Publications by authors named "Mook M"

Article Synopsis
  • The study identifies biallelic loss-of-function variants in the SMPD4 gene as the cause of a severe neurodevelopmental disorder that leads to progressive microcephaly and early death, characterized by significant long-term complications like insulin-dependent diabetes.
  • SMPD4 encodes a sphingomyelinase that plays a crucial role in maintaining lipid balance in cell membranes, particularly at the nuclear envelope, affecting cell proliferation and division.
  • Research indicates that the lack of SMPD4 disrupts normal cell functions, leading to defective processes during cell division and impaired development of the brain and pancreatic beta cells, suggesting a direct link between SMPD4 deficiency and the observed clinical symptoms.
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An adequate approach to sickness absence can reduce school dropout which is a major problem in Intermediate Vocational Education (IVE). This practice-based study explores the sickness absence reasons and factors influencing reporting the sickness, from a student's perspective. Semistructured interviews were held until saturation.

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Heart murmurs are caused by turbulent blood flow or by vibration of cardiac structures. Turbulent blood flow may originate from structural heart disease or from physiological phenomena. The aims of this study were to establish the cause of heart murmurs in apparently healthy adult cats and to determine whether a heart murmur is a reliable indicator of heart disease.

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Hypertonic colloid solutions reportedly exert protective effects on the microcirculation. The present study investigated the effects of a hypertonic saline hydroxyethyl starch (HES) solution on the oxygen extraction capabilities in an endotoxic shock model in the dog. Fourteen anesthetized and mechanically ventilated dogs received 2 mg/kg of Escherichia coli endotoxin before being randomly divided into two groups to receive a 4 mLkg infusion in 10 min of either hypertonic (7.

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We evaluated the effects of concentric simultaneous vision bifocal contact lenses on task performance, visual acuity, and stereopsis. Forty extensively screened presbyopes were fitted with CIBA Spectrum center-near bifocal contact lenses (BCL) and with distant contact lenses combined with reading spectacles (DCL) which served as the control. Thirty-two subjects completed the 8-week study.

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We evaluated the visual results and success rate with a center-near concentric simultaneous vision bifocal contact lens. Forty subjects (screened from 175 presbyopic applicants) entered the study and were fitted with the CIBA Spectrum bifocal lenses (BCL) and also with single vision distance contact lenses combined with reading glasses (DCL). Visual acuity and stereoacuity measurements were made at dispensing and after 8 weeks of regular bifocal contact lens wear.

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