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PubMed1991

Heterogeneity of neural tube defects in Europe: the significance of site of defect and presence of other major anomalies in relation to geographic differences in prevalence.

In the period 1980-1987, neural tube defects were two to three times more prevalent in populations covered by EUROCAT registries in the United Kingdom and Ireland (UKI) than in Continental Europe and Malta (CEM). 1864 NTD cases in a total population of 580,000 births in UKI and 455 cases in a population of 380,000 births in CEM were analysed to find if there were differences in the ratio of prevalence rates between UKI and CEM according to site of the defect and association with non-central nervous system (CNS) anomalies. The prevalence rate ratio was high for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida, and low for encephalocele, lower spina bifida, and anencephaly without other neural tube defects. There was a greater female excess for anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida than for other defects in both geographic areas. There was a female excess for encephalocele in UKI but a male excess in CEM. Certain sites (anencephaly with accompanying spina bifida, iniencephaly, and encephalocele) were more likely to have accompanying non-CNS anomalies. The prevalence rate ratio of multiply malformed NTD was in general lower than for isolated NTD but showed the same pattern by site. The prevalence rate ratio was high for multiply malformed anencephaly with accompanying spina bifida, iniencephaly, and upper spina bifida. The sex ratio was similar between isolated and multiply malformed cases when site of the defect is taken into account. It is concluded that the geographic prevalence pattern and sex ratio differ according to site of NTD but do not differ substantially according to whether NTD is isolated or associated with non-CNS anomalies.

Abnormalities, Multiple↗
PubMed1991

Relation of symptoms to contractility and defect size in infants with ventricular septal defect.

Forty-two infants with a ventricular septal defect (VSD) (21 asymptomatic and 21 symptomatic) were compared with 17 control infants to determine if symptoms of congestive heart failure (i.e., tachypnea/poor growth) were due to depressed contractility or defect size, or both. Echocardiographic indexes of defect size, left ventricular performance (shortening fraction), preload (left ventricular end-diastolic dimension), afterload (left ventricular end-systolic wall stress) and contractility (the relation between velocity of circumferential fiber shortening and wall stress) were measured. Clinical assessment included measurement of weight and respiratory rate. Pulmonary and systemic blood flow were assessed in 17 symptomatic and 3 asymptomatic patients by cardiac catheterization. Although there was no significant difference in age, the symptomatic group had significantly lower weight (5.5 +/- 2.9 vs 7.3 +/- 2.3 kg, p less than 0.05) and a higher respiratory rate (53 +/- 14 vs 43 +/- 6 breaths/min, p less than 0.05), compared with control subjects. The mean pulmonary to systemic blood flow ratio in the symptomatic group was 2.9:1. Preload indexed for body surface area was significantly higher in the groups with a VSD compared with control subjects (asymptomatic, 8.5 +/- 1.7 cm/m2; symptomatic, 9.1 +/- 1.7 cm/m2; control subjects, 6.8 +/- 1.1 cm/m2; p less than 0.05). Shortening fraction, afterload and contractility were not significantly different among all groups. A defect size greater than 0.5 cm (or defect size indexed for body surface area greater than 1.8 cm/m2) was predictive of the presence of symptoms. It is concluded that contractility is normal in infants with a VSD. Symptoms may be related to pulmonary congestion.(ABSTRACT TRUNCATED AT 250 WORDS)

Blood Flow Velocity↗
PubMed1995

Early and late results of repair of tetralogy of Fallot with subarterial ventricular septal defect. A comparative evaluation of tetralogy with perimembranous ventricular septal defect.

