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Biomedical subjects

H Akoury

Publications and source records attributed to H Akoury.

3 recordsLinked to original sources

Anesthesia for cesarean section in a patient with Holt-Oram syndrome.

Holt-Oram syndrome is a rare genetic disorder affecting the heart and upper limbs (atriodigital dysplasia). The manifestations of the limb defects may vary in severity from subtle carpal bone defects and triphalangeal thumb to digit aplasia and upper extremity phocomelia. Cardiac abnormalities include atrial and/or ventricular septal defects, anomalies in pulmonary venous return and various dysrhythmias. We present the anesthetic management of a parturient with this syndrome who underwent elective cesarean section and tubal ligation, conducted under combined spinal-epidural anesthesia with a low dose of intrathecal bupivacaine. Our goal was to avoid an excessively high sympathetic block or excessive sympathetic stimulation accompanied by potential deleterious effects on cardiac rhythm. Cardiac monitoring was continued in the postoperative period for 6 h because of the possibility of dysrhythmia.

Abnormalities, Multiple↗

RhD status of a fetus at risk for haemolytic disease with a discrepant maternal DNA-based RhD genotype.

The cloning of the RHD gene has made it possible to determine the RhD status of fetuses at risk for haemolytic disease due to RhD iso-immunization using amniotic fluid or chorionic villi-derived DNA and the polymerase chain reaction. However, some Rh haplotypes are associated with false-positive or negative DNA-based results with the potential for an adverse outcome. We determined the RhD status of a fetus using amniotic fluid-derived DNA for an anti-D iso-immunized woman. Initially, we obtained the ethnic background and the complete RhD and RhCcEe phenotypes of both parents. The mother was RhD negative (Cde/cde) but her DNA was positive for exon 10 of the RHD gene. The fetus was positive for both exons 4 5 and exon 10. Southern analysis confirmed that the maternal DNA contained a portion of the RHD gene with a restriction pattern that was similar to RhD-positive individuals. This report illustrates that, in addition to fetal DNA genotyping, the same PCR assays, complete with RhD and RhCcEe phenotypes, and ethnic background of the parents should be obtained to alert the molecular diagnostic laboratory to the presence of rare Rh haplotypes that are associated with DNA genotyping errors.

Adult↗

Traumatic constipation.

In 4 patients, trauma to the lumbosacral area produced abnormalities similar to those seen after resection of the nervi erigentes. Mechanisms of the resulting constipation and fecal incontinence for liquid stools included a prolonged transit time through the entire colon, a low rectal pressure, spasticity of the anal canal, and abnormal anal reflexes. Previous trauma to the lower spine must be considered in the differential diagnosis of chronic constipation.

Adolescent↗