Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations.

Interstitial duplications of chromosomes 1p are rare, with only 14 cases previously reported in the literature, and those have not revealed a unique syndrome. The phenotypes include multiple congenital abnormalities and both intra- and extra-uterine growth retardation. In general, the patients do poorly and do not survive beyond the age of several months. We report a newborn male with karyotype 46, XY, inv dup(1)(qter--> p34.3::p34.3-->p32.3::34.3-->pter) with multiple congenital abnormalities including congenital heart disease and co-existing portal and pulmonary hypertension. The chromosome 1 origin of the extra material was confirmed with fluorescent in situ hybridization (FISH). Review of the GDB [Human Genome Database, 1990] reveals that the duplicated region includes the locus EDN2 that encodes endothelin-1, a potent vasoconstrictor, making genetic overdosage of this protein a likely etiology of the pulmonary hypertension. The diffuse abnormalities show effects in multiple cell lines and suggest that this region of chromosome 1p could be involved in determining cell migration and/or differentiation during organogenesis.

Subgaleal hematoma: the need for increased awareness of risk.

Subgaleal hematoma, also known as subaponeurotic hemorrhage, is a serious complication of birth that is associated with vacuum-assisted delivery. Despite a high rate of mortality associated with subgaleal hematoma, it has received relatively little attention in the medical literature. Lack of awareness may lead to delayed diagnosis and serious consequences for infants. This paper is a report of six cases and a literature review. Prevention and early recognition and treatment of the condition can occur only with increased practitioner awareness of this entity.

Furosemide pharmacokinetics following intratracheal instillation in the guinea pig.

Inhaled furosemide has been shown to attenuate bronchospasm in asthmatics and to increase lung compliance in infants with bronchopulmonary dysplasia (BPD). The reports involving BPD used a dose of 1 mg/kg and some have failed to show an effect with that dose. We determined the pharmacokinetics of furosemide administered directly to the airway in 7 young adult male guinea pigs who received intravenous and intratracheal doses of furosemide. Each animal received a 3 mg/kg i.v. bolus, 1, 3 and 6 mg/kg i.t. in 2 ml/kg normal saline and 3 mg/kg i.t. in 2 ml/kg bovine extract surfactant. Blood was sampled multiple times after each dose. The mean fraction of the intratracheal dose absorbed was 0.50-0.60 for all doses. Surfactant delayed the absorption of furosemide but did not alter the fraction absorbed.

Bedside polysomnography as an adjunct in the management of infants with Robin sequence.

Objective indications for tongue-lip adhesion in infants with Robin sequence have been lacking because of the difficulty in assessing the clinical significance of airway obstruction. In 1988, we began to use 20-hour, four-channel polysomnography to assist us in the management of infants with Robin sequence. The four channels included electrocardiogram, respiratory motion, airflow, and oxygen saturation. Infants demonstrating significant episodes of airway obstruction during sleep were recommended for tongue-lip adhesion. Fifteen infants with Robin sequence were evaluated during a 3-year period. Two babies were having severe, clinically obvious events on admission and underwent tongue-lip adhesion without polysomnography. Polysomnography was done on the other 13 infants. No significant events were seen in 7 infants, and they were discharged after a mean hospitalization of 8 days. Six studies documented significant airway obstruction, and tongue-lip adhesion was recommended. Follow-up polysomnography performed after successful tongue-lip adhesion failed to show any significant events, and the infants only required hospitalization for a mean of 12 days. We conclude that polysomnography is a useful adjunct in the management of infants with Robin sequence, providing objective indications for surgical intervention and shortening hospitalization.

Fibrin glue treatment of persistent pneumothorax in a premature infant.

Fibrin glue pleurodesis has been used to treat bronchopleural fistulas in adults. We report the successful use of fibrin glue in a premature infant to seal a pneumothorax that had persisted for more than 3 weeks despite high-frequency ventilation.

Breast-feeding problems and telephone consultation.

Parents and health care providers may have difficulty obtaining accurate and current information for the management of breast-feeding concerns. This study documents the types of problems that lead family members and health care professionals to seek telephone consultation from a breast-feeding service managed as an activity of a school of nursing faculty practice. During the 6-month study period, calls from 387 individuals (64% mothers and 31% health care providers) were received, for a mean of 64 calls per month. These calls required approximately 9.5 hours monthly to manage. Thirty-one percent of the calls were requests for general information (including stooling and urination or frequency and duration of breast-feeding); an additional 24% requested consultation from or referral to the service. Twenty-five percent of the calls resulted in a consultation with either the clinicians (9.9% inpatient; 9.6% outpatient) or referral to another health care professional (6%). Suggestions for pediatric nurse practitioner practice with breast-feeding mothers and babies were developed from the results of this clinical study.

