Prenatal Diagnosis of Oculocutaneous Albinism by Electron Microscopy of Fetal Skin

Oculocutaneous albinism was diagnosed prenatally by electron microscopic examination of fetal skin samples taken during fetoscopy at 20 weeks of gestation. Melanosome development in hair bulb melanocytes progressed no further than stage II, indicating a lack of melanin synthesis. In 4 age-matched control fetuses, numerous stage IV melanosomes, signifying active melanin synthesis, were identified. The diagnosis was confirmed after the pregnancy was terminated at 22 weeks. Examination of the fetal eye showed absence of pigment in the retinal epithelium and uvea at a stage when ocular melanogenesis would normally be active. This study shows that oculocutaneous albinism can be detected in the second trimester using similar techniques to those employed in the prenatal diagnosis of epidermolysis bullosa and ichthyosis

Intensive care organisation: should there be a separate intensive care unit for critically injured patients?

In the last two decennia, the mixed population general intensive care unit (ICU) with a “closed format” setting has gained in favour compared to the specialized critical care units with an “open format” setting. However, there are still questions whether surgical patients benefit from a general mixed ICU. Trauma is a significant cause of morbidity and mortality throughout the world. Major or severe trauma requiring immediate surgical intervention and/or intensive care treatment. The role and type of the ICU has received very little attention in the literature when analyzing outcomes from critical injuries. Severely injured patients require the years of experience in complex trauma care that only a surgery/trauma ICU can provide. Should a trauma center have the capability of a separate specialized ICU for trauma patients (“closed format”) next to its standard general mixed IC

Long-term Quality of Life After Surgical Intensive Care Admission

Objectives: To quantify the long-term (> 6 years) health-related quality of life (HRQOL) of a large cohort of patients admitted to a surgical intensive care unit (ICU). In addition, we aimed to explore the influence of different surgical classifications on long-term health status and to make comparisons with general population norms. Design: Prospective observational cohort study. Setting: A Dutch teaching hospital. Patients: All surviving surgical ICU patients admitted to the Dutch teaching hospital between 1995 and 2000. Main Outcome Measures: Patient-reported data on HRQOL were collected with the EuroQol-6D (EQ-6D) after a mean follow-up of 8 years (range, 6-11 years). Patient characteristics, surgical classification, length of ICU stay, and survival were prospectively registered. The EQ utility scores (measured with the EQ-5D US index tariff), EQ visual analog scale scores, and prevalences of domain-specific health problems were calculated. The effect of surgical classification on EQ utility scores and EQ visual analog scale scores was assessed by multivariable generalized linear regression analysis. Logistic regression was used to explore the influence of surgical classification on domain-specific health problems. Long-term HRQOL of surgical ICU patients was compared with an age-and sex-matched general Dutch population using t test analysis. Results: Eight hundred thirty-four patients survived the ICU and were available for follow-up. In 575 patients (69%), the HRQOL was measured. For all surgical classifications combined, after 6 to 11 years, nearly half of all patients still had problems with mobility (52%), usual activity (52%), pain/discomfort (57%), and cognition (43%). Compared with the age-and sex-matched general population, HRQOL was worse, with a difference of 0.11 on the EQ utility score (range, 0-1). Oncological surgery patients had the best (EQ utility score, 0.83) and vascular patients had the worst (EQ utility score, 0.72) HRQOL. Trauma (odds ratio between 2.47-3.47) and vascular surgery (odds ratio between 2.27-5.37) patients showed significantly increased prevalences of problems in mobility, self-care, usual activities, and cognition. Conclusions: More than 6 years after a surgical ICU admission, HRQOL of this patient population is largely reduced. Many patients still have a variety of health problems, including decreased cognitive functioning. Treatment advances should be made to reduce the current health deficit of surgical ICU survivors compared with the general population