11 research outputs found

    Mutations in the Rod Domain of Keratin 2E in Patients with Ichthyosis Bullosa of Siemens

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    Ichthyosis bullosa of Siemens (IBS) is an autosomal dominant skin disorder that resembles epidermolytic hyperkeratosis (EHK). We have indentified mutations in two families originally diagnosed with EHK and in four families diagnosed with IBS at the same codon in the highly conserved carboxy terminal of the rod domain of keratin 2e, thus revealing a mutational hot spot. Our results allow a differential diagnosis to be made between IBS and EHK at the genetic level and we suggest that patients diagnosed with EHK, but lacking keratin K1 or K10 mutations, should be re-examined for mutations in their K2e genes

    sj-docx-1-cpj-10.1177_00099228231191924 – Supplemental material for The Use of Standardized Solutions Instead of Individualized Prescriptions for Parenteral Nutrition on the Neonatal Intensive Care Unit in UZ Brussel: A Feasibility Study

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    Supplemental material, sj-docx-1-cpj-10.1177_00099228231191924 for The Use of Standardized Solutions Instead of Individualized Prescriptions for Parenteral Nutrition on the Neonatal Intensive Care Unit in UZ Brussel: A Feasibility Study by Melanie Batteux, Garmt Meers, Bockstal Fien, Pieter-Jan Cortoos and Filip Cools in Clinical Pediatrics</p

    sj-pdf-2-pmj-10.1177_02692163221076365 – Supplemental material for Barriers and facilitators for parents in end-of-life decision-making for neonates at the Neonatal Intensive Care Unit: A qualitative study

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    Supplemental material, sj-pdf-2-pmj-10.1177_02692163221076365 for Barriers and facilitators for parents in end-of-life decision-making for neonates at the Neonatal Intensive Care Unit: A qualitative study by Veerle Piette, Laure Dombrecht, Luc Deliens, Filip Cools, Kenneth Chambaere, Linde Goossens, Gunnar Naulaers, Sabine Laroche, Luc Cornette, Eline Bekaert, Pauline Decoster, Kim Beernaert and Joachim Cohen in Palliative Medicine</p

    sj-pdf-1-pmj-10.1177_02692163221076365 – Supplemental material for Barriers and facilitators for parents in end-of-life decision-making for neonates at the Neonatal Intensive Care Unit: A qualitative study

    No full text
    Supplemental material, sj-pdf-1-pmj-10.1177_02692163221076365 for Barriers and facilitators for parents in end-of-life decision-making for neonates at the Neonatal Intensive Care Unit: A qualitative study by Veerle Piette, Laure Dombrecht, Luc Deliens, Filip Cools, Kenneth Chambaere, Linde Goossens, Gunnar Naulaers, Sabine Laroche, Luc Cornette, Eline Bekaert, Pauline Decoster, Kim Beernaert and Joachim Cohen in Palliative Medicine</p

    Simulated morphine plasma concentrations of the proposed dosing regimen of 5 μg/kg/h after loading dose of 50 μg/kg.

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    Solid line indicates the mean morphine plasma concentration; gray area represents the 95% prediction interval. Dotted horizontal lines indicate the proposed therapeutic window of 10–40 μg/L. Solid vertical lines indicate the start and end of TH (33.5°C) simulated between 5h and 77h after birth; dashed vertical line indicates the return to normothermia (36.5°C) with rewarming simulated at 0.4°C/h; TH = therapeutic hypothermia.</p
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