A5032952741- Biomedical Research and Pathophysiology
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Metabolism and Genetic Disorders
- Prenatal Screening and Diagnostics
- Assisted Reproductive Technology and Twin Pregnancy
- Reproductive Biology and Fertility
- Birth, Development, and Health
- Reproductive Health and Technologies
- Neonatal Respiratory Health Research
- Folate and B Vitamins Research
- Ovarian function and disorders
- Neonatal and Maternal Infections
- Healthcare Policy and Management
- Pregnancy and preeclampsia studies
- Sperm and Testicular Function
- Electronic Health Records Systems
- Biochemical and Molecular Research
- Medical Coding and Health Information
- Peroxisome Proliferator-Activated Receptors
- Infant Development and Preterm Care
- Emergency and Acute Care Studies
- Healthcare Systems and Technology
- Sulfur Compounds in Biology
- Healthcare cost, quality, practices
California Department of Health Care Services
2014-2025
State of California
2022
Genetics and IVF Institute
1998-2020
Williams (United States)
2014-2015
Stanford University
2014
NewYork–Presbyterian Hospital
1971-2011
New York Hospital Queens
2006-2011
Cornell University
1971-2011
Presbyterian Hospital
2006-2009
Columbia University
2007
With a new method we measured the saturated very long chain fatty acids in plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls. hemizygotes showed increased levels hexacosanoate (C26 acid) which represented 0.081 2 0.0066% (SEM) total Fatty acids, compared to 0.015 ± 0.0032% C25, C24, C23 were also increased, but C22 C20 normal. C26 most with mean level 0.057 0.0063% acids. The technique can be used for diagnosis carrier identification, evaluation therapy.
In 2008, all 18 regional referral NICUs in New York state adopted central-line insertion and maintenance bundles agreed to use checklists monitor maintenance-bundle adherence report checklist use. We sought confirm whether adopting standardized using reduced central-line-associated bloodstream infections (CLABSI).This was a prospective cohort study that enrolled neonates with central line who were hospitalized any of NICUs. Each NICU reported CLABSI utilization data used χ(2) compare rates...
Abstract Cytogenetic data are presented for 11 473 chorionic villus sampling (CVS) procedures from nine centres in the U.S. NICHD collaborative study. A successful cytogenetic diagnosis was obtained 99.7 per cent of cases, with direct method only (26 cent), culture (42 or a combination both (32 cent). total 1.1 patients had second CVS amniocentesis procedure reasons related to diagnostic procedure, including laboratory failures (27 cases), maternal cell contamination (4 mosaic ambiguous...
We treated 93 children with nephropathic cystinosis oral cysteamine (mean dose, 51.3 mg per kilogram of body weight day) for up to 73 months. This agent is known be effective in depleting cells cystine. In our study, the mean cystine depletion from leukocytes was 82 percent. A historical control group 55 received either ascorbic acid (27 children) or placebo (28). At age six, 2 17 controls had a serum creatinine level less than 1.0 deciliter, as compared 27 patients at least one year (odds...
Perinatal obstetricians, surgeons, ultrasonographers, pediatricians, bioethicists, and physiologists from centers active in fetal treatment (13 5 countries) gathered at Santa Ynez Valley, California, July 19 to 23, 1982, for a conference hosted by the Kroc Foundation entitled "Unborn: Management of fetus with correctable congenital defect." Experimental clinical experience was intensively reviewed order assess potential benefits liabilities various interventions, directions be pursued,...
We studied the components of hepatic phenylalanine hydroxylating system in a child with phenylketonuria who showed substantial neurologic impairment despite early dietary control elevated blood levels. Phenylalanine hydroxylase, dihydropteridine reductase and dihydrofolate activities were normal. In contrast level hydroxylation cofactor, tetrahydrobiopterin, liver was only 10 per cent addition to this deficiency, serum urinary levels biopterin-like compounds low, biopterin did not increase...
When pregnant rats were fed a 50 percent galactose diet there was striking reduction in oocyte number the offspring. The most prominent effects noted after exposure to during premeiotic stages of oogenesis. Prenatal or its metabolites may contribute premature ovarian failure characteristic human galactosemia.
The administration of vitamin E (alpha-tocopherol) was found to improve polymorphonuclear leukocyte function in an infant with congenital deficiency glutathione synthetase activity. Before therapy the abnormal leukocytes exposed phagocytic challenge showed oxidant damage. They released 60 per cent more hydrogen peroxide than did normal leukocytes, iodinated only 20 25 number particles, and were unable kill bacteria as effectively although rates phagocytosis normal. These functional...
