Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.

Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.

Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.

Measured and predicted total body water in children with myelomeningocele.

Objective: Children with myelomeningocele (MMC) have an altered body composition and an atypical distribution of total body water (TBW). The aim of the present study was to determine the accuracy of current predictive equations, based on bioelectrical impedance analysis (BIA), in determining TBW when compared with measured TBW using deuterium dilution.

Methods: Fourteen children with MMC were measured for whole body BIA and TBW (using deuterium dilution and the Plateau method).

Resting energy expenditure and body composition in children with myelomeningocele.

Purpose: Myelomeningocele is a complex disease often complicated by obesity for reasons not well understood. The objectives of this study were to determine body composition and energy expenditure of children with MMC.

Methods: Resting energy expenditure (REE), body composition and anthropometry were measured in 19 children with MMC (12 M, 7 F).

Comparison of measured sleeping metabolic rate and predicted basal metabolic rate during the first year of life: evidence of a bias changing with increasing metabolic rate.

Objective: To compare measurements of sleeping metabolic rate (SMR) in infancy with predicted basal metabolic rate (BMR) estimated by the equations of Schofield.

Methods: Some 104 serial measurements of SMR by indirect calorimetry were performed in 43 healthy infants at 1.5, 3, 6, 9 and 12 months of age.

Resting energy expenditure of children attending a rehabilitation programme following head injury.

Statement Of Purpose: Increased resting energy expenditure following head injury is well documented, but whether this increase extends into rehabilitation and whether this is affected by changes in body composition have not been studied. The aim of this study was to determine whether children attending a rehabilitation program following head injury had altered energy expenditure and body composition.

Methods: Measurements of resting energy expenditure by indirect calorimetry were performed in 21 head injured children (mean age 10.

Value of total body potassium in assessing the nutritional status of children with end-stage liver disease.

Malnutrition is a common problem in children with end-stage liver disease (ESLD), and accurate assessment of nutritional status is essential in managing these children. In a retrospective study, we compared nutritional assessment by anthropometry with that by body composition. We analyzed all consecutive measurements of total body potassium (TBK, n = 186) of children less than 3 years old with ESLD awaiting transplantation found in our database.

Reduced body cell mass following severe head injury in children: implications for rehabilitation.

Statement Of Purpose: Increased proteolysis, muscle catabolism and altered body composition have been well documented after severe head injury, but the extent of these effects in children, and whether they extend into rehabilitation, have not been studied. This study determined nutritional status and body composition, with particular reference to the body cell mass (BCM), of head injured children at entry into a rehabilitation programme, and compared body composition analysis with anthropometric nutritional assessment.

Methods: Nineteen head injured children (nine males, 10 females, mean age 9.

The sleep patterns of infants and young children with gastro-oesophageal reflux.

Objective: Sleep disturbance in gastro-oesophageal reflux disease (GORD) in infants and young children has not been systematically studied nor has this manifestation been compared with population norms.

Methods: Sleep patterns of 102 infants and children aged 1 to 36 months with and without GORD, defined by pH monitoring, were analysed using the same questionnaire as in recent studies of normal sleep behaviour in this age range. Main outcome measures included time taken to settle at night, the number of night time wakenings requiring parental intervention, day time sleep patterns and parents problems with their childs' sleep behaviour.

Lack of sensitivity of weight targets compared with body cell mass for determining recovery from malnutrition in adolescents with anorexia nervosa.

Objective: Using body weight targets to assess recovery from malnutrition in adolescents with anorexia nervosa (AN) may lead to premature discontinuation of refeeding programs. We examined body cell mass (BCM) to determine nutritional recovery, comparing with conventional indices based on weight.

Method: Body mass index (BMI), Z-score, percentage of ideal body weight (IBW), and BCM (by total body potassium) were studied in adolescent females with AN (n = 92).

Comparison of effects of adrenalectomy and RU-486 in rats given a choice of maintenance diet and fat supplement.

The effects of adrenalectomy (ADX) and the blockade of glucocorticoid receptors by RU-486 on Sprague-Dawley rats given a choice of a maintenance diet and a fat supplement were studied. Adult male rats were given free access to AIN-76A diet only (CON) or AIN-76A diet and a separate dietary fat option for 4 wk (FAT). They were then assigned to one of the following treatments: ADX, sham operation, ADX with corticosterone (CORT) replacement, RU-486 injections, or vehicle injections.

An evaluation of the use of total body electrical conductivity for the estimation of body composition in adult rats: effect of dietary obesity and adrenalectomy.

Total body electrical conductance (TOBEC) has been recommended for serial measurements of body composition in animals and humans. This study examined the accuracy of the TOBEC technique in predicting body composition of a population of adult male rats that had undergone seven different treatments, including adrenalectomy and blocking of glucocorticoid receptors, in the study of the etiology of obesity. The predicted body composition values of the animals (n = 57, body weight 550 +/- 8 g) obtained by using the manufacturer's and Baer's equations were compared to the actual body composition obtained by direct carcass analysis.

A longitudinal study of urinary calcium, magnesium, and zinc excretion in lactating and nonlactating postpartum women.

