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Congenital Defects
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1. Nyctalopin is essential for synaptic transmission in the cone dominated zebrafish retina.
Match Strength: 5.474

The first synapse in the vertebrate visual system is the photoreceptor synapse between rod and cone photoreceptors and the second-order bipolar cells. Although mutations in the nyctalopin gene (NYX) in humans lead to congenital stationary night blindness (CSNB1), affecting synaptic transmission between both types of photoreceptors and ON-bipolar cells, the function of nyctalopin in cone-dominant animal models has not been studied. Because the larval zebrafish retina is cone-dominant, we isolated the zebrafish nyx ortholog and raised a polyclonal antibody against the protein. Nyctalopin is ... Read More »
» Published in Eur J Neurosci. 2006 Sep;24(6):1664-74.

2. Immune-mediated etiology of acquired von Willebrand syndrome in systemic lupus erythematosus and in benign monoclonal gammopathy: therapeutic implications.
Match Strength: 5.084

The most common nonimmune etiology of acquired von Willebrand syndrome (AvWS) includes hypothyroidism, Wilms' tumor, thrombocythemia, or congenital heart defects, and the use of various drugs. AvWS type 1 in patients with hypothyroidism is due to decreased Willebrand factor (vWF) synthesis and is reversible by treatment with thyroxin. AvWS type 1 or 3 in children with Wilms' tumor disappears after successful chemotherapy or tumor resection but the mechanism of the vWF deficiency is unknown. The AvWS type 2 in patients with thrombocythemia of various myeloproliferative disorders is caused by ... Read More »
» Published in Semin Thromb Hemost. 2006 Sep;32(6):577-88.

3. Treatment evolution in high-risk congenital diaphragmatic hernia: ten years' experience with diaphragmatic agenesis.
Match Strength: 4.739

OBJECTIVE: The objective of this study was to evaluate the impact of newer therapies on the highest risk patients with congenital diaphragmatic hernia (CDH), those with agenesis of the diaphragm. SUMMARY BACKGROUND DATA: CDH remains a significant cause of neonatal mortality. Many novel therapeutic interventions have been used in these infants. Those children with large defects or agenesis of the diaphragm have the highest mortality and morbidity. METHODS: Twenty centers from 5 countries collected data prospectively on all liveborn infants with CDH over a 10-year period. The treatment and ... Read More »
» Published in Ann Surg. 2006 Oct;244(4):505-13.

4. Ethical issues in transnational "mail order" oocyte donation.
Match Strength: 4.398

The rising demand for donor oocytes in developed countries has led to what is referred to as transnational or international oocyte donation, or the outsourcing of oocyte donation to poorer countries. In a further twist, frozen sperm from a recipient's partner can also be mailed to a foreign clinic to fertilize donor oocytes, and the resulting embryos are mailed back, cryopreserved, for transfer to the recipient. Among the numerous ethical concerns raised by this practice of mail order oocyte donation, the most obvious are that underprivileged women from poorer countries are often exploited; ... Read More »
» Published in Int J Gynaecol Obstet. 2006 Dec;95(3):302-4. Epub 2006 Sep 25.

5. Towards understanding CRUMBS function in retinal dystrophies.
Match Strength: 3.875

Mutations in the Crumbs homologue 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (arRP) and autosomal Leber congenital amaurosis (arLCA). The crumbs (crb) gene was originally identified in Drosophila and encodes a large transmembrane protein required for maintenance of apico-basal cell polarity and adherens junction in embryonic epithelia. Human CRB1 and its two paralogues, CRB2 and CRB3, are highly conserved throughout the animal kingdom. Both in Drosophila and in vertebrates, the short intracellular domain of Crb/CRB organizes an evolutionary conserved protein scaffold. Several ... Read More »
» Published in Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R235-43.

6. Prostacyclin therapy increases right ventricular capillarisation in a model for flow-associated pulmonary hypertension.
Match Strength: 3.645

Pulmonary hypertension, and consequently right ventricular failure, complicates several congenital heart defects. Although intervention in the prostacyclin-thromboxane ratio is known to improve outcome, the underlying mechanism is not clear. Therefore, effects of acetyl salicylic acid and iloprost are studied in an animal model for flow-associated pulmonary hypertension. Male Wistar rats with flow-associated pulmonary hypertension, an aortocaval shunt in addition to monocrotaline induced pulmonary hypertension, were treated with low-dose aspirin (25 mg/kg/day) or iloprost (72 microg/kg/day). ... Read More »
» Published in Eur J Pharmacol. 2006 Nov 7;549(1-3):107-16. Epub 2006 Aug 17.

7. The advent of international 'mail-order' egg donation.
Match Strength: 3.608

The rising demand and increasing scarcity of donor oocytes in developed countries have led to some fertility clinics sourcing oocyte donors from abroad, particularly from poorer countries, in what is referred to as 'transnational' or 'international' oocyte donation. In a further new 'twist' to this scheme, frozen sperm of the recipient's male partner is exported abroad through courier mail and is used to fertilise donor oocytes in a foreign clinic to produce embryos, which are then cryopreserved and imported back by mail for transfer to the woman. There are numerous ethical concerns with ... Read More »
» Published in BJOG. 2006 Nov;113(11):1225-7. Epub 2006 Sep 15.

8. Successful use of surfactant to treat severe intrapulmonary hemorrhage after iatrogenic lung injury--A case report.
Match Strength: 3.540

OBJECTIVE: To describe the beneficial clinical effect of the use of surfactant in a patient with severe unilateral pulmonary hemorrhage after iatrogenic lung injury during corrective surgery for congenital heart defects. DESIGN: Case report. SETTING: Pediatric cardiac intensive care unit of a tertiary care hospital. PATIENT: An 11-wk-old boy. INTERVENTIONS: Intratracheal instillation of 4 mL (100 mg) of surfactant (Survanta) per kilogram of body weight to treat profound and refractory hypoxia and hypercapnia despite high-ventilation pressures, high respiratory rate, and the use of nitric oxide ... Read More »
» Published in Pediatr Crit Care Med. 2006 Nov;7(6):583-5.

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