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5,700 | 6,370 | Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa.
The microsatellite marker DXS426 maps to the interval Xp21.1-Xp11.21, the chromosomal region which contains two loci for X-linked retinitis pigmentosa (XLRP; RP2 and RP3).
We have refined the lo... | C16 |
5,701 | 6,196 | Balloon angioplasty of stenosed Blalock-Taussig anastomosis: role of balloon-on-a-wire in dilating occluded shunts.
Six children with cyanotic congenital heart defects, aged 6 to 60 months, underwent percutaneous balloon angioplasty of a narrowed Blalock-Taussig (BT) shunt to improve arterial oxygen saturation.
The i... | C16 |
5,702 | 3,663 | Aberrant morphogenesis of the central nervous system.
This overview of congenital defects of the CNS has emphasized pathogenesis.
As developmental pathways continue to be elucidated, this approach remains to an extent hypothetical.
When, however, an understanding of the features of morphogenesis and dysmorphogenesis... | C16 |
5,703 | 7,725 | Intraoperative transesophageal versus epicardial ultrasound in surgery for congenital heart disease.
Twenty-eight patients (age range, 0.7 to 65 years; median age, 6.1 years) who were undergoing correction for congenital heart disease were entered into a prospective study with both intraoperative transesophageal and e... | C16 |
5,704 | 6 | Periventricular hyperintensity detected by magnetic resonance imaging in infancy.
Twenty-one infants younger than 12 months of age were diagnosed as having periventricular hyperintensity (PVH) on T2-weighted magnetic resonance imaging.
Ten infants had experienced neonatal asphyxia, 6 intracranial hemorrhage, 2 bacter... | C16 |
5,705 | 3,530 | Right ventricular growth after transventricular pulmonary valvotomy and central aortopulmonary shunt for pulmonary atresia and intact ventricular septum.
We performed transventricular pulmonary valvotomy as initial surgery in 22 consecutive patients with pulmonary atresia and intact ventricular septum who had a patent... | C16 |
5,706 | 2,538 | Ultrasonographic detection of the second-trimester fetus with trisomy 18 and trisomy 21.
Biparietal diameter/femur length ratio and nuchal thickness were found to be sensitive indicators for the prenatal detection of trisomy 18 and trisomy 21.
A biparietal diameter/femur length ratio greater than 1.5 SD above the con... | C16 |
5,707 | 5,525 | Aggressive or expectant management for patients with severe preeclampsia between 28-34 weeks' gestation: a randomized controlled trial.
Fifty-eight women with severe preeclampsia between 28-34 weeks' gestation qualified for a randomized controlled trial to establish whether elective delivery 48 hours after administrat... | C16 |
5,708 | 7,848 | Magnetic resonance imaging evaluation of congenital dislocation of the hips.
Magnetic resonance (MR) images were obtained preoperatively and postoperatively for 12 pediatric patients with congenital dislocation of the hip (CDH).
The images were compared with arthrograms and computed tomography scans.
The MR images w... | C16 |
5,709 | 7,738 | Tetralogy of Fallot with anomalous pulmonary venous connections: a rare but clinically important association.
Anomalous pulmonary venous connections were found in seven (0.6%) of 1183 patients with tetralogy of Fallot.
Three patients had totally anomalous connections (one supracardiac, one direct to coronary sinus, a... | C16 |
5,710 | 4,399 | Supraventricular tachycardia due to Wolff-Parkinson-White syndrome in children: early disappearance and late recurrence
The clinical course of 140 patients with Wolff-Parkinson-White syndrome who had their initial episode of supraventricular tachycardia before 18 years of age was reviewed.
Among those whose tachycar... | C16 |
5,711 | 9,965 | Ischiopagus tetrapus twins: urological aspects of separation and 10-year followup.
Conjoined twins occur once in 50,000 births.
Only 6% of conjoined twins are of the ischiopagus type in which the twins are joined symmetrically at the pelvis and fusion begins at the level of the common umbilicus.
The longitudinal axi... | C16 |
5,712 | 7,647 | Ultrasonic forms of posterior staphyloma.
