Iron supplementation in preterm infants treated with erythropoietin]

Anemia in premature infants can be prevented by prophylactic treatment with recombinant human erythroprotein (r-huEPO). r-HuEPO as been used for a long time in patients with end-stage renal failure. The main factor which can limit r-HuEPO efficiency is limited iron bioavailability. Adapted iron supplementation is needed when preterm infants receive r-HuEPO in order to avoid the depletion of iron stores. Oral iron supplementation is simple but indigestibility is frequent. Furthermore, the intestinal absorption and utilization of oral iron is limited. Parenteral iron supplementation is possible in infants who are very pre-term as they are parenterally fed during the first weeks of life. There are various preparations of intravenous iron with different physicochemical properties. Toxicity and side-effects of parenteral iron preparations depend on these properties. Two parenteral iron preparations are available in France: iron-saccharate (Venofer) and iron-dextrin (Maltofer). Iron delivery and possible side-effects of these preparations are different and need to be considered before use in preterm infants.     

Timing and nature of reconstructive surgery for disorders of sex development – Introduction

The ideal timing and nature of surgical reconstruction in individuals with Disorders of Sex Development (DSD) is highly controversial. Despite the increasing number of publications on this topic, evidence-based recommendations still cannot be made. However it is generally accepted that optimal care for DSD requires an experienced multidisciplinary team. This means that surgical decisions are now made within the context of a multidisciplinary team and all members of the team – and not just specialist surgeons – may be called upon to discuss choices for surgery with patients and parents. To do this well, every clinician in the team should have an understanding of the range of techniques available for genital surgery, the risks and benefits of procedures and the controversies surrounding timing of surgery.The aim of this paper is to give an overview of the variety of surgical procedures in current use and in what situation a particular technique would be indicated. The short-term risks and benefits are described and where available long-term outcome data is discussed. To date, discussions surrounding genital surgery have been led primarily by surgeons. Some non-surgical clinicians have expressed unease about decision making in genital surgery but have felt ill equipped to comment on an area with which they are unfamiliar. This review gives a detailed explanation of current surgical practice offered in a specialized center for DSD and such information should facilitate a more balanced discussion.     

Neonatal hair analysis for benzoylecgonine: a sensitive and semiquantitative biological marker for chronic gestational cocaine exposure.

Hair analysis for the major metabolite of cocaine, benzoylecgonine (BZE) was performed in a cohort of 251 predominantly African-American newborns utilizing a modified radioimmunoassay (RIA) (Abuscreen Roche Laboratories, Nutley, N.J., USA). Maternal drug intake was confirmed by positive urine drug screen for cocaine metabolites at the time of delivery. The BZE concentrations reported here are the composites of both the parent compound cocaine (hydrolyzed to BZE) and the native BZE metabolized by the patient and deposited in the hair follicle. Hair analysis as an indicator for gestational cocaine exposure had a sensitivity of 88%, specificity of 100%, positive predictive value of 100%, and negative predictive value of 85%. The range of BZE was 99-23,300 ng/g of hair, with 79% having hair BZE levels <5,000 ng/g of hair. The BZE RIA was confirmed by gas chromatography and mass spectrometry (GC/MS). Of the 18 mother/infant pairs tested, the hair BZE ratio (maternal to neonatal) varied from 0.5 to 8.9 in 13 pairs. In spite of maternal high hair BZE levels, 5 newborns had no evidence of hair BZE, stressing the importance of the placental role for the cocaine transfer to the fetus. After controlling for gestational age, higher BZE levels significantly correlated with smaller head circumference (p < 0.03) and birth weight (p < 0.01).     

A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ibα associated with a variant of Bernard-Soulier syndrome (Nancy I)

Summary. Leucine-rich repeats are conserved structural motifs present in the four components of the human platelet glycoprotein Ib/IX/V complex receptor for the adhesive protein von Willebrand factor. The absence or abnormality of this complex is responsible for Bernard-Soulier disease, an autosomal recessive bleeding disorder. We report a deletion of leucine 179, located in a highly conserved position of the seventh leucine-rich repeat of GPIbα, found in a variant form of Bernard-Soulier disease (Bernard-Soulier Nancy I). Three affected siblings of a family were characterized by absence of ristocetin-induced platelet agglutination, although ADP aggregation was normal. Flow cytometry studies showed detectable amounts of all four members of the GPIb/IX/V complex on the surface of the patients' platelets. Western blotting revealed normal levels of GPIX, decreased levels of GPIbβ and GPV, and <1% of GPIbα. RT-PCR studies showed the presence of mRNA coding for GPIbα. GPIbβ, GPIX and GPV. Sequencing showed a three-base deletion which results in the absence of a leucine residue, highly conserved across the seven leucine-rich repeats of GPIbα and also within the other members of the leucine-rich glycoprotein family. The absence of the leucine 179 in a patient's GPIbα is believed to cause a conformational change in the protein which would account for the lack of binding of most of the MoAbs tested and would be responsible for the absence of von Willebrand factor binding. These results point to the leucine-rich region of GPIbα as being required for the correct exposure of the von Willebrand binding site as well as for the correct assembly and stability of the GPIb IX V complex on the platelet surface.