Abdominal distension after colonic lactulose fermentation recorded by a new extensometer.

Colonic lactulose fermentation induces bloating, but whether it also causes abdominal distension is not known. The aim of this study was to assess the effect of colonic lactulose fermentation on abdominal girth using a new extensometer. We recorded abdominal girth in 24 healthy subjects by means of an extensometer that measures the phase shift of an ultrasound wave propagating in a tube encircling the abdomen.

Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia.

Background: RSH/Smith-Lemli-Opitz syndrome is an autosomal recessive syndrome due to an inborn error of cholesterol metabolism and is characterized by developmental delay, facial anomalies, hypospadias, congenital heart defect (CHD), postaxial polydactyly, and 2-3 toe syndactyly. CHD is found in half of the propositi, and a specific association with atrioventricular canal defect (AVCD) and anomalous pulmonary venous return has been demonstrated.

Methods: We report on an additional patient with RSH/SLOS presenting with complete AVCD and anomalous pulmonary venous return, and discuss the possible relationship of the Sonic Hedgehog (SHH) pathway as causative factor of these CHDs and those in heterotaxia patients with postaxial polydactyly syndromes.

Spectrum of clinical variability in familial deletion 22q11.2: from full manifestation to extremely mild clinical anomalies.

The 22q11.2 deletion (del22q11.2) syndrome is a genetic condition with wide interfamilial and intrafamilial variability in clinical expression.

DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene.

The role of the 22q11 region genes, and among them TBX1, in nonsyndromic conotruncal defects (CTDs) is still unclear. Mice hemizygous at the Tbx1 locus show a remarkable incidence of heart outflow tract anomalies, of the same type commonly found in DiGeorge/Velo-cardio-facial syndrome (DGS/VCFS). Mutation analysis of the TBX1 gene in isolated, nonsyndromic CTDs has not demonstrated any functional pathogenetic variation so far.

Biased T-cell receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Chromosome 22q11.2 deletion (del22q11.2) syndrome (DiGeorge syndrome/velocardiofacial syndrome) is a common syndrome typically consisting of congenital heart disease, hypoparathyroidism, developmental delay and immunodeficiency.

Severe liver fibrosis or cirrhosis: accuracy of US for detection--analysis of 300 cases.

Purpose: To determine the accuracy of various ultrasonographic (US) signs for assessment of the degree of liver fibrosis, with histologic results as reference standard.

Materials And Methods: Three hundred consecutive asymptomatic patients with at least 6 months of increased levels of aspartate aminotransferase and/or alanine aminotransferase underwent liver US and biopsy. The estimated pretest probability of severe fibrosis or cirrhosis was 35%.

Are hospital characteristics associated with parental views of pediatric inpatient care quality?

Objective: Patient assessments of care are increasingly being considered an important dimension of quality of care. Few studies have examined the types and extent of problems identified by parents in the care of hospitalized children and whether hospital characteristics are associated with some of these problems. The objective of this study was to describe the quality of pediatric inpatient care as perceived by parents of hospitalized children and test whether hospital characteristics (academic status, market competition, freestanding children's hospital) are associated with variations in quality.

Evaluating process changes in a pediatric hospital medication system.

This article describes a process change designed to increase the safety of prescribing and interpreting complex order sets. All chemotherapy orders written for pediatric oncology patients at a major teaching hospital in the Eastern United States and the affiliated ambulatory clinic from June 1998 through February 2000 (n = 1792) were reviewed to evaluate a new process for communication of chemotherapy orders. The multidisciplinary check (MDC) is a forum where all disciplines simultaneously review and change complex order sets.

Outcomes after the Fontan procedure.

Over the past two decades, advances in congenital heart surgery, pediatric cardiology, and intensive care medicine have dramatically increased the survival of infants with critical congenital heart disease. The group of patients that has perhaps benefited the most from this progress has been the single-ventricle population. Staged palliation culminating in the Fontan procedure has resulted in a decreasing mortality rate and an increase in the number of single-ventricle survivors.

Comparative study of electronic vs. paper VAS ratings: a randomized, crossover trial using healthy volunteers.