The most frequent deformations of the globe encountered in pediatric ophthalmology are staphylomas and colobomas.
In this paper we reviewed 16 ultrasonographically diagnosed staphylomas and classified the ultrasonographic patterns produced by staphyloma cases into four types:... | C16 |
5,713 | 634 | Evaluation of the magnitude of gastro-oesophageal reflux in Barrett's oesophagus.
A manometric study to determine the role of gastro-oesophageal reflux in Barrett's oesophagus was performed on 20 patients with Barrett's oesophagus and 53 patients with reflux oesophagitis without Barrett's oesophagus (25 with mild oeso... | C16 |
5,714 | 256 | Acquired Lutembacher syndrome or mitral stenosis and acquired atrial septal defect after transseptal mitral valvuloplasty.
Critical mitral stenosis in selected patients may be treated successfully with percutaneous mitral valvuloplasty.
Complications of this procedure, particularly an atrial septal defect following t... | C16 |
5,715 | 3,529 | Longitudinal results after first-stage palliation for hypoplastic left heart syndrome.
To evaluate the results of palliative surgery for hypoplastic left heart syndrome, we reviewed the records of 57 infants who underwent first-stage reconstruction at our institution between July 1983 and April 1989.
Of the 57 infant... | C16 |
5,716 | 50 | Echocardiographic diagnosis of a ruptured aneurysm of the sinus of Valsalva: operation without catheterisation in seven patients.
A ruptured aneurysm of the sinus of Valsalva was diagnosed by Doppler, colour, and cross sectional echocardiography in a consecutive series of seven patients.
The diagnoses were confirmed ... | C16 |
5,717 | 9,138 | Cardiovascular anomalies associated with prenatal exposure to theophylline.
Theophylline has been shown to be a potent cardiovascular teratogen in animals, but there has been no evidence linking theophylline with congenital anomalies in infants.
The cardiovascular anomalies in our three patients were aortic anomalies... | C16 |
5,718 | 3,896 | Gene mapping and other tools for discovery.
Genetic mapping provides a means of understanding the molecular basis of inherited diseases whose biochemistry is unknown.
Adequate pedigrees, informative genetic markers, and accurate identification of the disease phenotype are necessary.
For dominant inheritance, mapping... | C16 |
5,719 | 3,531 | Fontan operation in 176 patients with tricuspid atresia. Results and a proposed new index for patient selection.
Between 1973 and March 1989, 176 patients with tricuspid atresia had the Fontan procedure performed at the Mayo Clinic.
Age range at the time of surgery was 7 months to 42 years, with 43 patients (24%) 16 ... | C16 |
5,720 | 5,648 | Impact of intrauterine growth retardation and body proportionality on fetal and neonatal outcome.
Previous prognostic studies of infants with intrauterine growth retardation (IUGR) have not adequately considered the heterogeneity of IUGR in terms of cause, severity, and body proportionality and have been prone to misc... | C16 |
5,721 | 8,604 | Tolerance and dependence in neonates sedated with fentanyl during extracorporeal membrane oxygenation.
We undertook a retrospective chart review of 37 neonates who received fentanyl by continuous infusion while undergoing extracorporeal membrane oxygenation (ECMO) between May 1986 and October 1988.
We quantified the ... | C16 |
5,722 | 5,346 | Concurrence of malignant hyperthermia and congenital abnormalities.
Two children about to undergo corrective surgery were required to be investigated for malignant hyperthermia (MH).
These investigations arose out of concern by the anesthetist who had obtained a history of unexplained pyrexial reactions to anaestheti... | C16 |
5,723 | 5,893 | In vitro colony culture and chromosomal studies in hepatic and portal vein thrombosis--possible evidence of an occult myeloproliferative state.
We have studied the prevalence of an underlying myeloproliferative state in 20 patients with either hepatic or portal vein thrombosis.
Using conventional clinical and laborat... | C16 |
5,724 | 2,482 | Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases.
