Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This ...

A polygamous Nigerian family with inherited skeletal cardiovascular anomalies (Holt-Oram syndrome) is described. Common to the affected individuals in this family were pectus excavatum and abnormalities of the thumbs. Atrial septal defect was proven by angiocardiography in one and clinically diagnosed in another member of the family. The mode of inheritance of the abnormalities in this family a...

Citation: Whomersley P, Van der Molen J, Holt D, Trundle C, Clark S and Fletcher D (2018) Modeling the Dispersal of Spiny Lobster (Palinurus elephas) Larvae: Implications for Future Fisheries Management and Conservation Measures. Front. Mar. Sci. 5:58. doi: 10.3389/fmars.2018.00058 Modeling the Dispersal of Spiny Lobster (Palinurus elephas) Larvae: Implications for Future Fisheries Management a...

Studies Study A. Holt RIG, Nicolucci A, Burns KK, et al., on behalf of the DAWN2 Study Group. Diabetes Attitudes, Wishes and Needs second study (DAWN2): cross-national comparisons on barriers and resources for optimal care—healthcare professional perspective. Diabet Med 2013;30:789–798. Study B. Nicolucci A, Burns KK, Holt RIG, et al., on behalf of the DAWN2 Study Group. Diabetes Attitudes, Wis...

OBJECTIVE To examine the long-term effects of an innovative curriculum on medical house officers' (HOs') knowledge, confidence, and attitudes regarding medical ethics. DESIGN Long term cohort study. The two-year curriculum, implemented by a single physician ethicist with assistance from other faculty, was fully integrated into the programme. It consisted of monthly sessions: ethics morning re...

The experience of vaginal tubectomy in 5214 cases over a period of 6 years is presented. Complications and failure rates following vaginal tubectomy were minimal. The main advantages over abdominal tubectomy were a relatively short operation (under local anaesthesia and analgesia) no hos. pitalization, minimal post operative complications and discomforts with no abdominal scars (JPMA 35 301, 19...

The T-box gene family encodes a large family of transcription factors with more than 20 members identified in humans so far, and homologues in many other organisms. A number of human disorders have been linked to mutations in T-box genes, confirming their medical importance. They include Holt- Oram syndrome/TBX5, Ulnar-Mammary syndrome/TBX3, and more recently DiGeorge syndrome/TBX1, ACTH defici...

IN THIS ISSUE of the American Journal of Physiology-Heart and Circulatory Physiology, Zhou et al. (32) describe impaired diastolic ventricular function measured by high-resolution (30 MHz) ultrasound and evidence for atrial septal defect (ASD) based on in vivo ultrasound and postmortem magnetic resonance imaging and anatomic examination in a Tbx5 mouse model for Holt-Oram syndrome. Tbx5 mice an...

IN THIS ISSUE of the American Journal of Physiology-Heart and Circulatory Physiology, Zhou et al. (32) describe impaired diastolic ventricular function measured by high-resolution (30 MHz) ultrasound and evidence for atrial septal defect (ASD) based on in vivo ultrasound and postmortem magnetic resonance imaging and anatomic examination in a Tbx5 mouse model for Holt-Oram syndrome. Tbx5 mice an...