Reduction of neonatal mortality after multiple doses of bovine surfactant in low birth weight neonates with respiratory distress syndrome.

To determine if outcomes of low birth weight neonates with respiratory distress syndrome can be improved by the administration of multiple doses of bovine surfactant, we conducted two identical multicenter, controlled trials, and the results were combined for analysis. Seven hundred and ninety-eight neonates weighing 600 to 1750 g at birth who had developed respiratory distress syndrome within 6 hours of birth were assigned randomly to receive either 100 mg of phospholipid/kg of Survanta, a modified bovine surfactant (n = 402), or a sham dosing procedure (n = 396). Neonates whose respiratory distress persisted could be given up to three more doses, with all doses to be given in the first 48 hours after birth. Dosing was performed by investigators not involved in the clinical care of the neonates; nursery staff were kept blinded as to the treatment assignment. Fewer Survanta-treated neonates died of any cause (18.4% vs 27.3%, P = .002), died of respiratory distress syndrome (9.0% vs 20.3%, P less than .001), and either died or developed bronchopulmonary dysplasia due to respiratory distress syndrome (51.2% vs 64.6%, P less than .001). Neonates who received Survanta also had greater improvement in their oxygenation and ventilatory status from baseline to 72 hours than did control neonates. Survanta-treated neonates were at lowered risk for developing pulmonary interstitial emphysema (18.6% vs 39.3%, P less than .001) and other pulmonary air leaks (11.5% vs 25.9%, P less than .001). We conclude that multiple doses of Survanta given after diagnosis of respiratory distress syndrome reduce mortality and morbidity.

Type A behavior in children: what a pediatric nurse practitioner needs to know.

Type A behavior has been shown in adults to be a predictor of heart disease equal in magnitude to cigarette smoking and cholesterol level. This article reviews current thinking on Type A behavior and its relationship to cardiovascular health. Particular emphasis is given to current literature about Type A behavior in adolescents, school-aged children, and preschoolers. Discussion covers the importance of the primary subcomponents of Type A behavior (i.e., competitiveness, hostility, and impatience). Clinical cautions and applications of this research are included.

Central venous silicone elastomer catheter placement by basilic vein cutdown in neonates.

There is a need for central venous access in small premature infants and other neonates when enteral feeding is not tolerated or is contraindicated. We placed 83 small (0.635-mm od) silicone elastomer catheters by basilic vein cutdown through a subcutaneous tunnel in 79 patients during a 12-month period. Thirty-five patients (44%) weighed less than 1,000 g. Each patient on whom the procedure was attempted had successful placement of a catheter, and they remained in place a mean of 20 days (range three to 82). Patients had a mean weight gain of 15 g per day of catheter use. Sixty-two catheters (75%) were removed electively, 13 (16%) secondary to complications, six (7%) because of patient deaths (none catheter related), and two (2%) were accidentally dislodged. Two episodes of catheter-related sepsis (0.12 episodes per 100 days of catheter use) caused by Candida albicans and Staphylococcus epidermidis were encountered. Other complications included one subclavian vein thrombosis, eight catheter occlusions, and two local arm inflammations. This technique proved to be a safe, easy, and inexpensive method to administer parenteral nutrition to neonates, especially those weighing less than 1,000 g.

Prevalence and distribution of gingivitis and dental caries in children aged 6-12 years in Brisbane primary schools.

A study of caries experience and gingivitis prevalence in 6-, 9- and 12-yr-old children attending primary schools in Brisbane was undertaken in November/December 1983. Children from high socioeconomic level (SEL) schools exhibited lower dmft and DMFT scores at all ages. At age 6 yr the proportion of children with caries-free primary dentitions was for high SEL Schools 70%, for middle SEL schools 52% and for low SEL Schools 23%. At 12 yr DMFT scores were 1.8 (high), 2.1 (middle) and 3.3 (low). Similar differences in gingivitis prevalence occurred, children from high SEL schools displaying a much lower proportion of bleeding sites than those from middle and low SEL schools. For selection of children at "high risk" to gingival disease for intensive prevention programmes, an increased emphasis on probing techniques is indicated to achieve diagnostic consistency.