Making use of the p1bD5 probe (DXS165), we have isolated several markers from the choroideremia locus by chromosomal jumping, preparative field-inversion gel electrophoresis, and cloning of a deletion junction fragment.
W... | C16 |
5,725 | 3,534 | Atrial cardiomyoplasty after Fontan-type procedures.
The purpose of right atrial cardiomyoplasty is to increase atrial-pulmonary flow in patients undergoing Fontan-type procedures.
We developed two surgical techniques to bypass the right ventricle, followed by right atrial cardiomyoplasty with a stimulated latissimus... | C16 |
5,726 | 6,443 | Direct analysis of uncultured cytotrophoblastic cells from second- and third-trimester placentas: an accurate and rapid method for detection of fetal chromosome abnormalities.
Transabdominal chorionic villus sampling can be readily used for detection of fetal chromosome abnormalities in the second and third trimesters... | C16 |
5,727 | 492 | Fertility after contraception or abortion.
There is a very small correlation, if any, between the prior use of OCs and congenital malformations, including Down's syndrome.
There are few, if any, recent reports on masculinization of a female fetus born to a mother who took an OC containing 1 mg of a progestogen during... | C16 |
5,728 | 925 | The automatic implantable cardioverter-defibrillator in young patients.
An international survey identified 40 patients less than 20 years old who underwent surgical implantation of an automatic implantable cardioverter-defibrillator (AICD).
There was a history of aborted sudden cardiac death or sustained ventricular ... | C16 |
5,729 | 8,272 | Improved outcome at 28 days of age for very low birth weight infants treated with a single dose of a synthetic surfactant
Two identical double-blind, controlled, randomized trials were initiated to determine whether the administration of a single 5 ml/kg dose of a synthetic surfactant (Exosurf Neonatal), soon after t... | C16 |
5,730 | 3,508 | Baffle fenestration with subsequent transcatheter closure. Modification of the Fontan operation for patients at increased risk
Ventricular dysfunction, elevated pulmonary vascular resistance, and residual distal pulmonary artery distortion contribute to early mortality after a Fontan operation; they may be transient ... | C16 |
5,731 | 5,384 | The relation between genotype and phenotype in cystic fibrosis--analysis of the most common mutation (delta F508).
BACKGROUND AND METHODS.
Both the clinical manifestations of cystic fibrosis and the genotypes of patients are heterogeneous, but the associations between the two are not known.
We therefore studied bloo... | C16 |
5,732 | 8,752 | Can prepregnancy care of diabetic women reduce the risk of abnormal babies?
OBJECTIVE--To see whether a prepregnancy clinic for diabetic women can achieve tight glycaemic control in early pregnancy and so reduce the high incidence of major congenital malformation that occurs in the infants of these women.
DESIGN--An ... | C16 |
5,733 | 252 | Coronary artery anomalies in 126,595 patients undergoing coronary arteriography.
Coronary artery anomalies were found in 1,686 patients (1.3% incidence) undergoing coronary arteriography at the Cleveland Clinic Foundation from 1960 to 1988.
Of the 1,686 patients, 1,461 (87%) had anomalies of origin and distribution, ... | C16 |
5,734 | 6,869 | Combined repair of transposed great arteries and total anomalous pulmonary venous connection.
We report an unusual association of transposition of the great arteries and total anomalous pulmonary venous connection in the right atrium that was successfully repaired by a modified Mustard procedure. | C16 |
5,735 | 4,426 | Intracardiac shunting in children with ventricular septal defect: evaluation with Doppler color flow mapping
In children with a ventricular septal defect, transseptal blood flow has been demonstrated angiographically to be bidirectional in all but the smallest defects.
To investigate this phenomenon noninvasively, t... | C16 |
5,736 | 239 | Klinefelter's syndrome with anomalous origin of left main coronary artery
Klinefelter's syndrome is a rare entity.
Even rarer is an anomalous origin of the Left Main Coronary Artery.
For both conditions to occur in the same patient is hence exceedingly rare.
Reported here is a never previously reported case of a c... | C16 |
5,737 | 5,585 | Macular dystrophy of the cornea. A systemic disorder of keratan sulfate metabolism.