Between November 1966 and December 1990, 511 pediatric patients with tetralogy of Fallot underwent corrective operation at Tenri Hospital. There were 78 patients with subarterial ventricular septal defect. Mean age at repair was 5.6 +/- 3.3 years. The method of right ventricular outflow tract reconstruction was simple infundibulectomy in 14 patients, right ventricular ventricular outflow patch in 36, and transannular patch in 28. There were 7 (9.0%) early deaths as a result of low cardiac output syndrome and acute renal failure. The pressure ratio of the right ventricle to the left ventricle was 0.62 +/- 0.18 during the early postoperative catheterization. Follow-up was achieved for 442.6 patient-years and ranged from 0.5 to 27 years, with an average of 8.5 +/- 6.7 years. There were three late deaths (2 cardiac and 1 noncardiac). Actuarial survival was 94.8% +/- 4.0% at 20 years. Catheterization during late follow-up (6.8 +/- 4.7 years after repair) was done in 53 patients and the pressure ratio of the right ventricle to the left ventricle was 0.48 +/- 0.21. Fifteen patients underwent subsequent operation because of residual lesions, including ventricular septal defect in four patients, pulmonary stenosis in nine, combined ventricular septal defect and pulmonary stenosis in one, and pulmonary regurgitation in one, with no mortality. Actuarial rate of freedom from reoperation was 71.1% +/- 8.0% at 10 years and 58.8% +/- 16.8% at 20 years. Patients with tetralogy and subarterial ventricular septal defect were more likely to have the development of residual obstruction at the level of the pulmonary valve anulus after repair than were those with tetralogy and perimembranous ventricular septal defect.

Abnormalities, Multiple↗
PubMed1976

Defective interfering passages of Sindbis virus: nature of the defective virion RNA.

Defective interfering particles of Sindbis virus contain 20S RNA identical to that found in BHK cells co-infected with standard and defective virions. We have characterized these RNAs by their oligonucleotide fingerprints. Most of the oligonucleotides were identical to those found in the mRNA (26S RNA) that codes for the virion structural proteins. Three oligonucleotides found in 20S RNA were absent from the 26S RNA pattern and may represent sequences from the 5' end of the virion RNA. Previous difficulties in describing the nature of the defective virion RNA were due to the aggregated state of the RNA. Nucleocapsids obtained from standard and defective virions were essentially the same size and had about the same density, suggesting that defective particles contain more than a single molecule of 20S RNA.

Base Sequence↗
PubMed1985

Structure of the intracellular defective viral RNAs of defective interfering particles of mouse hepatitis virus.

The intracellular defective RNAs generated during high-multiplicity serial passages of mouse hepatitis virus JHM strain on DBT cells were examined. Seven novel species of single-stranded polyadenylic acid-containing defective RNAs were identified from passages 3 through 22. The largest of these RNAs, DIssA (molecular weight [mw], 5.2 X 10(6)), is identical to the genomic RNA packaged in the defective interfering particles produced from these cells. Other RNA species, DIssB1 (mw, 1.9 X 10(6) to 1.6 X 10(6)), DIssB2 (mw, 1.6 X 10(6)), DIssC (mw, 2.8 X 10(6)) DIssD (mw, 0.82 X 10(6)), DIssE (mw, 0.78 X 10(6)), and DIssF (mw, 1.3 X 10(6)) were detected at different passage levels. RNase T1-resistant oligonucleotide fingerprinting demonstrated that all these RNAs were related and had multiple deletions of the genomic sequences. They contained different subsets of the genomic sequences from those of the standard intracellular mRNAs of nondefective mouse hepatitis virus JHM strain. Thus these novel intracellular viral RNAs were identified as defective interfering RNAs of mouse hepatitis virus JHM strain. The synthesis of six of the seven normal mRNA species specific to mouse hepatitis virus JHM strain was completely inhibited when cells were infected with viruses of late-passage levels. However, the synthesis of RNA7 and its product, viral nucleoprotein, was not significantly altered in late passages. The possible mechanism for the generation of defective interfering RNAs was discussed.

Animals↗
PubMed2002

[Congenital heart defects. Varying degrees of severity; 25 percent of children with heart defects will have persistent cardiac problems in adulthood].