The world's first deliveries of normal babies after use flow cytometric separated human sperm cells (MicroSort) for preconception gender selection are reported. Offspring were the desired female in 92.9% pregnancies. Most these pregnancies and births achieved simple intrauterine insemination.
Human X- and Y-chromosome-bearing spermatozoa were separated based on their DNA content, using modified flow cytometric cell sorting technology. The resulting separation purity of the X-bearing from Y-bearing was evaluated in-situ hybridization with alpha satellite probes for Y-chromosomes. In putative X-enriched-sorted populations, an average 82% showed a signal X probe. Similarly, in Y-sorted population 75% gave Y Sorted found to maintain viability several hours after sorting. These...
S ummary . Several episodes of neutropenia were observed in a child with glutathione synthetase deficiency (5‐oxoprolinuria). Studies the patient's glutathione‐deficient neutrophils undertaken to examine responses cells oxidative stress associated phagocytosis. The contained 10–20% normal content. Circulating infection‐free periods appeared less mature than by morphologic criteria, suggesting increased cell turnover. ingested particles, responded chemotactic stimuli, and oxidized 1‐ 14 C...
Most neonates admitted to a neonatal intensive care unit (NICU) are born at gestational age (GA) of 34 weeks or more. The degree uniformity admission criteria for these infants is unclear, particularly the low-acuity end range conditions warranting admission.To describe variation in NICU rates GA more and examine whether such associated with high illness acuity designated facility level care.Cross-sectional study 35 921 inborn admissions during calendar year 2015, using population database...
<b>Objective</b> Develop length of stay prediction models for neonatal intensive care unit patients. <b>Study Design</b> We used data from 2008 to 2010 construct neonates admitted within 1 day age units and surviving discharge home. <b>Results</b> Our sample included 23,551 Median was 79 days when birth weight < 1,000 g, 46 1,500 21 2,500 8 ≥2,500 g. Risk factors longer varied by weight. Units with shorter one group had lengths other groups. <b>Conclusion</b> comparative assessments need...
We sought to identify whether and how the NICU antibiotic use rate (AUR), clinical correlates, practice variation changed between 2013 2016 attempted AUR ranges that are consistent with objectively determined bacterial and/or fungal disease burdens.In a retrospective cohort study of >54 000 neonates annually at >130 California NICUs from 2016, we computed nonparametric linear correlation compared AURs among years using 2-sample test proportions. stratified by level care participation in...
Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy (AMN) are related X-linked disorders characterized by adrenal, gonadal, nervous system dysfunction. While the pathologic finding common to these tissues appears be accumulation of excessive amounts very long chain fatty acids, mechanism leading functional impairment in is unclear. Measurements fluorescence polarization (P), using lipid probe diphenylhexatriene, demonstrate a highly significant increase microviscosity erythrocyte membranes...
Progesterone (P) production by isolated rat granulosa cells from preantral follicles was enhanced addition of androgens to the tissue culture medium. Testosterone (T) at 10(-7), 10(-6), and 10(-4)M as well 10(-6)M dihydrotestosterone (DHT) increased P 400 700% over paired control cultures. Human chorionic gonadotropin (100 mIU/ml) 17beta-estradiol (7.8 X 10(-10M) had no effect on production. identified both a specific radioimmunoassay sephadex LH-20 column chromatography. The stimulatory...
The observation that high-dose oral vitamin E supplementation (800 IU per day) improved red-cell survival in two rare disorders associated with increased susceptibility to oxidative stress prompted a similar trial 23 patients Mediterranean glucose-6-phosphate dehydrogenase (G6PD) deficiency. Three months of administration resulted decreased chronic hemolysis as evidenced by life span (P less than 0.025), an improvement half-life from 22.9 +/- 0.7 days 25.1 0.6 (mean S.E.M.), hemoglobin...
Cystinotic lysosome-rich leucocyte granular fractions, loaded with [35S]cystine, were exposed to different cystine-depleting agents. During a 30 min incubation at 37 degrees C, untreated cystinotic fractions lost negligible [35S]cystine when corrected for lysosome rupture. Granular 0.1 mM-cysteamine 64% of their initial cystine, and hexosaminidase activity was decreased by 10%. This accompanied the formation high concentrations [35S]cysteine-cysteamine mixed disulphide within...