Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.

We describe an A-to-G transition at nucleotide 10044 in the tRNA(Gly) gene of mitochondrial DNA in a sibship in which the proband died at age 8 years after a severe encephalopathy, a brother died of sudden and unexpected death, and the other six siblings had a combination of symptoms, including apparent life-threatening events and gastroesophageal reflux. This novel mutation was very abundant (> 90%) in liver and muscle of the proband and in several tissues, including blood, from his affected siblings (range 91-99%) but was less abundant in blood from the asymptomatic mother (88%) and maternal grandmother (85%). Our findings further enlarge the spectrum of clinical presentations associated with mitochondrial DNA mutations.

Congenital erosive and vesicular dermatosis with reticulated, supple scarring: a neutrophilic dermatosis.

Congenital erosive and vesicular dermatosis with reticulated, supple scarring is a rare disease seen at birth with blisters that become eroded and crusted and then heal with characteristic scars. We report the seventh case in the American literature, and the first description of biopsy specimens of early lesions. The acute skin lesions were characterized by sterile, neutrophilic infiltrates in the dermis.

CPR knowledge, self-efficacy, and anticipated anxiety as functions of infant/child CPR training.

STUDY OBJECTIVE: To determine the effect of infant/child CPR training on CPR knowledge, self-efficacy, and anticipated anxiety among parents of healthy infants/children. PARTICIPANTS: Parents (n = 36) undergoing a 4-hour training program in infant/child CPR at a tertiary-care hospital located in a suburb of a large metropolitan region and a control group of parents (n = 47) without CPR training were enrolled in the study. DESIGN: Two parallel forms developed specifically to assess the impact of infant/child CPR training on CPR knowledge, self-efficacy, and anticipated anxiety were independently evaluated for their psychometric characteristics before being administered to the parents with and without CPR training. The CPR-trained parents were requested to complete one form immediately before and the other 1 month after CPR training, and the control group completed the two forms over a 1-month interval. Estimates of the likelihood of infant/child CPR situations were also rated by the parents at the same times. Demographic data were obtained during administration of the second form. RESULTS: Self-efficacy had increased significantly and anticipated anxiety about CPR had decreased significantly 1 month after CPR training among CPR-trained parents, compared with controls. We found no significant changes in the CPR-trained parents' CPR knowledge or estimates of the likelihood of experiencing CPR situations over the 1-month interval on comparison with data from the controls. CONCLUSION: Community-based infant/child CPR training programs affect parents on a variety of levels but may not effect changes in CPR knowledge.

Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns.

Two phenotypically abnormal liveborns in whom trisomy 16 mosaicism was diagnosed prenatally by amniocentesis are described. Analysis of a percutaneous umbilical blood sample in one case revealed a normal chromosomal complement. Ultrasound examinations performed at the time of amniocentesis were normal. Serial sonography during the late second and third trimesters demonstrated progressive intrauterine growth retardation (IUGR) in both fetuses and a cardiac defect in one. At birth, both infants had dysmorphic features and multiple congenital anomalies. Trisomy 16 mosaicism was confirmed postnatally in both infants in skin fibroblasts; however, peripheral blood samples contained only chromosomally normal cells. The two mosaic trisomy 16 cases described in this report, together with the five confirmed cases reported previously, demonstrate the need for caution in the counselling of patients when trisomy 16 mosaicism is diagnosed prenatally in amniotic fluid samples. Such cases potentially can result in the birth of dysmorphic infants with significant birth defects, growth retardation, and possible developmental disabilities.

Tracheostomy: acute and long-term mortality and morbidity in very low birth weight premature infants.

Thirty-six very low birth weight premature infants (VLBW-PT) born at 24 to 32 weeks gestation and with birth weights 635 to 1,360 g who had tracheostomies performed for acquired subglottic stenosis or for prolonged mechanical ventilation were followed in relation to acute and long-term mortality and morbidity. Mortality due to the tracheostomy occurred in 4 patients (11%); mortality from all other causes was 25%. Death after hospital discharge was associated with the nonuse of prescribed cardiorespiratory monitors. Complications < 1 week postsurgery occurred in 31% of infants and complications > or = 1 week postsurgery occurred in 64% of infants. Fifty percent of infants required tracheostomy for > 2 years and/or extensive reconstructive surgery of the airway. Parents should be counselled that VLBW-PT infants with a tracheostomy may require extended medical and home care. An effective home care program requires parental training in tracheostomy care, the use of ancillary equipment, and infant cardiopulmonary resuscitation.

