ABSTRACT
Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four patients with varied developmental eye defects. In the 28 patients with A/M, we identified de novo mutations in three patients (OTX2, p.(Gln91His), RARB, p.Arg387Cys and GDF6, p.Ala249Glu) and inherited mutations in STRA6 in two patients. In patients with developmental eye defects, a female with cataracts and cardiomyopathy had a de novo COL4A1 mutation, p.(Gly773Arg), expanding the phenotype associated with COL4A1 to include cardiomyopathy. A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p.(Ala507Ser) and c.401-1G>A, and we describe eye defects associated with this gene for the first time. Exome sequencing was efficient for identifying mutations in pathogenic genes for which there is no clinical testing available and for identifying cases that expand phenotypic spectra, such as the PNPT1 and COL4A1-associated disorders described here.
Subject(s)
Anophthalmos/genetics , Eye Abnormalities/genetics , Microphthalmos/genetics , Mutation , Anophthalmos/metabolism , Collagen Type IV/genetics , DNA Mutational Analysis , Exome , Exoribonucleases/genetics , Female , Humans , Infant , Male , Membrane Proteins/genetics , Microphthalmos/metabolism , Otx Transcription Factors/genetics , Receptors, Retinoic Acid/geneticsABSTRACT
OBJECTIVE: To review the results of endovascular treatment of acute thoracic aortic diseases in a group of Chinese patients. DESIGN: Retrospective study. SETTING: A tertiary referral hospital with a cardiothoracic surgery service. PATIENTS: All 15 patients presenting with acute thoracic aortic diseases between September 2001 and October 2005 inclusive, of whom eight had traumatic rupture, four had complicated acute dissections, two had mycotic aneurysms, and one an aneurysm with an aortobronchial fistula. INTERVENTIONS: Thoracic aortic stent grafting. MAIN OUTCOME MEASURES: Immediate success, 6-month and 1-year survival rates. RESULTS: The median follow-up period was 20.6 months (range, 0-50.1 months). Stent grafts were deployed with immediate success in all patients. Two patients had ancillary bypass surgery for the supra-aortic branches. There were two in-hospital deaths. Four sustained access artery injury and needed graft repair. Computed tomography at 1 month showed complete thrombosis of the aneurysmal lumen or the thoracic aortic false lumen in 12 of 13 survivors. Computed tomography at 6 months showed complete thrombosis of the aneurysmal lumen or the false lumen in nine of 10 patients due for follow-up. Both 6-month and 1-year survival rates were 87%. CONCLUSIONS: Thoracic aortic stent grafting for acute thoracic aortic disease is feasible and has a high success rate, with good short-to-midterm results. However, the large size of the stent graft introducer set imposes a high risk of access artery injury, for which further improvements are necessary.
Subject(s)
Aorta, Thoracic , Aortic Diseases/therapy , Stents , Aortic Dissection/therapy , Aneurysm, Infected/therapy , Aorta, Thoracic/injuries , Aortic Diseases/diagnostic imaging , Aortic Diseases/mortality , Aortic Rupture/therapy , Bronchial Fistula/therapy , Fistula/therapy , Follow-Up Studies , Hong Kong , Humans , Male , Middle Aged , Retrospective Studies , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
OBJECTIVE: To compare the efficacy and safety of minimally invasive open parathyroidectomy with localised unilateral neck dissection to the conventional method of bilateral neck exploration and parathyroidectomy as a surgical treatment for primary hyperparathyroidism. PATIENTS AND METHODS: Eleven patients diagnosed with primary hyperparathyroidism at Queen Elizabeth Hospital from 1 January 2002 to 31 December 2002 were treated surgically with minimally invasive open parathyroidectomy. Their results were compared to a retrospective series of 15 patients treated by conventional bilateral neck exploration and parathyroidectomy between 1 January 2001 and 31 December 2001. Demographic data; cure, recurrence, and complication rates; operating time; and hospital stay were analysed. RESULTS: The cure rate was 100% in both groups. There was no recurrence in either group. Minor complication rates were 9% and 20% in the minimally invasive open parathyroidectomy and the control groups, respectively. Mean operating time was 63 minutes in the minimally invasive open parathyroidectomy group, and 92 minutes in the control group. The mean postoperative hospital stay for the minimally invasive open parathyroidectomy group was 1.36 days. Three of these procedures were performed as day surgery. The mean hospital stay for the control group was 2.93 days. The operating time and hospital stay were significantly shorter in the minimally invasive open parathyroidectomy group. CONCLUSION: Minimally invasive open parathyroidectomy is a viable alternative treatment method for primary hyperparathyroidism. It has comparable cure and recurrence rates to the conventional approach. It is safe, with a lower complication rate, and has the benefits of being a shorter procedure and allowing a shorter hospital stay. It can be performed as day surgery, further reducing hospital costs.
