic parameters for prognosis of periodontal healing of infrabony defects: two different definitions of defect depth.

BACKGROUND: The aim of the present study was to evaluate defect width and two different definitions of defect depth as prognostic factors of periodontal healing in infrabony defects treated by regenerative therapy 6 and 24 months after surgery. METHODS: In 32 patients with moderate to advanced periodontitis, 50 infrabony defects were treated by the guided tissue regeneration (GTR) technique using non-resorbable or bioabsorbable barriers. Clinical parameters were assessed, and 50 triplets of standardized radiographs were taken before surgery and 6 and 24 months after surgery. Using a computer-assisted analysis, the distances cemento-enamel junction (CEJ) to alveolar crest (AC), CEJ to bony defect (BD), horizontal projection of the most coronal extension of the bony wall to the root surface to BD, width, and angle of the bony defects were measured. Depth of the bony defect was 1) calculated as CEJ-BD minus CEJ-AC (INFRA1) and 2) measured as horizontal projection of the most coronal extension of the bony wall to the root surface to BD (INFRA2). RESULTS: Whereas statistically significant vertical clinical attachment level gains (CAL-V: 3.36 +/- 1.59 mm/ 3.41 +/- 1.72 mm; P < 0.001) could be found both 6 and 24 months after surgery, bony fill (0.70 +/- 2.52 mm; P = 0.056/1.21 +/- 2.55 mm; P < 0.005) was significant 24 months post-surgically only. In a multilevel regression analysis, CAL-V gain was predicted by bioabsorbable membrane (P = 0.005), baseline probing depths (PD) (P < 0.001), and actual smoking (P < 0.05). Bony fill could be predicted by baseline depth of the infrabony component as determined by INFRA2 (P < 0.05), angulation of bony defect (P < 0.005), and gingival index at baseline (P < 0.001). In narrow (< 37 degrees) and deep (> or = 4 mm) infrabony defects, bony fill was more pronounced than in wide and shallow defects (P < 0.001). CONCLUSIONS: Improvement achieved by GTR in infrabony defects can be maintained up to 24 months after surgery. Narrow and deep infrabony defects respond radiographically and are to some extent clinically more favorable to GTR therapy than are wide and shallow defects. The infrabony component of bony defects, as determined by the distance from the most coronal extension of the lateral bony wall to BD (INFRA2), is a better predictor of bony fill than that determined by AC-BD (INFRA1).

Absorbable Implants↗
PubMed2005

The use of tensor fascia lata pedicled flap in reconstructing full thickness abdominal wall defects and groin defects following tumor ablation.

BACKGROUND: The tensor fascia lata is a versatile flap with many uses in reconstructive plastic surgery. As a pedicled flap its reach to the lower abdomen and groin made it an attractive option for reconstructing soft tissue defects after tumor ablation. However, debate exists on the safe dimension of the flap, as distal tip necrosis is common. Also, the adequacy of the fascia lata as a sole substitute for abdominal wall muscles has been disputable. The aim of the current study is to report our experience and clinical observations with this flap in reconstructing those challenging defects and to discuss the possible options to minimize the latter disputable issues. PATIENTS AND METHODS: From April 2001 to April 2004, 12 pedicled TFL flaps were used to reconstruct 5 central abdominal wall full thickness defects and 6 groin soft tissue defects following tumor resection. In one case, bilateral flaps were used to reconstruct a large central abdominal wall defect. There were 4 males and 7 females. Their age ranged from 19 to 60. From the abdominal wall defects group, all repairs were enforced primarily with a prolene mesh except for one patient who was the first in this study. Patients presenting with groin defects required coverage of exposed vessels following tumor resection. All patients in the current study underwent immediate reconstruction. RESULTS: The resulting soft tissue defects in this study were due to resection of 4 abdominal wall desmoid tumors, a colonic carcinoma infiltrating the abdominal wall, 4 primary groin soft tissue sarcomas, a metastatic SCC of the leg to groin nodes, and a primary SCC of the groin. The size of the flaps used ranged from 20 x 10 cm to 31 x 18 cm. All flaps survived. However, distal flap necrosis occurred in 4 cases. Three of those cases developed in flaps reconstructing abdominal wall defects, and one case developed in a flap used to cover a groin defect. In the former 3 cases, the flap was simply transposed without complete islanding of the flap. In the latter case, a very large flap was harvested beyond the safe limits with its distal edge just above the knee. In addition, wound dehiscence of the flap occurred in 2 other cases from the groin 132 group. Nevertheless, all the wounds healed spontaneously with repeated dressings. Out of the 5 cases that underwent abdominal wall reconstruction, one case developed ventral hernia, in which bilateral TFL flaps were used without mesh enforcement. There was minimal donor site morbidity in the form of partial skin graft loss in 2 cases. The average follow up period in this study ranged from 6 months to 2 years. Only one patient died of distant metastasis of a SCC of the groin skin, 8 months postoperatively and another 2 patients with abdominal desmoid tumors developed local recurrence. CONCLUSION: The tensor fascia lata flap is a reliable and a versatile flap, with minimal donor site morbidity. Problems with the flap's vascularity of its distal part should not be encountered, if the flap is harvested within the safe limits and properly designed and the edges comfortably insetted to the defect. A pedicled flap would be appropriate for lower abdominal wall defects, and is better islanded to achieve extra mobilization and allow a tension free closure, while for groin defects, simple flap transposition should be enough. Nevertheless, reconstruction for full thickness abdominal wall defects by this flap is a static reconstruction. We therefore strongly recommend enforcing the repair with a synthetic mesh primarily to minimize the incidence of ventral hernia. However, further studies with larger number of cases are needed to confirm this observation.

Abdominal Neoplasms↗