Pulmonary mechanics and gas exchange: effect of lateral positioning during recovery from respiratory distress syndrome.

Sixteen stable intubated premature infants without a clinically significant patent ductus arteriosus were studied during recovery from respiratory distress syndrome in order to determine the effects of left and right lateral, as compared to supine, positioning. Pulmonary mechanics were measured for spontaneous breaths 5 and 15 minutes after positioning, and arterial blood gases 15 minutes after positioning. Infants were randomized to 1 of 2 position sequences: (1) supine, left, supine, right or (2) supine, right, supine, left. No significant differences were detected between positions for dynamic compliance, tidal volume/kg, and total, inspiratory and expiratory pulmonary resistance. Likewise, no significant differences in PaO2 or PaCO2 were detected between the positions. The sequence of positions did not affect the pulmonary mechanics of spontaneous breaths or arterial blood gases. This suggest that short-term lateral positioning as well as supine positioning can be utilized without deleterious effects on pulmonary mechanics and gas exchange in neonates recovering from respiratory distress syndrome.

Polymorphonuclear leukocyte function in the preterm neonate: effect of chronologic age.

In this study, effect of chronologic age on polymorphonuclear leukocyte (PMN) chemiluminescence and random and chemotactic motility was evaluated in 38 stable preterm neonates of less than 32 weeks' gestation during the first month of life. Chemiluminescence and random and chemotactic motility of PMNs from preterm neonates were first evaluated at mean postnatal age of 9.8 days and then weekly for an ensuing 21-day period. For comparison, one blood sample was obtained for PMN functions from 14 healthy term neonates younger than 72 hours of age and seven normal adults. On day 1 PMN chemiluminescence and random and chemotactic motility values in preterm neonates were significantly lower (P less than .001) compared with those in term neonates and PMN function values of term neonates were significantly lower (P less than .001) than those of adults. Although initial PMN chemiluminescence and random and chemotactic motility values in preterm neonates were depressed, subsequent values on days 7, 14, and 21 increased significantly (P less than .002). On day 21 (mean postnatal age of 30.8 days) no differences existed in chemiluminescent activity and random motility between preterm and term neonates; chemotactic motility in preterm neonates, however, remained impaired. Mean cumulative age (gestational age at birth plus postnatal age) of preterm neonates on day 21 of study was 32.5 weeks, suggesting that chronologic age has more effect on maturational changes in PMN functions than gestational age.

Monozygotic twins with trisomy 18: a report of discordant phenotype.

The predicted incidence of liveborn monozygotic trisomy 18 twins is one per million births. The first case of liveborn monozygotic trisomy 18 twins was reported in 1989 and we report a second case in which striking phenotypic discordance existed. The probability of monozygotic trisomy 18 twinning and the mechanisms for phenotypic discordance in trisomic twins is discussed.

Effect of PEEP on regional ventilation and perfusion in the mechanically ventilated preterm lamb.

Improvement of gas exchange through closer matching of regional ventilation (V) and lung perfusion (Q) with the application of positive end-expiratory pressure (PEEP) was evaluated in vivo in six mechanically ventilated preterm lambs (107-126 days/145 days gestation). Changes in V and Q were determined from in vivo scintigraphic measurements in four lung regions with inhaled radioactive 81mKr, and infused 81mKr/dextrose and/or [99mTc]MAA as PEEP was applied at 2, 4, and 6 cm H2O in each animal. Dynamic compliance varied between 0.02 and 0.40 ml/cm H2O, which was consistent with surfactant deficiency. As PEEP was increased, the regional distribution of Q shifted from the rostral to the caudal lung regions (p less than 0.02 to less than 0.05), while that of V remained unchanged. Regional V/Q matching improved together with a trend towards improvement of arterial blood gases as PEEP was increased from 2 to 4 cm H2O. Pulmonary scintigraphy offers a noninvasive methodology for the quantitative assessment of regional V and Q matching in preterm lambs and may be clinically applicable to ventilated neonates.