J Pediatr Intensive Care
September 2016
The implementation of an electronic medical record (EMR) is a high-priority project in a majority of industrialized countries. The Healthcare Information and Management Systems Society (HIMSS) Analytics established an eight-stage EMR Adoption Model (EMRAM) to track progress against health care organizations across a country. In Canada, 36.
View Article and Find Full Text PDFA multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy-proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups.
View Article and Find Full Text PDFEur J Obstet Gynecol Reprod Biol
November 1989
The Ehlers-Danlos syndrome type IV is a heritable connective-tissue disorder characterized by thin translucent skin, pronounced bruising and scarring, and extreme tissue fragility. Obstetrical complications include premature rupture of membranes, rupture of blood vessels and gravid uterus, tearing of perineum, vagina, urethra and bladder, requesting specific prophylactic and therapeutic measurements. Hereditary transmission is usually autosomal dominant with variable expression.
View Article and Find Full Text PDFEarly diagnosis of Ehlers-Danlos and Marfan syndromes in children is illustrated by personal case histories. EDS type IV was suspected in a 3 years old child on the basis of minor clinical signs with positive familial history. Detection of a collagen type III defect in cultured skin fibroblasts confirmed the diagnosis.
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