The serum of most patients with type 1 macular corneal dystrophy (MCD), the most prevalent subtype, lacks detectable antigenic keratan sulfate (KS), and it has been postulated that such individuals may lack antigenic KS in their cartil... | C16 |
5,738 | 9,572 | Maximum blood flow rates for arterial cannulae used in neonatal ECMO.
The arterial cannulae used in neonatal ECMO cause hemolysis and red blood cell damage at elevated blood flows.
Hemolysis in extracorporeal circuits has been found to occur with shear stress greater than 132 dynes/cm2, turbulence as measured by Reyn... | C16 |
5,739 | 2,486 | Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232 [published erratum appears in Am J Hum Genet 1990 Nov;47(5):883]
Kallmann syndrome is a genetically heterogeneous disease characterized by hypogonadotr... | C16 |
5,740 | 2,266 | Therapeutic cardiac catheterization in children
Cardiac catheterization, once the mainstay of diagnosis in children with congenital heart disease, has become a therapeutic modality for many conditions.
Balloon dilatation can now open stenotic valves and vessels, coils and umbrellas can now close unwanted communicati... | C16 |
5,741 | 5,531 | The association between oligohydramnios and intrauterine growth retardation.
Among 147 cases of suspected intrauterine growth retardation (IUGR) identified based upon ultrasonic abdominal circumference below the tenth percentile, 56 were confirmed IUGR infants at birth and 91 were non-IUGR infants.
Eight of 316 contr... | C16 |
5,742 | 9,659 | Alpha 1-acid glycoprotein and the binding of lidocaine in children with congenital heart disease.
The purpose of this study was to evaluate the effect of congenital heart disease (CHD) on the serum concentrations of alpha 1-acid glycoprotein (alpha 1-AGP) and the serum binding of lidocaine.
Thirteen children with acy... | C16 |
5,743 | 8,815 | True hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, 46,XX/46,XY karyotype, and a successful pregnancy.
The first case (to the authors' knowledge) is reported of a true hermaphrodite with bilateral ovotestes, bilateral gonadoblastomas and dysgerminomas, a 46, XX/46,XY karyotype, an... | C16 |
5,744 | 3,728 | Quality of well-being before and after antibiotic treatment of pulmonary exacerbation in patients with cystic fibrosis.
General quality of life has only recently been measured with an objective tool in patients with cystic fibrosis (CF), and there have been no reported attempts to document changes in patients' overall... | C16 |
5,745 | 3,533 | Morphological findings contributing to a failed Fontan procedure. Twelve-year experience.
A group of 37 patients (age range, 3 months to 29 years) who died after the modified Fontan procedure (within 2 months), representing 15% of the 245 patients undergoing this procedure from 1976 through 1988, was reviewed to deter... | C16 |
5,746 | 2,712 | Anterior fontanel pressure and visual evoked potentials in neonates and infants undergoing profound hypothermic circulatory arrest.
To determine the effects of cardiopulmonary bypass with profound hypothermic circulatory arrest (PHCA) on anterior fontanel pressure (AFP) and visual evoked potentials (VEPs), 21 neonates... | C16 |
5,747 | 6,449 | The associated anomalies that determine prognosis in congenital omphaloceles.
Cogenital abdominal wall defects such as omphaloceles can be recognized by fetal ultrasonography.
To determine whether associated anatomic features may be useful in determining fetal prognosis, a retrospective study was performed over a 5-y... | C16 |
5,748 | 2,954 | Value of transesophageal echocardiography during repair of congenital heart defects.
Two-dimensional transesophageal color Doppler echocardiography was employed intraoperatively in 30 children undergoing repair of a variety of simple and complex cardiac malformations.
There were 16 female and 14 male patients, with a... | C16 |
5,749 | 848 | Absence of estrogen receptors in dysplastic nevi and malignant melanoma.
Benign nevi, dysplastic nevi, and primary and metastatic malignant melanomas were evaluated for the presence of sex hormone binding and estrogen receptor protein.
