Megan Thompson

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OBJECTIVE Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in this chromosomal abnormality. CASE REPORT The first fetus(More)
Nephronophthisis associated ciliopathies (NPHP-AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior-Loken syndrome. We report on a male fetus with prenatal ultrasound findings at 24 weeks of gestation of anhydramnios, large and echogenic kidneys and situs inversus totalis.(More)
The diastrophic dysplasia family of osteochondrodysplasias comprises a spectrum of skeletal diseases characterized by abnormal growth and remodelling of cartilage and bone. They are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene. Different defects in this gene product give rise to the variety of phenotypes based on the(More)
The influence of 3 and 7 days of preoperative intravenous nutrition (IVN) on the capacity for protein synthesis in liver and on concentrations of plasma proteins and amino acids were investigated in patients with gastrointestinal malignancy. Thirty patients with gastrointestinal neoplasms who had lost more than 5 kg of weight over 3 months were randomized(More)
BACKGROUND Enhanced recovery after surgery (ERAS) or 'fast track' surgery is heavily based on a multidisciplinary focused perioperative care model with all players being equally important for successful implementation. Several institutions run an ERAS course but few data are available on their effect on attitudes and perceptions to perioperative care(More)
OBJECTIVE The appearance of the vertebral artery (VA) waveform on a pulsed Doppler examination performed during standard carotid duplex ultrasonography (CDU) may suggest vertebrobasilar disease. We sought to determine the radiographic importance of high-resistive (HR) pulsed Doppler VA waveforms seen on CDU. METHODS The Noninvasive Vascular Laboratory(More)
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