A patient with ascending aortic dilatation, similar to phenotypes of connective tissue disorders.

We report on the clinical and molecular findings of a patient who presented alopecia, epicanthus, micrognathia, retrognathia, high arched palate, hypertelorism, Chiari type I malformation, mixed-type hearing loss but with normal heartbeat Q-T interval, malformed earlobes, down-slanted palpebral fissures, downturned corners of the mouth, syndactyly, atopic eczema, and seizures. The patient was a male adult, 23 years old, with short stature (153 cm) and low weight (50.5 kg), due to severe aortic insufficiency and dilatation of the ascending aorta. Conventional cytogenetic screening did not show any chromosomal gains or losses. Molecular genetic screening was conducted for gene mutations involved in various syndromes; the mutations found included [beta-fibrinogen -455 G>A wt/wt (wt/mut), PAI-1 4G/5G (4G/4G), HPA1 a/b (a/a), MTHFR C677T wt/wt (wt/mut), ACE I/D (I/I), and Apo E E3/E4]. Many clinical and molecular genetics findings overlapped with other conditions associated with arterial tortuosity and arterial aneurysms, including the Marfan, Ehler-Danlos, Shprintzen-Goldberg, and Loeys-Dietz syndromes. Although a diagnosis of Shprintzen-Goldberg syndrome was based on clinical findings and radiographic findings indicate other syndromes, aortic root dilatation seems to be a new symptom, similar to phenotypes of connective tissue disorders. The unique grouping of clinical manifestations in this patient and the molecular genetics findings lead us to suggest that this case could be an example of a previously unrecognized syndrome.

Can dantrolene protect spinal cord against ischemia/reperfusion injury? An experimental study.

BACKGROUND: The aim of this experimental study was to investigate the possible protective effect of dantrolene on neuronal injury induced by aortic ischemia/reperfusion (I/R). METHODS: Nineteen rabbits were divided into three groups: sham (group 1, n = 5, no I/R), control (group 2, n = 7, only I/R) and dantrolene (group 3, n = 7, dantrolene + I/R). Abdominal aortic occlusion between the renal arteries and iliac bifurcations was carried out for 30 min. The spinal cord functions of the subjects were assessed using the Tarlov Scale. Blood and cord tissue samples were taken for biochemical and histopathological evaluation. RESULTS: Tarlov scores in group 3 were significantly higher than in group 2 ( P < 0.05). In group 3, the MDA levels of the spinal cord decreased significantly compared to those of group 2 ( P < 0.05). In rabbits with I/R (group 2), the GSH levels of the spinal cord decreased significantly compared to those of group 1 ( P < 0.01), but dantrolene pretreatment significantly prevented a decrease in GSH levels. Histopathological examination showed that group 3 had less vascular proliferation, hemorrhage, edema and neuron loss than group 2. CONCLUSIONS: It was concluded that dantrolene applied after ischemia might help protect the spinal cord against ischemia/reperfusion injury.

Achieving efficient anti-adhesion in re-mediastinoscopy: an experimental study in rats.

OBJECTIVE: Re-mediastinoscopy can be a difficult procedure due to fibrosis in the mediastinum. We have investigated the effect of an anti-adhesive barrier agent "hylan B gel" on the formation of adhesions after dissection in the superior mediastinum in a rat model. METHODS: The study was conducted in 70 male Sprague-Dawley rats weighing 300 g. The strap muscles were divided by a midline cervical incision. The anterior and lateral aspects of the trachea were dissected to the level of the carina. Hylan B gel (Sepragel Sinus, Genzyme Company, Redgefield, NJ, USA) was used to create an anti-adhesive barrier. The rats who were subjected to surgery were sacrificed on postoperative days 14 and 28. All rats were previously divided into 5 groups: Sham group (n = 10); Group 1 (n = 15) surgery alone, sacrificed on day 14; Group 2 (n = 15) surgery and Sepragel, sacrificed on day 14; Group 3 (n = 15) surgery alone, sacrificed on day 28; Group 4 (n = 15) surgery and Sepragel, sacrificed on day 28. Histopathological analysis was performed to study the effect of the anti-adhesive agent. Scores were calculated based on collagen fibrosis, fibroblasts, granulation tissue, muscle alterations/inflammation, histiocytes, mononuclear giant cells, inflammation and vascular proliferation. RESULTS: Collagen fibrosis and fibroblast scores, which represent adhesions, were significantly higher in Groups 1, 2, 3, 4 than in the Sham group ( P < 0.01). The degree of adhesions on day 14 was found to be higher in Group 1 compared to Group 2 ( P < 0.01). Adhesions on day 28 were higher in Group 3 compared to Group 4 ( P < 0.01). There were no differences between groups with regard to foreign body reactions ( P > 0.05). CONCLUSION: Adhesions causing technical difficulty during re-mediastinoscopy can be reduced by the application of anti-adhesive agents during the primary procedure.