We have confirmed the observation of Ellis et al.
that some pigmented lesions pos... | C16 |
5,750 | 6,371 | Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
In exon 1 at codon 23 of the rhodopsin gene, a mutation resulting in a proline-to-histidine substitution has previously been observed in approximately 12% of American autosomal domin... | C16 |
5,751 | 625 | Characteristics of cholinergic neuroeffector transmission of ganglionic and aganglionic colon in Hirschsprung's disease.
Differences in the release and content of acetylcholine and the alpha 2 adrenoceptor mediated interaction between noradrenergic and cholinergic neurons were investigated by neurochemical and pharmac... | C16 |
5,752 | 5,519 | Early amniocentesis: report of 407 cases with neonatal follow-up.
Amniocentesis was performed for prenatal diagnosis in 407 pregnancies between the gestational ages of 11-14 weeks.
The safety and accuracy of the procedure were compared with data obtained from collaborative studies of amniocentesis performed later in ... | C16 |
5,753 | 4,948 | Early ribavirin treatment of respiratory syncytial viral infection in high-risk children.
A 3-year prospective, blinded, multicenter study was done to assess the efficacy of early ribavirin intervention in mild respiratory syncytial virus illness in children with bronchopulmonary dysplasia or with congenital heart dis... | C16 |
5,754 | 2,932 | Surgical therapy in Barrett's esophagus.
Seventy-six patients with Barrett's esophagus were cared for during a 10-year period.
Fifty-six patients (74%) presented with complications of the disease.
There were 20 strictures, 7 giant ulcers, 11 cases of dysplasia, and 29 patients with carcinoma.
In patients with benig... | C16 |
5,755 | 9,694 | Esophageal adenocarcinoma in a patient with surgically treated achalasia.
Although squamous cell carcinoma of the esophagus occurs with increased incidence in primary achalasia, esophageal adenocarcinoma has been considered rare in this condition.
We report a patient with long-standing achalasia in whom adenocarcinom... | C16 |
5,756 | 4,946 | Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome).
The clinicopathologic and radiologic features of 12 children with complete and incomplete forms of Drash syndrome are reported.
Their common denominator was a nephropathy.
Four had the full triad, c... | C16 |
5,757 | 9,038 | Congenital abnormalities of the lymphatic system: a new clinical classification.
The numerous clinical presentations of congenital abnormalities of the lymphatic system in children and the confusing terminology used to describe their pathologic diagnoses impede the physician's understanding of the condition.
The clin... | C16 |
5,758 | 3,440 | Coronary angioplasty of anomalous coronary arteries: notes on technical aspects.
Five patients with significant atherosclerotic lesions of anomalous coronary arteries underwent coronary angioplasty of the anomalous vessel.
Four patients had anomalous circumflex artery and 1 had an anomalous right coronary artery.
An... | C16 |
5,759 | 3,662 | Teratogenically induced fetal anomalies.
A variety of infectious and physical agents, maternal diseases and altered metabolic states, and drugs and chemicals have been shown to cause postnatal structural or functional disabilities when embryonic or fetal exposure occurs during human pregnancy.
These disabilities are ... | C16 |
5,760 | 7,421 | Calvarial sutural abnormalities: metopic synostosis and coronal deformation--an anatomic, three-dimensional radiographic, and pathologic study.
The purposes of this study were (1) to evaluate the histologic differences between synostotic versus deformational suture abnormalities and (2) to correlate these histologic f... | C16 |
5,761 | 8,774 | Treatment of infants with neurogenic bladder dysfunction using anticholinergic drugs and intermittent catheterisation.
The use of anticholinergic drugs in infants with neurogenic dysfunction has not been well documented.
In this study, 35 neonates at risk of upper urinary tract damage from neurogenic dysfunction were... | C16 |
5,762 | 5,254 | Person-to-person transmission of Pseudomonas cepacia between patients with cystic fibrosis.
Ribotyping, a method of strain identification based on analysis of bacterial genomic restriction fragment length polymorphisms, was used to investigate the acquisition of Pseudomonas cepacia by a patient with cystic fibrosis.