In a population based study including 35,218 infants born alive during the 15-year period 1982-1996, 360 (1%) were diagnosed having a congenital heart defect (CHD). At a follow-up 3-18 years later (median 9.5 years) 154 patients (42.8%) were spontaneously cured, of whom 142 (92.2%) had ventricular septal defects (VSD). 42 patients (11.7%) had died, 22 of whom (52.4%) during the neonatal period (0-28 days after birth). A total of 119 patients (33.1%) underwent therapeutic procedures (surgery, catheter interventions), of whom 24 (20.2%) died. Of the 95 children surviving therapeutic procedures 54 (56.8%) had their defects completely repaired, while 41 (43.2%) had residual defects or cardiac sequelae, often of minor importance. Of 69 children (19.2%) with persistent untreated defects, 43 (62.3%) had VSD. A chromosomal disorder, various syndromes or extracardiac malformations occurred in 72 children (20%). The study underlines the fact that CHD presents itself in varying degrees of severity, including a high neonatal mortality rate as well as a high rate of spontaneous cure.

Abnormalities, Multiple↗
PubMed2006

Coexistent congenital aortic defects, aneurysm of sinus of valsalva, atrial septal defect and infective endocarditis: a case report.

Coarctation of the Aorta is frequently associated with bicuspid aortic valve. This is a risk factor for infective endocarditis. Aneurysm of a sinus of Valsalva is a rare defect with a prevalence of 0.09%. They are associated in 10% of cases with a bicuspid aortic valve and less frequently with coarctation of the aorta and atrial septal defect. It is extremely rare the association of coarctation of the aorta with an atrial septal defect. This is one of the first cases reported in Puerto Rico of an adult patient with coarctation of the aorta in association with a bicuspid aortic valve, a ruptured aneurysm of a sinus of Valsalva and an atrial septal defect. The patient is a 22 year old male with coarctation of the aorta diagnosed since childhood who was admitted at the Cardiovascular Center of Puerto Rico with signs of heart failure due to infective endocarditis secondary to a teeth infection. Upon evaluation with transthoracic and transesophageal echos, he was found to have a coarctation at the aortic isthmus, aortic root dilatation, bicuspid aortic valve with vegetation, severe aortic and tricuspid regurgitation, aneurysm of the non coronary sinus of Valsalva with perforation to the right atrium, biatrial enlargement and a dilated right ventricle. Successful antibiotic treatment of endocarditis was achieved followed by surgical replacement of the aortic valve and ascending aorta with closure of the non coronary sinus of Valsalva was done. An secundum atrial septal defect was found and was also closed. Surgical correction of the coarctation of the aorta was postponed for a future time. The patient had a successful postsurgical recovery and was discharged home with anticoagulation treatment.

Abnormalities, Multiple↗
PubMed1993

Second natural history study of congenital heart defects. Quality of life of patients with aortic stenosis, pulmonary stenosis, or ventricular septal defect.

BACKGROUND: Quality of life of patients with congenital heart defects is an important aspect of the assessment of outcome of medical and surgical treatment. METHODS AND RESULTS: All participants in the Second Natural History Study of Congenital Heart Defects who completed the study questionnaire were included in this analysis. The questionnaire completed by the patients included inquiries relative to medical history, marital and family life, self-perception of well-being, insurability, and employability. The following general observations were apparent. The study cohort reported a self-perception of health status that was similar to that of the general population. Second, 35-40% of patients had not had a cardiac evaluation within the previous 10 years. Third, 16% of the patients had no health insurance, and 35.7% of the patients had no life insurance. For the patients with pulmonary stenosis and ventricular septal defect, the percent who were married was less than that of the corresponding national age- and sex-specific population. For patients with aortic stenosis, the percent married was greater than that of the general population for some age groups. The proportion of divorced or separated individuals was similar to that of the general population. For all three defects, the level of educational attainment exceeded the national average. Last, unemployment rates were similar to national averages except for women with aortic stenosis, who had a significantly higher unemployment rate than did age- and sex-matched controls. CONCLUSIONS: Patients initially identified with aortic stenosis, pulmonary stenosis, or ventricular septal defect in 1959-1973 have a quality of life in the mid-1980s similar to that of the general US population.

Adult↗
PubMed2000

Defective recruitment and activation of ZAP-70 in common variable immunodeficiency patients with T cell defects.