Postpartum lactating (n = 12) and nonlactating (n = 11) women and never pregnant women (n = 14) collected urine samples and diet records 2 d each month for 6 mo to determine whether postpartum women conserved urinary calcium, magnesium, or zinc. Mean daily excretions were analyzed by repeated-measures analysis of variance and covariance to assess group and time effects. Lactating women excreted less urinary calcium (1-6 mo) than never pregnant (n = 8) and nonlactating (n = 4) women who did not use oral contraceptives (P < 0.

Evaluation of early enteral feeding in children less than 3 years old with smaller burns (8-25 per cent TBSA).

Early enteral feeding and high protein nutrition have been advocated for burned patients. The safety and efficacy of early high protein nasogastric feeding (NG) have not been evaluated in very young children. The present study evaluated such feeding in children less than 3 years old with smaller burns (8-25 per cent of total body surface area).

Protracted infusion of 5-FU with weekly low-dose cisplatin as second-line therapy in patients with metastatic colorectal cancer who have failed 5-FU monotherapy.

Forty four patients who had documented progression of metastatic colorectal cancer while receiving 5-fluorouracil (5-FU) monotherapy were treated with continuous infusion 5-FU, 300 mg/mg2/day, plus weekly low-dose cisplatin, 20 mg/m2. Treatment was given in 12-week cycles, consisting of 8 weeks of chemotherapy followed by a 4-week rest period, and was well tolerated. Three of 23 patients (13%) who had failed bolus 5-FU but not been exposed previously to infusional 5-FU responded.

Effect of vitamin A in enteral formulae for burned guinea-pigs.

A burned guinea-pig model (30 per cent body surface area) was used to study the effects of dietary vitamin A. Sixty-five female guinea-pigs were infused enterally via gastrostomy feeding tubes with identical formulate (175 kcal/kg/day, 20 per cent of calories as protein) containing varying amounts of vitamin A. Groups I, II, III and IV received formulae containing 0, 10,000 iu (approximately equivalent to the guinea-pigs' RDA), 50,000 iu (5 x RDA) and 250,000 iu (25 x RDA) of vitamin A per litre, respectively.

Prevention of yeast translocation across the gut by a single enteral feeding after burn injury.

Recently, burn injury has been shown to facilitate the ability of enteric Candida albicans (CA) to penetrate the gut epithelium and translocate to the mesenteric lymph nodes (MLN) during the first 24 hr after injury. Guinea pigs were given 3 X 10(10) CA intragastrically before inflicting a 50% burn to determine if a single enteral feeding could affect CA translocation to the MLN. A bolus infusion (20 kcal/kg, 12 ml in volume) of liquid meal, consisting of 68% carbohydrate, 20% protein, and 12% lipid, was administered either at 3-hr or 12-hr postburn.

Increased gut blood flow with early enteral feeding in burned guinea pigs.

The hemodynamic responses to early enteral feeding were assessed with fluid-resuscitated, 30% total body surface area-burned guinea pigs fed by means of tube gastrostomies. Regional blood flow and cardiac output were determined by a reference sample method, injecting 15 microns radiolabeled microspheres. During the initial 24 hours after burn injury, animals were given the same volume by continuous infusion of either lactated Ringer's solution (LR group) or a liquid diet (20% protein, 12% lipid, and 68% carbohydrate; 175 kcal/kg/24 hr) (diet group).

Carnitine supplementation vs. medium-chain triglycerides in postburn nutritional support.

The effect of dietary supplementation of carnitine on protein metabolism was studied in a burned guinea-pig model. Animals bearing a 30 per cent total body surface area burn were enterally infused with three isocaloric and isonitrogenous diets via gastrostomy feeding tubes for 14 days. Two diets contained safflower oil (long-chain triglycerides, LCT) and another diet contained medium-chain triglycerides (MCT) as their lipid sources (30 per cent of total calories as lipid).

Candida albicans translocation across the gut mucosa following burn injury.

Normal guinea pigs were challenged intragastrically with Candida albicans 1 hr prior to a 30 or 50% flame burn to determine if burn injury increased translocation of the yeasts across gut mucosa. Tissues were harvested between 3 and 24 hr postburn and cultured on Sabouraud dextrose agar. Control animals (no yeast challenge) showed no yeast in intestinal homogenates or in the mesenteric lymph nodes (MLN).

Effects of fish oil on postburn metabolism and immunity.

The metabolic effects and immune responses of different levels of fish oil in enteral formulas for postburn nutritional support were studied. Thirty-seven burned guinea pigs with previously placed gastrostomy feeding tubes were given diets containing 5, 15, 30, or 50% of nonprotein calories as fish oil. These diets were isonitrogenous, isocaloric, and contained identical amounts of vitamins and minerals.

Lack of effect of enteral antibiotics on the post-burn hypermetabolic response.

Burn patients who survive the initial 24 h following major burn injury commonly develop a marked hypermetabolism. One of the possible mechanisms of this increased metabolic rate is gut translocation of bacteria and endotoxin following burn injury. We attempted to decrease the hypermetabolism by administering various antibiotic and endotoxin binding agents enterally in a burned guinea-pig model.