... | C16 |
5,763 | 927 | Comparative roles of intraoperative epicardial and early postoperative transthoracic echocardiography in the assessment of surgical repair of congenital heart defects
In 94 consecutive patients undergoing surgical repair of congenital heart defects the results of intraoperative (after cardiopulmonary bypass) epicardi... | C16 |
5,764 | 6,821 | Prediction of acute renal failure after birth asphyxia.
Twenty-one babies of 34-41 weeks' gestational age with birth asphyxia (5 minute Apgar score less than or equal to 5 or umbilical artery pH less than or equal to 7.2) were studied during the first two days of life to find out whether the urinary excretion of tubul... | C16 |
5,765 | 2,480 | Benign missense variations in the cystic fibrosis gene.
The common mutation causing cystic fibrosis is a deletion of phenylalanine 508 (delta F508), which occurs in a putative nucleotide-binding fold of the gene product.
We report two additional mutations, substitution of cysteine for phenylalanine 508 (F508C) and su... | C16 |
5,766 | 4,686 | Serum immunoglobulins E and G anti-Aspergillus fumigatus antibody in patients with cystic fibrosis who have allergic bronchopulmonary aspergillosis.
Patients with cystic fibrosis frequently have pulmonary colonization with Aspergillus fumigatus (Af) and develop anti-Af immunoglobulin E (IgE) and IgG antibodies.
The d... | C16 |
5,767 | 2,556 | Placental histology in fetuses between 18 and 23 weeks' gestation with abnormal karyotype.
Placentas from karyotypically abnormal fetuses (18 to 23 weeks' gestation) were analyzed prospectively at the light microscopic level.
Group I consisted of 14 control placentas.
Group II consisted of 14 placentas from fetuses ... | C16 |
5,768 | 7,921 | Topographic comparative study of magnetic resonance imaging and electroencephalography in 34 children with tuberous sclerosis.
A series of 34 children with confirmed tuberous sclerosis (TS) were studied prospectively by both EEG and magnetic resonance imaging (MRI) at ages ranging from 5 months to 18 years.
Size and ... | C16 |
5,769 | 4,821 | Current urinary mass screening for catecholamine metabolites at 6 months of age may be detecting only a small portion of high-risk neuroblastomas: a chromosome and N-myc amplification study.
We studied 96 infants and children with untreated neuroblastomas.
Chromosomes of tumor cells were analyzed in 68, and N-myc cop... | C16 |
5,770 | 2,498 | Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.
Gyrate atrophy (GA), a recessive eye disease involving progressive vision loss due to chorioretinal degeneration, is associated with the deficiency of the mitochondrial enzyme ornithine aminotransferase (OAT), with consequent hyperornithi... | C16 |
5,771 | 8,645 | Capillary haemangioma presenting as a lung pseudocyst.
A girl who developed a lung cyst at 24 hours of age during gentle ventilation for respiratory distress syndrome is reported.
Instead of resolving as expected of a pseudocyst it continued to expand.
Resection at 1 year of age showed a cyst entirely surrounded by ... | C16 |
5,772 | 847 | Skin pigmentation from clofazimine therapy in leprosy patients: a reappraisal.
Skin biopsy specimens from two lepromatous leprosy patients with dark brown pigmentation who were receiving long-term clofazimine therapy were studied.
Ceroid-lipofuscin pigment was demonstrated inside macrophages that contained numerous p... | C16 |
5,773 | 5,046 | Enveloping the bladder with displacement of flap of the rectus abdominis muscle for the treatment of neurogenic bladder.
Neurogenic bladder is a frequent occurrence.
A new surgical technique has been designed and was used successfully in 18 patients with ideal results.
The key point of the operation is to turn over ... | C16 |
5,774 | 3,661 | Clinical approach to prenatal detection of human structural defects.
Tremendous advances in prenatal diagnosis have allowed clinicians to recognize a variety of structural defects in the developing fetus.
Guidelines for fetal ultrasonography and an approach to fetal evaluation are outlined.