We have previously identified a subset of common variable immunodeficiency (CVID) patients with defective T cell function associated with impaired activation of the TCR-dependent tyrosine phosphorylation cascade. Here we have assessed the structural and functional integrity of the principal components involved in coupling the TCR/CD3 complex to intracellular tyrosine kinases in two of these patients. We show that ZAP-70 fails to bind the signaling-competent CD3zeta tyrosine phosphorylation isoform and to become activated following TCR engagement, suggesting that defective recruitment of ZAP-70 might underlie the TCR signaling dysfunction in these patients. Determination of the nucleotide sequences encoding the intracellular domains of the CD3/zeta subunits and ZAP-70 did not reveal any mutation. Furthermore, ZAP-70 from these patients could interact in vitro with recombinant phospho-zeta, ruling out genetic defects at the immunoreceptor tyrosine-based activation motif/SH2 domain interface responsible for ZAP-70 recruitment to the activated TCR. No defect was found in expression, activity or subcellular localization of Lck, which is thought to be primarily responsible for CD3zeta phosphorylation. Hence, while the T cell defect in these CVID patients can be pinpointed to the interaction between ZAP-70 and CD3zeta, the integrity in the components of the signaling machinery involved in this process suggests that additional components might be required for completion of this step.

Animals↗
PubMed1999

Characterization of matrix-induced osteogenesis in rat calvarial bone defects: I. Differences in the cellular response to demineralized bone matrix implanted in calvarial defects and in subcutaneous sites.

The cellular and biochemical sequences of osteogenesis induced by implanting demineralized bone matrix (DBM) in rat cranial defects and in subcutaneous sites have been studied by histological, histochemical, and biochemical techniques from days 2 to 28 after implantation. In subcutaneous sites, allogenic DBM induced cartilage cells and matrix for approximately the first 10 days which were subsequently resorbed and replaced by bone with little evidence for the classical endochondral sequence of ossification. In sharp contrast, the first cells that differentiated from the mesenchymal stem cells in the cranial defects were alkaline phosphatase (ALP) positively stained osteoblasts that appeared 3 days after implantation followed by synthesis of bone matrix which calcified shortly thereafter. A few clusters of cartilage cells were observed beginning at days 6-7 which were spatially distinct from the new bone and later resorbed. By day 28 the tissue induced in both the subcutaneous and cranial sites consisted almost solely of bone; however, the total amount of new bone in the subcutaneous implants was significantly less than the mass of bone formed in the calvarial defects. Bovine DBM induced bone formation in rat cranial defects to a very much lesser extent than allogenic DBM. A few cartilage cells were induced by bovine DBM in subcutaneous sites and rapidly resorbed and not replaced with bone. These results clearly indicate that the cellular sequence induced by allogenic and xenogenic DBM and the repair tissues synthesized are distinctly different in the cranial defects from those induced in the subcutaneous sites.

Alkaline Phosphatase↗
PubMed2003

Articular cartilage repair of rabbit chondral defect: promoted by creation of periarticular bony defect.

This study investigated the stimulatory effect of bone healing on cartilage regeneration. Full-thickness osteochondral defects, 5 mm wide x 3 mm deep, were created in the patellar groove of the right distal end of the femur in 60 mature Japanese white rabbits. The bone defect was made in the medial condyle of the ipsilateral tibia in the experimental group. The control group had only a chondral defect in the patellar groove. At 4, 8, and 12 weeks after surgery, cartilage repair was evaluated macroscopically and histologically using a semiquantitative grading scale. The mean scores of the gross and histological evaluation grade in the experimental group were significantly superior to those in the control group at 8 and 12 weeks ( P << 0.05). These findings suggested that regeneration of articular cartilage defects might be promoted by creation of a periarticular bony defect.

Animals↗
PubMed1995

A growth-defective kirromycin-resistant EF-Tu Escherichia coli mutant and a spontaneously evolved suppression of the defect.