The visual analogue scale (VAS) is an established, validated, self-report measure usually consisting of a 10 cm line on paper with verbal anchors labeling the ends. Palmtop computers (PTCs also known as personal digital appliances) have incorporated VAS entry by use of a touch screen. However, the validity and psychophysical properties of the electronic VAS have never been formally compared with the conventional paper VAS.

Further delineation of cardiac abnormalities in Costello syndrome.

We review the cardiac abnormalities in 94 patients (27 new, 67 literature) with Costello syndrome, an increasingly recognized syndrome consisting of increased birth weight, postnatal growth retardation, and distinctive facial, skin, and musculoskeletal features (MIM 218040). A cardiac abnormality was found in 59 (63%) patients, with each of three categories occurring in approximately one-third of patients. A cardiovascular malformation (CVM) was noted in 30%, typically pulmonic stenosis (46% of those with a CVM).

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition--characterized by lentigines and café au lait spots, facial anomalies, cardiac defects--that shares several clinical features with Noonan syndrome (NS). We screened nine patients with ML/LEOPARD syndrome (including a mother-daughter pair) and two children with NS who had multiple café au lait spots, for mutations in the NS gene, PTPN11, and found, in 10 of 11 patients, one of two new missense mutations, in exon 7 or exon 12. Both mutations affect the PTPN11 phosphotyrosine phosphatase domain, which is involved in <30% of the NS PTPN11 mutations.

Factors influencing immediate and long-term results after button's technique.

Background: Aim of this study was to evaluate the factors influencing immediate and long-term results in patients undergoing aortic root replacement with a composite graft.

Methods: Between January 1989 and February 1999, 105 patients (83 males, 22 females) who underwent Bentall technique were studied. Preoperative diagnosis was annulo-aortic ectasia in 54, aortic dissection in 27, atherosclerotic aneurysm in 21, and aortitis in 3 cases.

Parents' report of children's hospital care: what it means for your practice.

Purpose: To determine the aspects of nursing practice that are predictive of parent satisfaction with their child's hospitalization.

Method: A sample of 3,299 families whose children were hospitalized in a tertiary pediatric teaching hospital between 1995 and 1998 were surveyed. The survey covered their experiences during the child's hospitalization and their overall satisfaction with care.

Pulmonary atresia with intact ventricular septum and systemic-pulmonary collateral arteries.

Pulmonary atresia with intact ventricular septum and major systemic-pulmonary collateral arteries is a very rare congenital heart lesion with dismal natural history. Herein we report on a case of pulmonary atresia with intact ventricular septum with hypoplastic right ventricle, very small confluent pulmonary arteries, absent arterial duct, and pulmonary blood flow exclusively provided by bronchial-type systemic-pulmonary collateral arteries that was successfully treated at our institution.

Prediction of early and delayed postoperative deaths after coronary artery bypass surgery alone in Italy. Multivariate predictions based on Cox and logistic models and a chart based on the accelerated failure time model.

Background: The aim of the multicenter OP-RISK (OPerative RISK) study was to investigate the early (28 days) and delayed (365 days) death rates following coronary artery bypass grafting (CABG) among patients representing a nationwide distribution [Centers in Northern (2), Central (1) and Southern (1) Italy] and further to define the multivariate risk factors for the early and delayed mortality after CABG.

Methods: Data were collected from 1126 patients undergoing CABG alone. Data were analyzed using Cox and logistic regression models, to accurately assess the major factors influencing survival over time after CABG.

Expanding American Nurses Association nursing quality indicators to community-based practices.

Continuing its commitment to patient care quality, the American Nurses Association appointed a committee in 1997 to expand nursing-sensitive quality indicators beyond acute care. This article is the final report describing the processes used to identify a core set of community-based quality indicators relevant to nurses across the care continuum and identifies next steps. The indicator categories are (a) change in symptom severity, (b) strength of the therapeutic alliance, (c) utilization of services, (d) client satisfaction, (e) risk reduction, (f) increase in protective factors, and (g) level of function/functional status.

[Transposition of great arteries. Understanding its pathogenesis].

Transposition of the great arteries (TGA) is a frequent and severe cardiac defect. In patients with this malformation, diagnostic and surgical results and the long-term prognosis significantly improved in the last years. From the embryological point of view there are two main theories: 1) the anomalous infundibular rotation, and 2) the anomaly of the aortico-pulmonary septum.