The developmental morphol... | C16 |
5,775 | 9,745 | Failure of acetabular autogenous grafts in total hip arthroplasty. Increasing incidence: a follow-up note.
We reported previously on the application of an autogenous femoral-head graft to the acetabulum during total hip arthroplasty for compensation of marked osseous deficiency in patients who had arthritis secondary ... | C16 |
5,776 | 4,772 | A distinctive triad of malformations of the central nervous system in the Meckel-Gruber syndrome.
A distinct triad of central nervous system (CNS) malformations (prosencephalic dysgenesis, occipital exencephalocele and rhombic roof dysgenesis) was present in seven cases of the Meckel-Gruber syndrome examined at autops... | C16 |
5,777 | 4,918 | Prenatal screening: when and for whom?
This report discusses the role of prenatal screening in preventing congenital abnormalities or, when prevention is not possible, in avoiding the conception or the birth of those who would have untreatable abnormalities.
Women who are found by screening not to be immune to rubell... | C16 |
5,778 | 6,461 | Cholesterol localization in ultrathin frozen sections in Schnyder's corneal crystalline dystrophy.
We examined a 57-year-old woman who had bilateral corneal crystalline deposits associated with xanthelasma.
The patient's son had bilateral stromal haze.
Plasma cholesterol and apolipoprotein A-I and B levels were norm... | C16 |
5,779 | 3,058 | Congenital myopathy and cardiomyopathy with identical ultrastructural changes.
A 7-day-old girl with congenital hypotonia and unexplained episodes of bradycardia had a broad spectrum of similar skeletal muscle and myocardial degenerative ultrastructural abnormalities.
Ultrastructural studies showed obliteration of cr... | C16 |
5,780 | 3,666 | Congenital heart defects in malformation syndromes.
This article presents a comprehensive review of the type and frequency of congenital heart defects found in malformation syndromes which have been categorized by etiology.
Certain cardiac phenotypes can be as helpful in identifying certain syndromes as can be seen w... | C16 |
5,781 | 2,810 | A five-year U.S. Army experience with 36,250 abdominal hernia repairs.
Thirty-six thousand two hundred fifty abdominal hernia repairs were performed in U.S.
Army medical treatment facilities during a five-year period.
This study presents data about the type of hernia, incidence of complications by obstruction or str... | C16 |
5,782 | 5,227 | Thirty-year follow-up of superior vena cava-pulmonary artery (Glenn) shunts.
The first superior vena cava-pulmonary artery shunt (Glenn shunt) in our series was performed in February 1958.
From then through September 1988, 91 patients have undergone this procedure for a wide variety of congenital defects.
We here re... | C16 |
5,783 | 3,422 | Possible involvement of the retinoblastoma gene in undifferentiated sinonasal carcinoma.
Retinoblastoma tumor formation is initiated by the loss of function of both alleles of the RB-1 gene on chromosome 13.
Patients with the hereditary form of retinoblastoma carry a germ line mutation at one of the two homologous ge... | C16 |
5,784 | 7,726 | Surgical resection of cor triatriatum in a 74-year-old man. Review of echocardiographic findings with emphasis on Doppler and transesophageal echocardiography.
A 74-year-old man was admitted to the hospital with congestive heart failure secondary to cor triatriatum.
He also had sick sinus syndrome with complete heart... | C16 |
5,785 | 7,746 | Hereditary cerebral haemorrhage with amyloidosis--Dutch type. Magnetic resonance imaging findings in 7 cases.
The clinical history and magnetic resonance imaging (MRI) findings are presented of 7 patients with hereditary cerebral haemorrhage with amyloidosis--Dutch type (HCHWA-D).
The diagnosis was based on clinical ... | C16 |
5,786 | 5,522 | Effect of maternal smoking and age on congenital anomalies.
The incidence of congenital anomalies was examined by the level of maternal and paternal smoking during pregnancy for 17,152 infants.
A multiple regression analysis was used to control for the possible confounding effects of maternal age, formal education, e... | C16 |
5,787 | 3,667 | Fetal abdominal abnormalities associated with genetic syndromes.