This study has investigated the cause of a growth-defect phenotype of a mutation in the elongation factor EF-Tu from Escherichia coli. An M13-based genetic retrieval system reported by Zeef and Bosch [Mol. Gen. Genet. 238 (1993) 252-260] was used to segregate and identify an extremely growth-defective kirromycin-resistant (KrR) tufA mutation, encoding Gln124-->Lys (Q124K), from a KrR parent strain. This original strain also contained mutations, 124com1 and 124com2, that appear to have evolved to suppress the Q124K tufA mutation. In this communication we present these M13-based genetic experiments together with additional genetic and protein characterization experiments to clarify the basis of this complementation. The data indicate that the serious growth defect of Q124K originates from a defective GTP/GDP interaction. The GTP/GDP binding and GTP hydrolysis characteristics of ET-Tu Q124K were different from wild-type EF-Tu and especially of another KrR EF-Tu mutant A375T. In line with this, 124com1 specifically complemented EF-Tu Q124K, whereas the growth defects of strains containing EF-Tu mutated at aa 375 were aggravated. We also show that strains containing the segregated tufA Q124K mutation formed filaments.

Anti-Bacterial Agents↗
PubMed2002

Visual field defect caused by nerve fiber layer damage associated with an internal limiting lamina defect after uneventful epiretinal membrane surgery.

PURPOSE: To report a case of visual field defect caused by damage of the nerve fiber layer associated with an internal limiting lamina defect after uneventful epiretinal membrane peeling. DESIGN: Interventional case report. METHODS: In the right eye, a 43-year-old male patient developed a nasal step and mild inferior arcuate scotoma after uneventful epiretinal membrane surgery without any associated glaucoma. Transmission electron microscopy was performed on the epiretinal membrane specimens. RESULTS: An epiretinal membrane specimen showed adhesion between epiretinal membrane and axons of nerve fiber layer in the area of the internal limiting lamina defect. CONCLUSION: Adhesion between epiretinal membrane and retinal tissue in the area of the internal limiting lamina defect may cause damage of the nerve fiber layer and visual field defect after epiretinal membrane peeling.

Adult↗
PubMed2003

[Differences in clinical presentation between subjects with a phenotype of familial hypercholesterolemia determined by defects in the LDL-receptor and defects in Apo B-100].

INTRODUCTION AND OBJECTIVES: Familial hypercholesterolemia and familial defective Apo B-100 are phenotypically indistinguishable. At present they can be distinguished by genetic analysis. PATIENTS AND METHODç We compared the clinical features of 13 subjects with familial defective Apo B-100 and 39 subjects with familial hypercholesterolemia. We used data from first degree relatives to compare morbidity and mortality between the two groups. RESULTS: We found statistically significant differences in total cholesterol and LDL cholesterol, which were lower in the familial defective Apo B-100 group (TC = 357 37.3 mg/dl vs 415 79.7 mg/dl and LDLc = 270 34.2 mg/dl vs 355 72.4 mg/dl). We found no differences in xanthomas, corneal arcus, smoking status, vascular events, blood pressure, BMI or waist/hip ratio. There were no differences between the two groups in the proportions of patients with cardiovascular disease or patients who died. We found statistically significant differences between the groups (p = 0.023) in the mean age at first vascular event (familial hypercholesterolemia and first degree relatives: 45.3 19.9 years; familial defective Apo B-100 and first degree relatives: 51.5 20.8 years). CONCLUSIONS: We conclude that familial defective Apo B-100 results in clinically milder hypercholesterolemia than familial hypercholesterolemia, and that discerning between them could be helpful to stratify the risk in persons with hereditary hypercholesterolemia.

Apolipoprotein B-100↗
PubMed2004

A new method for rapid visualization of defects in leaf cuticle reveals five intrinsic patterns of surface defects in Arabidopsis.

