Showing papers by "David Reich published in 2003"

Quality and completeness of SNP databases.

Abstract: To address the quality and completeness of single-nucleotide polymorphism (SNP) databases, we resequenced 173 kb (spanning 17 loci) in 150 chromosomes of west African and European ancestry. Over 88% of SNPs in the public (TSC and BAC overlap) and Celera databases were confirmed in independent resequencing. Approximately 45% of all human heterozygosity is attributable to SNPs already available from the two databases, and of SNPs with minor-allele frequencies >10%, more than half are represented.

Fungal infections in solid organ transplant patients.

Abstract: Background: Solid organ transplantation is becoming increasingly more common in the treatment of end-stage organ failure. Opportunistic fungal infections are a frequent life-threatening complication of transplantation. Materials and Methods: In this article, a review of the infections in the different organ transplant recipients is presented. Results: The incidence of fungal infections in organ transplant patients ranges from 2% to 50% depending on the type of organ transplanted, kidney recipients being the least frequent and liver recipients having the highest rate of infection. New antifungal medications and immunosuppressants have changed the spectrum of fungal treatment and prevention. Conclusion: Prompt recognition and treatment of infection is imperative for successful therapy. Further advancements in early detection and the development of less toxic medications will lead to refinements in the treatment of fungal infections.

Neonatologists are using much less dexamethasone

Abstract: Two historical cohorts (1993-1994 and 2001) of preterm infants ventilated for respiratory distress syndrome were compared. Dexamethasone administration fell from 22% to 6%. Chronic lung disease in survivors rose slightly from 13% to 17%, and mortality fell from 21% to 15% (other causes). The effect of restriction of dexamethasone use on chronic lung disease and mortality remains to be seen.

Urine polymerase chain reaction as a screening tool for the detection of congenital cytomegalovirus infection

Abstract: Objectives: To define the incidence of congenital cytomegalovirus (CMV) infection in a defined population in Israel as diagnosed by urine polymerase chain reaction (PCR), and to assess the utility of this method for screening for congenital CMV infection. Design: A convenient sample of urine specimens from asymptomatic newborns were subjected to CMV PCR. Positive results were validated by urine tube culture and by determination of serum CMV IgM antibodies. Maternal CMV IgG was determined in a representative sample of mothers. Newborns with positive urine specimens underwent full clinical evaluation. Epidemiological characteristics of the mothers were extracted from the medical records. Settings: Two medical centres in Israel with different population characteristics. Patients: A total of 2000 newborns (1000 in each medical centre). Main outcome measure: Presence of CMV DNA in the urine. Results: Despite significant epidemiological differences between the populations in the two hospitals, the CMV seroprevalence was similar, 80.5% and 85%. Fourteen of the 2000 newborns screened (0.7%) were PCR positive. Urine culture was positive in nine of 10 specimens; IgM was positive in only two of 13 newborns with positive PCR. Eleven newborns underwent full or partial evaluation, and only one (9%) was symptomatic. Conclusions: The incidence of congenital CMV infection in the study population was 0.7%; over 90% were asymptomatic. Urinary CMV PCR is a reliable, rapid, and convenient method, and thus may serve as a screening tool for the detection of congenital CMV infection.

[Tolerability of once-daily-dosing of intravenous gentamicin in preterm neonates born at 32-37 weeks of gestation].

Abstract: OBJECTIVE Gentamicin is an important factor in the empiric therapy of premature babies with suspected invasive bacterial infection. The aims of the study were to assess the tolerability of short course of gentamicin in preterm neonates. PATIENTS AND METHODS Preterm neonates aged 24 hours or less who were born at 32-37 weeks of gestation and weighed over 1500 grams were included in the study. Those infants suspected of having invasive non-CNS bacterial infection were assigned to treatment with ampicillin 50 mg/kg twice daily and either ODD (once daily dosing) or twice daily dosing (TDD) of gentamicin 5 mg/kg/day (17 and 18 patients, respectively). Neonates with shock, impaired renal function and known kidney, ear, and heart malformations, and metabolic disease were excluded from the study. At 72 to 96 hours of therapy, serum and urine creatinine, and sodium concentrations, peak (PGt) and though (TGt) serum levels of gentamicin, and urinary lysosyme secretion were measured. Fractional excretion of sodium (FeNa), and glomerullar filtration rate (GFR) were calculated for each infant. Audiometric evaluation was performed at 1 to 2 months of age. RESULTS For the ODD and TDD groups respectively, the values of serum creatinine, FENa, GFR, and urinary lyzozim were similar. The mean SD PGt levels were 9.9 +/- 4.6 vs 5.9 +/- 1.9 g/ml (p < 0.04), and that of the TGt levels was 1.55 +/- 0.55 vs 2.4 +/- 0.9 micrograms/ml (p = 0.028), Ten (55.6%) vs 3(23.1%) of the TDD and ODD groups respectively had TGt levels above 2 micrograms/ml (p = 0.035). Audiometric evaluation was normal in all infants. CONCLUSIONS Short course of ODD of gentamicin could be safe and potentially more effective in preterm babies.