Sonographic technology has given the prenatal diagnostician the ability to accurately visualize fetal malformations.
This article demonstrates the currently available capability of applying sonographically derived information concerning fetal dysmorphol... | C16 |
5,788 | 8,658 | Effects of newborn screening of cystic fibrosis on reported maternal behaviour.
Screening for cystic fibrosis is highly controversial.
Concerns have been expressed that newborn screening may cause mothers, who had considered their child to be healthy before diagnosis, to overprotect their child.
Some critics of scre... | C16 |
5,789 | 5,274 | Child abuse of one of a pair of twins in Japan.
A nationwide survey in Japan on child abuse and neglect revealed that 10% of the victims were products of multiple births.
None of the victims who were singletons had multiple-birth siblings, and only in a few cases were both twins abused.
The findings indicated that o... | C16 |
5,790 | 9,033 | Neonatal ethics: development of a consultative group.
Experience of a neonatal ethics advisory group in a tertiary care setting was reviewed to identify which aspects of the experience have been most valuable in the development of a consultative group.
Consultations were requested for 31 patients seen from August 198... | C16 |
5,791 | 6,823 | Area of lateral ventricles measured on cranial ultrasonography in preterm infants: association with outcome.
The association between measurements of lateral ventricle area (determined by serial ultrasound scans) and outcome was studied in 70 preterm neonates of 33 weeks' gestation or less.
The study group was subdivi... | C16 |
5,792 | 6,824 | Spontaneous resolution of bone mineral depletion in preterm infants.
Fifteen preterm infants and 17 born at full term whose gestational ages ranged from 25 to 34 weeks and 38 to 42 weeks, respectively, were examined initially at postconceptional ages ranging from 38 to 44 weeks and subsequently at 46 to 71 weeks.
Eac... | C16 |
5,793 | 8,844 | Childhood pulmonary function following hyaline membrane disease.
Hyaline membrane disease per se is not associated with abnormal lung function or increased nonspecific airway reactivity in childhood or adulthood.
Very-low-birth-weight infants who survive almost routinely in neonatal ICUs are at risk, however, for dev... | C16 |
5,794 | 4,398 | Comparative value of transthoracic and transesophageal echocardiography in the assessment of congenital abnormalities of the atrioventricular junction.
Information obtained from transthoracic and transesophageal echocardiography (two-dimensional echocardiography with spectral Doppler and color flow imaging) was compar... | C16 |
5,795 | 858 | The many faces and phases of borreliosis II.
Borrelia burgdorferi, the etiologic agent of Lyme disease, has also been associated with other cutaneous conditions.
Acrodermatitis chronica atrophicans and lymphadenosis benigna cutis are also caused by B.
burgdorferi.
Recent evidence links some cases of progressive fac... | C16 |
5,796 | 6,849 | Correction of truncus arteriosus with truncal valvar stenosis or insufficiency using two homografts.
Surgical correction of truncus arteriosus requires the creation of right ventricular to pulmonary artery continuity and closure of the ventricular septal defect.
A variety of conduits have been used including valved a... | C16 |
5,797 | 5,228 | Options for surgical repair in hearts with univentricular atrioventricular connection and subaortic stenosis.
Thirteen patients have undergone surgical treatment because of subaortic obstruction in hearts with a univentricular atrioventricular connection.
Nine patients underwent surgical enlargement of the ventricula... | C16 |
5,798 | 7,595 | Parenchymal and vascular magnetic resonance imaging of the brain after extracorporeal membrane oxygenation.
Three-dimensional (volume) magnetic resonance angiography is a new and noninvasive method for imaging the intracranial vasculature.
The combination of magnetic resonance angiography and conventional magnetic re... | C16 |
5,799 | 4,735 | Cardiac pathology in 470 consecutive forensic autopsies.
Cardiovascular disease continues to be the single most common generic cause of sudden and unexpected deaths.
Atherosclerotic coronary heart disease and acute myocardial infarction are the most prevalent forms of fatal cardiac disease observed at autopsy.
Other... | C16 |
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