The epidermis of higher plants generates the cuticle layer that covers the outer surface of each plant. The cuticle plays a crucial role in plant development, and some mutants with defective cuticle exhibit morphological abnormalities, such as the fusion of organs. The way in which the cuticle forms and its contribution to morphogenesis are poorly understood. Conventional detection of the cuticle by transmission electron microscopy (TEM) requires laborious procedures, which include fixation, staining with osmium, and preparation of ultra-thin sections. It is also difficult to survey entire surfaces of expanded leaves because of the limited size of specimens that can be examined. Thus, TEM is unsuitable for large-scale screening for mutants with defective cuticle. We describe here a rapid and inexpensive method, designated the toluidine-blue (TB) test, for detection of cuticular defects in whole leaves. We demonstrated the validity of the TB test using mutants of Arabidopsis thaliana, including abnormal leaf shape1 (ale1), fiddlehead (fdh), and five eceriferum (cer) mutants, in which the structure and/or function of the cuticle is abnormal. Genetic screening for mutants using the TB test allowed us to identify seven loci. The cuticle-defective regions of leaves of the mutants revealed five intrinsic patterns of surface defects (classes I through V), suggesting that formation of functional cuticle on leaves involves various spatially regulated factors.

Arabidopsis↗
PubMed1997

Perinatal features of omphalocele-exstrophy-imperforate anus-spinal defects (OEIS complex) associated with large meningomyeloceles and severe limb defects.

Omphalocele-Exstrophy-Imperforate anus-Spinal defects (OEIS complex), a combination of omphalocele, exstrophy of the bladder, an imperforate anus and spinal defects, arises from a single localized defect in the early development of the mesoderm that will later contribute to infraumbilical mesenchyme, cloacal septum, and caudal vertebrae. In this report, we document the perinatal features of two cases of OEIS complex associated with meningomyeloceles and severe lower limb defects, and discuss the prenatal diagnosis, inheritance, and differential diagnosis of this association of malformations. Although long-term survival can be achieved by successful corrective surgery, the associated structural defects such as large meningomyelocele and severe limb aplasia or hypoplasia, as seen in our patient, can influence the patient's quality of life. We would like to emphasize that an accurate prenatal diagnosis of OEIS complex and associated malformations is important for the detailed counseling of the family as well as appropriate perinatal management by the obstetricians, pediatric surgeons, urologists, neurosurgeons, and neonatologists.

Abnormalities, Multiple↗
PubMed1975

X-linked B-lymphocyte immune defect in CBA/N mice. II. Studies of the mechanisms underlying the immune defect.

The mechanisms underlying the X-linked thymus-independent (B) lymphocyte functional defect in the CBA/N (CN) mice and their F1 progeny were studied. Immune defective mice were unable to respond to the T-independent antigen 2,4-dinitrophenyl-lysyl-derivative of Ficoll (DNP-lys-Ficoll) but were able to form antibody against the highly cross-reactive hapten (trinitrophenyl) when it was coupled to an erythrocyte carrier. Immune defective CN X DBA/2N (DN) F1 male mice, which do not normally respond to T-independent antigens, were able to respond to both polyribosinic-polyribocytidylic acid and DNP-lys-Ficoll after the administration of CN X DN F1 female spleen cells even if these cells had been depleted of T lymphocytes. In addition, it was shown that the inability of the CN mice and their F1 progeny to respond to T-independent antigens was not due to an intrinsic abnormality of their microenvironment or the suppressive actions of a T lymphocyte. Our data present evidence that the X-linked defect in the CN mice is due to an intrinsic defect in B-lymphocyte development.

Animals↗
PubMed1982

Studies of defective tolerance induction in NZB mice. Evidence for a marrow pre-T cell defect.

NZB mice manifest a defect in tolerance induction by deaggregated heterologous gamma globulins. We have used an adoptive transfer system to study the defect. Thymectomized, intact, or thymectomized recipients given thymic epithelial grafts were studied after lethal irradiation and reconstitution with NZB, DBA/2, or (NZB x DBA(F1 marrow depleted of mature T cells. NZB thymocytes were responsible for the tolerance defect of NZB mice. The information for the defect was present in the NZB marrow prethymocyte. That defect could only be expressed when there was further maturation in association with a thymus. However, the normal DBA/2 thymic epithelium served as well as the abnormal NZB thymic epithelium. These studies resolve existing conflicts as to whether the NZB marrow or thymus is responsible for the loss of tolerance in association with autoimmunity.

Animals↗